Materiały źródłowe

• #1 Wilson disease – UF Health

  https://ufhealth.org/conditions-and-treatments/wilson-disease

  Wilson disease is a rare inherited disorder. If both parents carry a defective gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder. […] Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes. This causes tissue damage, tissue death, and scarring. The affected organs stop working normally. […] The gene that causes Wilson disease has been found. It is called ATP7B. DNA testing is available for this gene. Talk to your health care provider or a genetic counselor to learn if you should have gene testing performed.

• #2 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. […] The Wilson’s disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. […] Most people who have Wilson’s disease 60% are homozygous for ATP7B mutations (two abnormal copies), and 30% of them have only one abnormal copy. […] Although more than 500 mutations of ATP7B have been described, a very small number of those cause most cases of Wilson’s disease; which mutation an individual will have tends to be specific to the population they are part of. […] The condition is inherited in an autosomal recessive pattern. To inherit it, both of the parents of an individual must carry an affected gene.

• #3 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Wilson disease is a rare genetic condition where copper builds up in your body. […] Wilson disease is a rare genetic condition that occurs when your body accumulates too much copper, especially in the liver and brain. […] Wilson disease is passed on from parents to their children. It requires a copy of the abnormal gene from each parent. […] A mutation of the ATP7B gene causes Wilson disease. This gene is responsible for removing extra copper from your body. […] You can inherit the mutation of the ATP7B gene that causes Wilson disease. This means that the mutated gene passes from parent to child. To get Wilson disease, a person must inherit two abnormal genes, one from each parent (autosomal recessive).

• #4 Wilson’s disease – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/wilsons-disease/

  Wilsons disease only affects people who have two faulty genes, one inherited from each of their parents. […] Wilsons disease is caused by a faulty gene called ATP7B. […] A faulty gene (ATP7B) means you cant make the protein responsible for adding copper to bile. […] People only develop Wilsons disease if they have a faulty gene from both their mother and their father. […] Most people with Wilsons disease have no family history of the disease. […] Because it has a genetic cause it is not possible to prevent Wilsons disease.

• #5 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #6 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. […] The Wilson’s disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. […] Most people who have Wilson’s disease 60% are homozygous for ATP7B mutations (two abnormal copies), and 30% of them have only one abnormal copy. […] Although more than 500 mutations of ATP7B have been described, a very small number of those cause most cases of Wilson’s disease; which mutation an individual will have tends to be specific to the population they are part of. […] The condition is inherited in an autosomal recessive pattern. To inherit it, both of the parents of an individual must carry an affected gene.

• #7 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #8 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. […] The Wilson’s disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. […] Most people who have Wilson’s disease 60% are homozygous for ATP7B mutations (two abnormal copies), and 30% of them have only one abnormal copy. […] Although more than 500 mutations of ATP7B have been described, a very small number of those cause most cases of Wilson’s disease; which mutation an individual will have tends to be specific to the population they are part of. […] The condition is inherited in an autosomal recessive pattern. To inherit it, both of the parents of an individual must carry an affected gene.

• #9 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. […] The Wilson’s disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. […] Most people who have Wilson’s disease 60% are homozygous for ATP7B mutations (two abnormal copies), and 30% of them have only one abnormal copy. […] Although more than 500 mutations of ATP7B have been described, a very small number of those cause most cases of Wilson’s disease; which mutation an individual will have tends to be specific to the population they are part of. […] The condition is inherited in an autosomal recessive pattern. To inherit it, both of the parents of an individual must carry an affected gene.

• #10 Wilsons Disease | Children’s Liver Disease Foundation

  https://childliverdisease.org/liver-information/childhood-liver-conditions/wilsons-disease/

  Wilsons disease has a genetic basis which means it is caused by changes in genes which make up our DNA. The gene affected in Wilsons disease is called ATP7B. […] Wilsons disease is autosomal recessive. This means that, in order to develop Wilsons disease, a person must have two Wilsons disease genes, one inherited from each parent. If the parents of a child with Wilsons disease do not have the disease, they will be carriers for the gene but will not be unwell because of it. […] There are over 500 different genetic mutations which can cause Wilsons disease. People from different parts of the world have different mutations. […] The gene involved in Wilsons disease is one which instructs liver cells to make a protein which acts as a copper pump. This copper pump transports copper out of the liver cells into bile. When an individual has two faulty copies of the gene the copper pump isnt formed properly so cant pump the copper out into the bile. If two parents have a child with Wilsons disease, but they dont have the condition themselves, the chance of any children they have in the future of having Wilsons disease is 25% (one out of every four children).

• #11 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #12 Wilson’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Wilson%27s_disease

  Wilson’s disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. […] The Wilson’s disease gene (ATP7B) is on chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta. […] Most people who have Wilson’s disease 60% are homozygous for ATP7B mutations (two abnormal copies), and 30% of them have only one abnormal copy. […] Although more than 500 mutations of ATP7B have been described, a very small number of those cause most cases of Wilson’s disease; which mutation an individual will have tends to be specific to the population they are part of. […] The condition is inherited in an autosomal recessive pattern. To inherit it, both of the parents of an individual must carry an affected gene.

• #13 What is Wilson’s Disease? Symptoms, Diagnosis and Treatment | Çetin Karaca

  https://cetinkaraca.com/en/what-is-wilsons-disease-symptoms-diagnosis-and-treatment/

  Wilsons disease is an autosomal recessive (recessive) disease that occurs as a result of a defect in the ATP7B gene located on the 13th chromosome in the human genome and manifests itself with findings related to copper accumulation in the body as a result of the insufficiency of the mechanisms in the excretion of copper from the liver to the bile. […] Although over 60 mutations have been identified in this gene, the most common mutation, His1069Gly, is found in almost half of patients in North America and Europe. […] The reason for the rare appearance of the disease is that it is carried by genes with weak effect level. […] A family history of Wilsons disease is the only known risk factor for this disease.

• #14 ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping | npj Genomic Medicine

  https://www.nature.com/articles/s41525-020-0123-6

  Wilson disease is a recessive genetic disorder caused by pathogenic loss-of-function variants in the ATP7B gene. […] The variant NM_000053.3:c.1934TG (Met645Arg) has been reported as compound heterozygous, and is highly prevalent among Wilson disease patients of Spanish descent. […] Here, we used a minigene system and gene-edited HepG2 cells to demonstrate that c.1934TG causes ~70% skipping of exon 6. Exon 6 skipping results in frameshift and stop-gain, leading to loss of ATP7B function. […] The elucidation of the mechanistic effect for this variant resolves any doubt about its pathogenicity and enables the development of genetic medicines for restoring correct splicing. […] The variant NM_000053.3:c.1934TG (p.Met645Arg, hg19/b37 genomic coordinates chr13:52535985:AC, dbSNP rs121907998) has been reported in several Wilson disease patients, typically in compound heterozygosity with truncating (i.e., stop-gain, frameshift, large deletions) or missense variants and only once in homozygosity.

• #15 ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping | npj Genomic Medicine

  https://www.nature.com/articles/s41525-020-0123-6

  Wilson disease is a recessive genetic disorder caused by pathogenic loss-of-function variants in the ATP7B gene. […] The variant NM_000053.3:c.1934TG (Met645Arg) has been reported as compound heterozygous, and is highly prevalent among Wilson disease patients of Spanish descent. […] Here, we used a minigene system and gene-edited HepG2 cells to demonstrate that c.1934TG causes ~70% skipping of exon 6. Exon 6 skipping results in frameshift and stop-gain, leading to loss of ATP7B function. […] The elucidation of the mechanistic effect for this variant resolves any doubt about its pathogenicity and enables the development of genetic medicines for restoring correct splicing. […] The variant NM_000053.3:c.1934TG (p.Met645Arg, hg19/b37 genomic coordinates chr13:52535985:AC, dbSNP rs121907998) has been reported in several Wilson disease patients, typically in compound heterozygosity with truncating (i.e., stop-gain, frameshift, large deletions) or missense variants and only once in homozygosity.

• #16 Wilson Disease – Nutritional Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/nutritional-disorders/mineral-deficiency-and-toxicity/wilson-disease

  Wilson disease is a disorder of copper metabolism that affects men and women; about 1 person in 30,000 has the disorder. Affected people are homozygous for the mutant recessive gene, located on chromosome 13. […] The genetic defect in Wilson disease impairs copper transport. The impaired transport decreases copper secretion into the bile, thus causing the copper overload and resultant accumulation in the liver, which begins at birth. […] Wilson disease is a rare, autosomal recessive disorder in which copper accumulates in various organs.

• #17 Wilson Disease

  https://healthlibrary.uwmedicine.org/Library/DiseasesConditions/Adult/Liver/134,226

  Wilson disease is caused by an inherited change or abnormality (mutation) in the ATP7B gene. It’s an autosomal recessive disorder. This means that both parents must pass on a nonworking copy of the gene to the child. Parents may show no signs of the disease. […] Wilson disease is a rare genetic disorder that prevents your body from getting rid of extra copper in your system. […] Too much copper builds up in your liver. The copper collects in other organs as well as in your eyes and brain. […] Your organs become damaged. Over time, it can be life-threatening.

• #18 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Wilson disease is a rare genetic condition where copper builds up in your body. […] Wilson disease is a rare genetic condition that occurs when your body accumulates too much copper, especially in the liver and brain. […] Wilson disease is passed on from parents to their children. It requires a copy of the abnormal gene from each parent. […] A mutation of the ATP7B gene causes Wilson disease. This gene is responsible for removing extra copper from your body. […] You can inherit the mutation of the ATP7B gene that causes Wilson disease. This means that the mutated gene passes from parent to child. To get Wilson disease, a person must inherit two abnormal genes, one from each parent (autosomal recessive).

• #19 About Wilson Disease

  https://www.genome.gov/Genetic-Disorders/Wilson-Disease

  Wilson disease is a rare genetic condition that causes a person’s body to store too much of the mineral copper. […] Wilson disease is inherited in what doctors call an autosomal (not on the X chromosome) recessive pattern. In this pattern of inheritance, a person needs to inherit two altered (mutated) copies of a gene – one from each parent – to develop the disease. […] The parents of a person with Wilson disease each carry one mutated copy of the gene and one normal copy of the gene, so they do not show signs or symptoms of the disease.

• #20 Wilson’s Disease | Causes, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/w/wilsons-disease

  Wilson’s disease is a rare inherited disease caused by having too much copper in the body. […] Wilson’s disease is inherited. It only appears when a person receives the same flawed gene from both parents. […] If both parents carry a gene for Wilson’s disease, there is: A 25% chance their child will develop the disorder. […] If one person in a family has Wilson’s disease, a DNA test often can tell if other family members are affected, if they are carriers, or if they are not affected.

• #21 Wilson disease – UF Health

  https://ufhealth.org/conditions-and-treatments/wilson-disease

  Wilson disease is a rare inherited disorder. If both parents carry a defective gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder. […] Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes. This causes tissue damage, tissue death, and scarring. The affected organs stop working normally. […] The gene that causes Wilson disease has been found. It is called ATP7B. DNA testing is available for this gene. Talk to your health care provider or a genetic counselor to learn if you should have gene testing performed.

• #22 Wilson’s Disease: Symptoms, Causes, Treatment, and Outlook

  https://www.webmd.com/a-to-z-guides/what-to-know-wilsons-disease

  The leading cause of Wilson’s disease is a mutation or change in the ATP7B gene. This gene codes for the transportation of copper in the body. If it does not form correctly or is absent, you could have Wilson’s disease. […] Since Wilson’s is considered a genetic autosomal recessive disease, you must inherit the mutated gene from each parent to get the disease. If you inherit it from one parent, you wont have symptoms, but you may pass it on to your children. […] A genetic test could show if there’s a mutation in the gene that causes Wilson’s disease.

• #23 Wilson’s disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251

  Wilson’s disease is caused by a changed gene inherited from each parent. Inheriting a changed gene from just one parent rarely affects a person’s health. But that person has one changed gene and one typical gene. Two carriers of changed genes have a 25% chance of having a child with two typical genes, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who is affected by Wilson’s disease. […] Wilson’s disease is caused by a changed gene passed down from each parent. If you get only one affected gene, you won’t get the disease yourself, but you’ll be a carrier. This means you could pass the affected gene to your children.

• #24 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #25 Wilson’s Disease | MedlinePlus

  https://medlineplus.gov/wilsondisease.html

  Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. […] Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. […] Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. […] The most characteristic sign is a rusty brown ring around the cornea of the eye.

• #26 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #27 Wilson’s disease: diagnosis and management – The Pharmaceutical Journal

  https://pharmaceutical-journal.com/article/ld/wilsons-disease-diagnosis-and-management

  Wilson’s disease (WD) is a rare autosomal recessive genetic disorder characterised by the accumulation of copper in various body tissues, particularly the brain, liver and corneas of the eyes. […] WD is caused by a mutation in the ATP7B gene on chromosome 13. The ATP7B gene is responsible for controlling the transport of copper from intracellular proteins into secretory pathways for excretion into bile and synthesis of ceruloplasmin (a protein that binds copper in the bloodstream). […] As WD is an autosomal recessive disorder, an individual must inherit two copies of the mutated ATP7B gene, one from each parent, both of whom are usually carriers.

• #28 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #29 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #30 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #31 Wilson’s disease – USZ

  https://www.usz.ch/en/disease/wilsons-disease/

  If you suffer from Wilson’s disease, your liver cannot excrete excess copper from food via the bile. The trace element accumulates in the body, causing damage to your organs. […] Wilsons disease is a rare disease and is genetically determined. On average, 1 in 30,000 inhabitants suffers from the hereditary disease. […] It was not until 1993 that researchers were able to prove that the ATP7B gene (the so-called Wilson gene) causes the condition. […] However, it is not always the same genetic defect that triggers Wilsons disease; over 350 different mutations are now known for the Wilson gene. […] While the bile of healthy people excretes around two milligrams of copper every day, the amount excreted by people with Wilsons disease is only around 0.2 to 0.4 milligrams. […] Without treatment, Wilsons disease progresses continuously. The growing copper deposits cause more and more defects in the body until they finally become life-threatening after around four to eight years.

• #32 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #33 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #34 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #35 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #36 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #37 Wilson’s Disease: Causes, Symptoms and Treatment

  https://patient.info/digestive-health/abnormal-liver-function-tests-leaflet/wilsons-disease

  Wilson’s disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. […] In Wilson’s disease, a particular gene on chromosome 13 does not work. The gene is called ATP7B. This gene normally controls the way the liver cells get rid of excess copper. […] If this process does not work then the copper builds up in liver cells. When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits copper in other parts of the body, mainly the brain.

• #38 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #39 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #40 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #41 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #42 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #43 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #44 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #45 Wilson disease: Clinical manifestations, diagnosis, and natural history – UpToDate

  https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history

  Wilson disease (also referred to as hepatolenticular degeneration) is a genetic disorder of copper metabolism with an autosomal recessive pattern of inheritance that leads to impaired function of the intracellular copper transporter ATP7B. Reduced biliary excretion of copper results in its accumulation in the liver and other tissues (eg, brain, cornea). […] The variability in the age of onset of Wilson disease probably reflects differences in mutations and penetrance, extragenic factors, and environmental influences including diet. […] A diagnosis of Wilson disease is established if the hepatic copper concentration is >250 mcg/g dry weight (4 micromol/g dry weight). […] Biallelic, pathogenic (disease-causing) variants affecting both ATP7B alleles are required to develop Wilson disease.

• #46 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #47 Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

  https://www.mdpi.com/2227-9059/9/9/1100

  The clinical spectrum of WD is widely extensive, with hepatic, neurological, and psychiatric manifestations, showing incomplete penetrance and variable expressivity within the same family and, even between monozygotic sibs. […] Factors other than primary disease-causing mutation contribute to the clinical outcome such as genetic modifiers, epigenetics, and environmental aspects. […] That is why, if ATP7B screening fails to identify a disease-causing mutation, further exhaustive genetic testing using NGS tools should be considered.

• #48 Wilson Disease – Nutritional Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/nutritional-disorders/mineral-deficiency-and-toxicity/wilson-disease

  Wilson disease is a disorder of copper metabolism that affects men and women; about 1 person in 30,000 has the disorder. Affected people are homozygous for the mutant recessive gene, located on chromosome 13. […] The genetic defect in Wilson disease impairs copper transport. The impaired transport decreases copper secretion into the bile, thus causing the copper overload and resultant accumulation in the liver, which begins at birth. […] Wilson disease is a rare, autosomal recessive disorder in which copper accumulates in various organs.

• #49 Wilson Disease: Facts, Causes & Treatment

  https://liverfoundation.org/liver-diseases/rare-disease/wilsons-disease/

  Wilson Disease is an inherited condition that causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should. As the copper builds up in the liver, it begins to damage the organ. […] Wilson Disease is a rare inherited disorder that affects about one in 30,000 individuals of any race or ethnicity. Wilson Disease is an autosomal recessive trait, which means that the affected individual must receive two copies of an abnormal gene for Wilson Disease, one from each parent. […] If left untreated, Wilson Disease results in increasing damage to the liver and brain, and will be deadly.

• #50 Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

  https://www.mdpi.com/2227-9059/9/9/1100

  Stratified genetic analysis is recommended in order to achieve a reasonable diagnostic success rate with the aim to cover the whole ATP7B sequence and the different possible mutation types. […] If no diagnosis is achieved, the possibility of large deletions or insertions must be examined by MLPA (multiplex-ligation probe amplification), in addition to sequencing the promoter. […] The widely accepted prevalence of WD was estimated in 1984 by Scheinberg and Sternlieb: 1:30,000 (=3.3/100,000), before the responsible gene was discovered. […] Despite technological advances, only one mutation or no mutation is identified in a relevant proportion of patients (~1–27%). […] Thus, Leung et al. estimated a clinical prevalence of 3.3 and a genetic prevalence of 14.3 per 100,000, disparities in part explained by the contribution of several factors such as epigenetics, metabolism, incomplete penetrance and missed diagnoses.

• #51 Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

  https://www.mdpi.com/2227-9059/9/9/1100

  Stratified genetic analysis is recommended in order to achieve a reasonable diagnostic success rate with the aim to cover the whole ATP7B sequence and the different possible mutation types. […] If no diagnosis is achieved, the possibility of large deletions or insertions must be examined by MLPA (multiplex-ligation probe amplification), in addition to sequencing the promoter. […] The widely accepted prevalence of WD was estimated in 1984 by Scheinberg and Sternlieb: 1:30,000 (=3.3/100,000), before the responsible gene was discovered. […] Despite technological advances, only one mutation or no mutation is identified in a relevant proportion of patients (~1–27%). […] Thus, Leung et al. estimated a clinical prevalence of 3.3 and a genetic prevalence of 14.3 per 100,000, disparities in part explained by the contribution of several factors such as epigenetics, metabolism, incomplete penetrance and missed diagnoses.

• #52 Wilson’s Disease – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/wilsons-disease/

  Wilson’s Disease is a rare inherited metabolic disorder which causes high amounts of copper to build up in the body. […] If you have Wilson’s Disease, your body cannot get rid of the excess copper, so it builds up and becomes toxic. […] It is thought that 1 in every 100 people carry the gene which causes Wilson’s Disease. […] Wilson’s Disease can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance.

• #53 Pathology Pearls: Wilson Disease | AASLD

  https://www.aasld.org/liver-fellow-network/core-series/pathology-pearls/pathology-pearls-wilson-disease

  Wilson Disease is an autosomal recessively inherited disorder characterized by a mutation in ATPB7 that encodes an ATPase-dependent, P-type copper transporter localized to chromosome 13q-14.3. This ATPase transports copper into bile for excretion. Bile being the only route of copper excretion, decreased function or absence of ATPB7 results in copper accumulation in the cytoplasm of hepatocytes. […] The carrier frequency of Wilson is 1 in 100 with successive generations of families being affected despite the autosomal recessive pattern of inheritance. Heterozygotes are known to be biochemically affected and clinically unaffected in most cases. Three hundred and seventy nine out of 500 mutations in ATPB7 are thought to be pathological. […] Genetic confirmation of the disease is difficult due to large number of mutations hence a combination of histological and biochemical features help confirm the diagnosis.

• #54 Classification and differential diagnosis of Wilson’s disease

  https://atm.amegroups.org/article/view/24142/html

  The P-type ATPase 7B has substrate specificity for copper ions. […] Homozygous or compound heterozygous mutations lead to Wilsons disease. […] The disruption of its synthesis due to a lack of copper uptake (ATPase 7B defect) results in a severe decrease of the overall serum copper level. […] A distinctive pathological profile of the copper metabolism parameter can already be verified prior to the onset of hepatolenticular clinical cardinal symptoms based on the toxic effect of the copper. […] An extensive understanding of copper metabolism and known disorders, in addition to Wilsons disease, is significant, in particular for the interpretation of the paraclinical data.

• #55 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #56 Classification and differential diagnosis of Wilson’s disease

  https://atm.amegroups.org/article/view/24142/html

  The P-type ATPase 7B has substrate specificity for copper ions. […] Homozygous or compound heterozygous mutations lead to Wilsons disease. […] The disruption of its synthesis due to a lack of copper uptake (ATPase 7B defect) results in a severe decrease of the overall serum copper level. […] A distinctive pathological profile of the copper metabolism parameter can already be verified prior to the onset of hepatolenticular clinical cardinal symptoms based on the toxic effect of the copper. […] An extensive understanding of copper metabolism and known disorders, in addition to Wilsons disease, is significant, in particular for the interpretation of the paraclinical data.

• #57 Wilsons Disease | Children’s Liver Disease Foundation

  https://childliverdisease.org/liver-information/childhood-liver-conditions/wilsons-disease/

  Wilsons disease has a genetic basis which means it is caused by changes in genes which make up our DNA. The gene affected in Wilsons disease is called ATP7B. […] Wilsons disease is autosomal recessive. This means that, in order to develop Wilsons disease, a person must have two Wilsons disease genes, one inherited from each parent. If the parents of a child with Wilsons disease do not have the disease, they will be carriers for the gene but will not be unwell because of it. […] There are over 500 different genetic mutations which can cause Wilsons disease. People from different parts of the world have different mutations. […] The gene involved in Wilsons disease is one which instructs liver cells to make a protein which acts as a copper pump. This copper pump transports copper out of the liver cells into bile. When an individual has two faulty copies of the gene the copper pump isnt formed properly so cant pump the copper out into the bile. If two parents have a child with Wilsons disease, but they dont have the condition themselves, the chance of any children they have in the future of having Wilsons disease is 25% (one out of every four children).

• #58 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #59 Classification and differential diagnosis of Wilson’s disease

  https://atm.amegroups.org/article/view/24142/html

  The P-type ATPase 7B has substrate specificity for copper ions. […] Homozygous or compound heterozygous mutations lead to Wilsons disease. […] The disruption of its synthesis due to a lack of copper uptake (ATPase 7B defect) results in a severe decrease of the overall serum copper level. […] A distinctive pathological profile of the copper metabolism parameter can already be verified prior to the onset of hepatolenticular clinical cardinal symptoms based on the toxic effect of the copper. […] An extensive understanding of copper metabolism and known disorders, in addition to Wilsons disease, is significant, in particular for the interpretation of the paraclinical data.

• #60 WDSG-UK :: What you should know about Wilson’s disease

  https://www.wilsonsdisease.org.uk/Site/Pages/what_is_wilsons_disease

  Wilson’s disease is a rare genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson’s disease affects about one in thirty thousand people worldwide. […] The genetic defect causes excessive copper accumulation. […] Copper begins to accumulate immediately after birth and gradually builds up to toxic levels within the body. Excess copper attacks the liver and brain resulting in liver disease, psychiatric, or neurological symptoms or any combination of these. […] The first part of the body that copper affects is the liver. […] The excess copper also accumulates in the central nervous system.

• #61 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #62 Wilson disease – UF Health

  https://ufhealth.org/conditions-and-treatments/wilson-disease

  Wilson disease is a rare inherited disorder. If both parents carry a defective gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder. […] Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes. This causes tissue damage, tissue death, and scarring. The affected organs stop working normally. […] The gene that causes Wilson disease has been found. It is called ATP7B. DNA testing is available for this gene. Talk to your health care provider or a genetic counselor to learn if you should have gene testing performed.

• #63 Wilson Disease: Facts, Causes & Treatment

  https://liverfoundation.org/liver-diseases/rare-disease/wilsons-disease/

  Wilson Disease is an inherited condition that causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should. As the copper builds up in the liver, it begins to damage the organ. […] Wilson Disease is a rare inherited disorder that affects about one in 30,000 individuals of any race or ethnicity. Wilson Disease is an autosomal recessive trait, which means that the affected individual must receive two copies of an abnormal gene for Wilson Disease, one from each parent. […] If left untreated, Wilson Disease results in increasing damage to the liver and brain, and will be deadly.

• #64 Wilson’s Disease – Symptoms, Causes, Prevention, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Nu

  https://www.pacehospital.com/wilsons-disease-symptoms-causes-prevention-and-treatment

  The binding of ceruloplasmin to copper is overseen by ATP7B. In the case of patients suffering from Wilson’s Disease, due to the mutation of ATP7B, the gene remains dysfunctional. It causes copper accumulation in the liver. […] Increased copper level in the liver causes oxidative damage, resulting in various hepatic disorders and the release of unbounded copper. This unbounded copper precipitates particularly in the kidneys, brain, and eyes. […] The unbounded copper deposition in the brain is mainly concentrated around the basal ganglia, putamen, and globus pallidus (also called lenticular nucleus), damaging the neurocognitive processes and producing neuropsychiatric symptoms of the Wilson’s disease. […] Wilson’s disease is an autosomal recessive disorder that involves a single gene mutation.

• #65 Wilson disease (CNS manifestations) | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/wilson-disease-cns-manifestations-1?lang=us

  Wilson disease, also known as hepatolenticular degeneration, is a multisystem disease due to abnormal accumulation of copper. It is characterized by early onset liver cirrhosis with CNS findings most frequently affecting the basal ganglia and midbrain. […] Neuropsychiatric manifestations of Wilson disease are protean. Common clinical features include dysarthria, dystonia, tremor, parkinsonism, choreoathetosis, ataxia, and gait anomalies. […] Imaging features of Wilson disease can be variable, and depend on whether the disease is treated or untreated, and upon the degree of concurrent hepatic impairment.

• #66 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #67 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #68 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #69 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #70 Wilson’s Disease | MedlinePlus

  https://medlineplus.gov/wilsondisease.html

  Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. […] Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. […] Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. […] The most characteristic sign is a rusty brown ring around the cornea of the eye.

• #71 What is Wilson’s Disease? Symptoms, Diagnosis and Treatment | Çetin Karaca

  https://cetinkaraca.com/en/what-is-wilsons-disease-symptoms-diagnosis-and-treatment/

  Wilsons disease is an autosomal recessive (recessive) disease that occurs as a result of a defect in the ATP7B gene located on the 13th chromosome in the human genome and manifests itself with findings related to copper accumulation in the body as a result of the insufficiency of the mechanisms in the excretion of copper from the liver to the bile. […] Although over 60 mutations have been identified in this gene, the most common mutation, His1069Gly, is found in almost half of patients in North America and Europe. […] The reason for the rare appearance of the disease is that it is carried by genes with weak effect level. […] A family history of Wilsons disease is the only known risk factor for this disease.

• #72 Wilson Disease | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/neurosciences/movement-disorders/wilson-disease

  Wilson disease is a rare genetic disorder that causes excessive copper accumulation in the liver or brain. […] You are more likely to have the disease if you have a family history of the disorder. […] Wilson disease is a rare genetic disorder that prevents your body from getting rid of extra copper in your system. […] Too much copper builds up in your liver and collects in other organs, as well as in your eyes and brain. […] Your organs become damaged. Over time it can be life-threatening.

• #73 Wilson disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/wilson-disease

  Wilson disease is an inherited disorder in which there is too much copper in the body’s tissues. The excess copper damages the liver and nervous system. […] Wilson disease is a rare inherited disorder. If both parents carry a non-working (variant) gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder. […] Non-working copies of the gene called ATP7B causes Wilson disease. DNA testing is available for this gene. Talk to your health care provider or a genetic counselor to learn if you should have gene testing performed.

• #74 Wilson Disease – Gastroenterology Health Partners

  https://gastrohealthpartners.com/wilson-disease/

  Wilson disease is a rare inherited condition that causes copper to build up in your body. […] This is an inherited disease, meaning it is passed down in families genetically. It is passed down as an autosomal recessive trait. To develop the disease, you must have a copy of the mutated gene from both parents. […] You are at a higher risk of Wilson disease if you have a parent or sibling with the condition. […] If you know you are a carrier of the defective gene, you should be aware that you could pass it to your children as well.

• #75 Wilson Disease – Gastroenterology Health Partners

  https://gastrohealthpartners.com/wilson-disease/

  Wilson disease is a rare inherited condition that causes copper to build up in your body. […] This is an inherited disease, meaning it is passed down in families genetically. It is passed down as an autosomal recessive trait. To develop the disease, you must have a copy of the mutated gene from both parents. […] You are at a higher risk of Wilson disease if you have a parent or sibling with the condition. […] If you know you are a carrier of the defective gene, you should be aware that you could pass it to your children as well.

• #76 Wilson Disease – Gastroenterology Health Partners

  https://gastrohealthpartners.com/wilson-disease/

  Wilson disease is a rare inherited condition that causes copper to build up in your body. […] This is an inherited disease, meaning it is passed down in families genetically. It is passed down as an autosomal recessive trait. To develop the disease, you must have a copy of the mutated gene from both parents. […] You are at a higher risk of Wilson disease if you have a parent or sibling with the condition. […] If you know you are a carrier of the defective gene, you should be aware that you could pass it to your children as well.

• #77 Wilson’s Disease – Liver Foundation

  https://liver.org.au/your-liver/liver-diseases/wilsons-disease/

  Wilson’s disease is a genetic disease. It’s caused by problems with the ATP7B gene. To get the disease, you must receive 2 copies of the abnormal gene, one from each parent. […] If you have Wilson’s disease, you will only pass it to your children if your partner also has the abnormal gene. If both of you have the abnormal gene: the risk of your child having Wilson’s disease is 25% with each pregnancy; the risk to your child of being a carrier is 50% with each pregnancy; the change of receiving normal genes from both parents is 25% with each pregnancy.

• #78 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #79 Wilson’s Disease: Risk Factors, Causes, & Symptoms | CK Birla Hospital

  https://ckbirlahospitals.com/rbh/blog/shining-light-on-wilsons-disease

  Wilson’s disease, also known as hepatolenticular degeneration, is an inherited disorder caused by mutations in the ATP7B gene. This gene produces a protein that transports excess copper out of cells, primarily in the liver. […] One of the primary causes of Wilsons disease is genes that are passed onto children from parents. If the person is carrying one affecting, not only the person will be affected by the condition, but he/she will be a carrier. It means passing the affected gene to generations. Here are some reasons identified for Wilsons disease: […] Genetic mutations in the ATP7B gene […] Autosomal recessive inheritance pattern (both parents must carry a mutated gene for the child to develop the disease) […] Environmental factors, such as excessive copper intake or exposure to certain medications that interfere with copper metabolism.

• #80 Wilson’s Disease: Risk Factors, Causes, & Symptoms | CK Birla Hospital

  https://ckbirlahospitals.com/rbh/blog/shining-light-on-wilsons-disease

  Wilson’s disease, also known as hepatolenticular degeneration, is an inherited disorder caused by mutations in the ATP7B gene. This gene produces a protein that transports excess copper out of cells, primarily in the liver. […] One of the primary causes of Wilsons disease is genes that are passed onto children from parents. If the person is carrying one affecting, not only the person will be affected by the condition, but he/she will be a carrier. It means passing the affected gene to generations. Here are some reasons identified for Wilsons disease: […] Genetic mutations in the ATP7B gene […] Autosomal recessive inheritance pattern (both parents must carry a mutated gene for the child to develop the disease) […] Environmental factors, such as excessive copper intake or exposure to certain medications that interfere with copper metabolism.

• #81 Wilson’s Disease – Causes

  https://www.medindia.net/health/conditions/wilsons-disease-causes.htm

  Genetic mutation causes Wilson’s disease and is passed from one generation to the next. But, to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene you’re considered a carrier, but can pass the gene to your children, though you may be healthy. This kind of inheritance is called autosomal recessive pattern of inheritance. […] The mutation that is the cause of Wilson’s disease occurs is in a gene called ATP7B which is present on Chromosome 13. When a mutation occurs on this gene, it leads to problems with a protein that’s responsible for moving excess copper out of your liver. […] In people with Wilson’s disease, the extra copper doesn’t leave your body but builds up in the liver, where it can cause serious damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys. […] Excess copper absorption is also responsible for Indian childhood cirrhosis. It appears to be caused by ingesting milk that has been stored or boiled in corroded copper or brass vessels. These utensils are commonly used in Indian households.

• #82 Wilson’s disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/diagnosis-treatment/drc-20353256

  Diagnosing Wilson’s disease can be hard because its symptoms often are like other liver diseases, such as hepatitis. […] A blood test can pinpoint the genetic changes that cause Wilson’s disease. […] If you have the changed gene that causes Wilson’s disease, doctors also can screen any siblings. […] Schilsky ML. Wilson disease: Epidemiology and pathogenesis. […] Schilsky ML. Wilson disease: Clinical manifestations, diagnosis and natural history.

• #83 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  Advanced age and different clinical presentations of subjects with identical ATP7B mutations like in Ala paper, raises the question of the degree of penetrance for these and other ATP7B mutations (27). Environmental and extragenic factors are pivotal determinants of disease phenotype. So WD must be considered at all ages in patients with hepatic disease, neurological disease, or psychiatric symptoms. […] To improve our diagnostic performance, we need to understand that WD can be a multisystemic disease right from the beginning, not only limited to liver or brain damage. As with the liver and brain, copper accumulates in different organs and may impair their function (76). Thus, other early extra-hepatic features include renal manifestations, osteo-articular disorders and endocrine disturbances. […] The variability in clinical and laboratory findings may be due to the multiple mutations of the WD gene associated with different degree of functional impairment of ATP7B.

• #84 Wilson (Wilson’s) Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease

  Wilson disease is a genetic disorder that causes excessive amounts of copper to accumulate in the body, affecting the liver and brain. […] Instead of the body eliminating the excess copper it absorbs from food, for people with Wilson disease, the copper accumulates, causing tissue damage. […] The diagnosis of Wilson disease begins with performing a comprehensive examination and collecting a thorough history including a family history. […] A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). […] A urine test to measure the copper excreted in the urine is typically ordered. […] A liver biopsy tests for the amounts of copper in the liver and the degree of liver damage. […] The goal of treatment is to first remove the excess copper and then achieve a more typical level of copper in the body long-term. […] Chelating drugs help remove excess copper in the body, sending it out through the urine. […] Another medication, zinc acetate, helps to maintain a healthy level of copper. […] Genetic testing is a choice, not a requirement.

• #85 Wilson Disease – Seattle Children’s

  https://www.seattlechildrens.org/conditions/wilson-disease/

  Wilson disease is a rare genetic condition that causes too much copper to collect in the body. […] It is also important to have your child checked if a family member has Wilson disease or carries the gene change (variant) that causes it. […] To diagnose Wilson disease, your doctor will do 1 or more of the following: […] Test your childs blood or spit (saliva) for gene changes that cause Wilson disease. […] We do research to learn more about the causes of Wilson disease and better ways to treat it.

• #86 Wilson (Wilson’s) Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease

  Wilson disease is a genetic disorder that causes excessive amounts of copper to accumulate in the body, affecting the liver and brain. […] Instead of the body eliminating the excess copper it absorbs from food, for people with Wilson disease, the copper accumulates, causing tissue damage. […] The diagnosis of Wilson disease begins with performing a comprehensive examination and collecting a thorough history including a family history. […] A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). […] A urine test to measure the copper excreted in the urine is typically ordered. […] A liver biopsy tests for the amounts of copper in the liver and the degree of liver damage. […] The goal of treatment is to first remove the excess copper and then achieve a more typical level of copper in the body long-term. […] Chelating drugs help remove excess copper in the body, sending it out through the urine. […] Another medication, zinc acetate, helps to maintain a healthy level of copper. […] Genetic testing is a choice, not a requirement.

• #87 Wilson (Wilson’s) Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease

  Wilson disease is a genetic disorder that causes excessive amounts of copper to accumulate in the body, affecting the liver and brain. […] Instead of the body eliminating the excess copper it absorbs from food, for people with Wilson disease, the copper accumulates, causing tissue damage. […] The diagnosis of Wilson disease begins with performing a comprehensive examination and collecting a thorough history including a family history. […] A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). […] A urine test to measure the copper excreted in the urine is typically ordered. […] A liver biopsy tests for the amounts of copper in the liver and the degree of liver damage. […] The goal of treatment is to first remove the excess copper and then achieve a more typical level of copper in the body long-term. […] Chelating drugs help remove excess copper in the body, sending it out through the urine. […] Another medication, zinc acetate, helps to maintain a healthy level of copper. […] Genetic testing is a choice, not a requirement.

• #88 Wilson (Wilson’s) Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease

  Wilson disease is a genetic disorder that causes excessive amounts of copper to accumulate in the body, affecting the liver and brain. […] Instead of the body eliminating the excess copper it absorbs from food, for people with Wilson disease, the copper accumulates, causing tissue damage. […] The diagnosis of Wilson disease begins with performing a comprehensive examination and collecting a thorough history including a family history. […] A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). […] A urine test to measure the copper excreted in the urine is typically ordered. […] A liver biopsy tests for the amounts of copper in the liver and the degree of liver damage. […] The goal of treatment is to first remove the excess copper and then achieve a more typical level of copper in the body long-term. […] Chelating drugs help remove excess copper in the body, sending it out through the urine. […] Another medication, zinc acetate, helps to maintain a healthy level of copper. […] Genetic testing is a choice, not a requirement.

• #89 Wilson disease: Clinical manifestations, diagnosis, and natural history – UpToDate

  https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history

  Wilson disease (also referred to as hepatolenticular degeneration) is a genetic disorder of copper metabolism with an autosomal recessive pattern of inheritance that leads to impaired function of the intracellular copper transporter ATP7B. Reduced biliary excretion of copper results in its accumulation in the liver and other tissues (eg, brain, cornea). […] The variability in the age of onset of Wilson disease probably reflects differences in mutations and penetrance, extragenic factors, and environmental influences including diet. […] A diagnosis of Wilson disease is established if the hepatic copper concentration is >250 mcg/g dry weight (4 micromol/g dry weight). […] Biallelic, pathogenic (disease-causing) variants affecting both ATP7B alleles are required to develop Wilson disease.

• #90 Wilson’s disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/diagnosis-treatment/drc-20353256

  Diagnosing Wilson’s disease can be hard because its symptoms often are like other liver diseases, such as hepatitis. […] A blood test can pinpoint the genetic changes that cause Wilson’s disease. […] If you have the changed gene that causes Wilson’s disease, doctors also can screen any siblings. […] Schilsky ML. Wilson disease: Epidemiology and pathogenesis. […] Schilsky ML. Wilson disease: Clinical manifestations, diagnosis and natural history.

• #91 Wilson’s disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/diagnosis-treatment/drc-20353256

  Diagnosing Wilson’s disease can be hard because its symptoms often are like other liver diseases, such as hepatitis. […] A blood test can pinpoint the genetic changes that cause Wilson’s disease. […] If you have the changed gene that causes Wilson’s disease, doctors also can screen any siblings. […] Schilsky ML. Wilson disease: Epidemiology and pathogenesis. […] Schilsky ML. Wilson disease: Clinical manifestations, diagnosis and natural history.

• #92 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson (1,2) the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The most important challenge is to recognise atypical or rare symptoms of WD that will lead diagnosis. […] The second challenge is to confirm the diagnosis faster, not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. […] A large variability in the age of onset and in the clinical presentation of WD exists and reflect our limited knowledge on the natural history of WD.

• #93 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson (1,2) the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The most important challenge is to recognise atypical or rare symptoms of WD that will lead diagnosis. […] The second challenge is to confirm the diagnosis faster, not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. […] A large variability in the age of onset and in the clinical presentation of WD exists and reflect our limited knowledge on the natural history of WD.

• #94 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson (1,2) the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The most important challenge is to recognise atypical or rare symptoms of WD that will lead diagnosis. […] The second challenge is to confirm the diagnosis faster, not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. […] A large variability in the age of onset and in the clinical presentation of WD exists and reflect our limited knowledge on the natural history of WD.

• #95 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson (1,2) the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The most important challenge is to recognise atypical or rare symptoms of WD that will lead diagnosis. […] The second challenge is to confirm the diagnosis faster, not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. […] A large variability in the age of onset and in the clinical presentation of WD exists and reflect our limited knowledge on the natural history of WD.

• #96 Challenges in the diagnosis of Wilson disease

  https://atm.amegroups.org/article/view/24633/html

  More than one century after the first description of Wilson disease (WD) by Sir K. Wilson (1,2) the understanding and management of the disease have dramatically improved but challenges in diagnosing this copper overload disorder remain as it is extremely important for physicians and health professionals at any care level to recognise and diagnose this treatable disease at an early stage. […] The most important challenge is to recognise atypical or rare symptoms of WD that will lead diagnosis. […] The second challenge is to confirm the diagnosis faster, not to delay the initiation of treatment, and expand family screening as the genetic prevalence is higher than previously expected. […] A large variability in the age of onset and in the clinical presentation of WD exists and reflect our limited knowledge on the natural history of WD.

• #97 Pathology Pearls: Wilson Disease | AASLD

  https://www.aasld.org/liver-fellow-network/core-series/pathology-pearls/pathology-pearls-wilson-disease

  Wilson Disease is an autosomal recessively inherited disorder characterized by a mutation in ATPB7 that encodes an ATPase-dependent, P-type copper transporter localized to chromosome 13q-14.3. This ATPase transports copper into bile for excretion. Bile being the only route of copper excretion, decreased function or absence of ATPB7 results in copper accumulation in the cytoplasm of hepatocytes. […] The carrier frequency of Wilson is 1 in 100 with successive generations of families being affected despite the autosomal recessive pattern of inheritance. Heterozygotes are known to be biochemically affected and clinically unaffected in most cases. Three hundred and seventy nine out of 500 mutations in ATPB7 are thought to be pathological. […] Genetic confirmation of the disease is difficult due to large number of mutations hence a combination of histological and biochemical features help confirm the diagnosis.

• #98 Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

  https://www.mdpi.com/2227-9059/9/9/1100

  Stratified genetic analysis is recommended in order to achieve a reasonable diagnostic success rate with the aim to cover the whole ATP7B sequence and the different possible mutation types. […] If no diagnosis is achieved, the possibility of large deletions or insertions must be examined by MLPA (multiplex-ligation probe amplification), in addition to sequencing the promoter. […] The widely accepted prevalence of WD was estimated in 1984 by Scheinberg and Sternlieb: 1:30,000 (=3.3/100,000), before the responsible gene was discovered. […] Despite technological advances, only one mutation or no mutation is identified in a relevant proportion of patients (~1–27%). […] Thus, Leung et al. estimated a clinical prevalence of 3.3 and a genetic prevalence of 14.3 per 100,000, disparities in part explained by the contribution of several factors such as epigenetics, metabolism, incomplete penetrance and missed diagnoses.

• #99 Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

  https://www.mdpi.com/2227-9059/9/9/1100

  Stratified genetic analysis is recommended in order to achieve a reasonable diagnostic success rate with the aim to cover the whole ATP7B sequence and the different possible mutation types. […] If no diagnosis is achieved, the possibility of large deletions or insertions must be examined by MLPA (multiplex-ligation probe amplification), in addition to sequencing the promoter. […] The widely accepted prevalence of WD was estimated in 1984 by Scheinberg and Sternlieb: 1:30,000 (=3.3/100,000), before the responsible gene was discovered. […] Despite technological advances, only one mutation or no mutation is identified in a relevant proportion of patients (~1–27%). […] Thus, Leung et al. estimated a clinical prevalence of 3.3 and a genetic prevalence of 14.3 per 100,000, disparities in part explained by the contribution of several factors such as epigenetics, metabolism, incomplete penetrance and missed diagnoses.

• #100 Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

  https://www.mdpi.com/2227-9059/9/9/1100

  Stratified genetic analysis is recommended in order to achieve a reasonable diagnostic success rate with the aim to cover the whole ATP7B sequence and the different possible mutation types. […] If no diagnosis is achieved, the possibility of large deletions or insertions must be examined by MLPA (multiplex-ligation probe amplification), in addition to sequencing the promoter. […] The widely accepted prevalence of WD was estimated in 1984 by Scheinberg and Sternlieb: 1:30,000 (=3.3/100,000), before the responsible gene was discovered. […] Despite technological advances, only one mutation or no mutation is identified in a relevant proportion of patients (~1–27%). […] Thus, Leung et al. estimated a clinical prevalence of 3.3 and a genetic prevalence of 14.3 per 100,000, disparities in part explained by the contribution of several factors such as epigenetics, metabolism, incomplete penetrance and missed diagnoses.

• #101 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. […] Wilson’s disease should be treated as early as possible and for the rest of the patient’s life. […] The aim of therapy is to achieve homeostasis (maintenance of the correct concentration) of copper. […] The current first-line treatment options are chelators (substances that bind copper, and allow it to be excreted from the body), are D-penicillamine and trientine salts. […] If the therapy does not work, a liver transplant can be lifesaving.

• #102 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. […] Wilson’s disease should be treated as early as possible and for the rest of the patient’s life. […] The aim of therapy is to achieve homeostasis (maintenance of the correct concentration) of copper. […] The current first-line treatment options are chelators (substances that bind copper, and allow it to be excreted from the body), are D-penicillamine and trientine salts. […] If the therapy does not work, a liver transplant can be lifesaving.

• #103 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. […] Wilson’s disease should be treated as early as possible and for the rest of the patient’s life. […] The aim of therapy is to achieve homeostasis (maintenance of the correct concentration) of copper. […] The current first-line treatment options are chelators (substances that bind copper, and allow it to be excreted from the body), are D-penicillamine and trientine salts. […] If the therapy does not work, a liver transplant can be lifesaving.

• #104 Wilson Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/wilson-disease/

  Wilson disease is passed down from parents to their children through genes. Specifically, its caused by a mutation in a gene called ATP7B, which is involved in managing copper levels in the body. A person will have the disease if they inherit a copy of this faulty gene from each of their parents. […] Wilson disease is a genetic disorder that results from mutationsspecific changesin a gene known as ATP7B. It sits on chromosome 13, which houses the blueprint for a protein transporter that helps remove excess copper from your body. This transporter is predominantly found in the liver and brain. […] Wilson disease is primarily treated using medication that helps remove excess copper from the body through a process called chelation therapy. The preferred medicines for this treatment are penicillamine and trientine, with trientine often being preferred due to fewer side effects. Oral zinc supplements can also be used to reduce copper absorption in the body.

• #105 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. […] Wilson’s disease should be treated as early as possible and for the rest of the patient’s life. […] The aim of therapy is to achieve homeostasis (maintenance of the correct concentration) of copper. […] The current first-line treatment options are chelators (substances that bind copper, and allow it to be excreted from the body), are D-penicillamine and trientine salts. […] If the therapy does not work, a liver transplant can be lifesaving.

• #106 Wilson Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/wilson-disease/

  Wilson disease is passed down from parents to their children through genes. Specifically, its caused by a mutation in a gene called ATP7B, which is involved in managing copper levels in the body. A person will have the disease if they inherit a copy of this faulty gene from each of their parents. […] Wilson disease is a genetic disorder that results from mutationsspecific changesin a gene known as ATP7B. It sits on chromosome 13, which houses the blueprint for a protein transporter that helps remove excess copper from your body. This transporter is predominantly found in the liver and brain. […] Wilson disease is primarily treated using medication that helps remove excess copper from the body through a process called chelation therapy. The preferred medicines for this treatment are penicillamine and trientine, with trientine often being preferred due to fewer side effects. Oral zinc supplements can also be used to reduce copper absorption in the body.

• #107 Wilson (Wilson’s) Disease | University of Michigan Health

  https://www.uofmhealth.org/conditions-treatments/digestive-and-liver-health/wilson-wilsons-disease

  Wilson disease is a genetic disorder that causes excessive amounts of copper to accumulate in the body, affecting the liver and brain. […] Instead of the body eliminating the excess copper it absorbs from food, for people with Wilson disease, the copper accumulates, causing tissue damage. […] The diagnosis of Wilson disease begins with performing a comprehensive examination and collecting a thorough history including a family history. […] A blood test will check liver function and detect copper and ceruloplasmin (a protein involved in copper binding). […] A urine test to measure the copper excreted in the urine is typically ordered. […] A liver biopsy tests for the amounts of copper in the liver and the degree of liver damage. […] The goal of treatment is to first remove the excess copper and then achieve a more typical level of copper in the body long-term. […] Chelating drugs help remove excess copper in the body, sending it out through the urine. […] Another medication, zinc acetate, helps to maintain a healthy level of copper. […] Genetic testing is a choice, not a requirement.

• #108 Wilson Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/wilson-disease/

  Wilson disease is passed down from parents to their children through genes. Specifically, its caused by a mutation in a gene called ATP7B, which is involved in managing copper levels in the body. A person will have the disease if they inherit a copy of this faulty gene from each of their parents. […] Wilson disease is a genetic disorder that results from mutationsspecific changesin a gene known as ATP7B. It sits on chromosome 13, which houses the blueprint for a protein transporter that helps remove excess copper from your body. This transporter is predominantly found in the liver and brain. […] Wilson disease is primarily treated using medication that helps remove excess copper from the body through a process called chelation therapy. The preferred medicines for this treatment are penicillamine and trientine, with trientine often being preferred due to fewer side effects. Oral zinc supplements can also be used to reduce copper absorption in the body.

• #109 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. […] Wilson’s disease should be treated as early as possible and for the rest of the patient’s life. […] The aim of therapy is to achieve homeostasis (maintenance of the correct concentration) of copper. […] The current first-line treatment options are chelators (substances that bind copper, and allow it to be excreted from the body), are D-penicillamine and trientine salts. […] If the therapy does not work, a liver transplant can be lifesaving.

• #110 Wilson Disease – Disorders of Nutrition – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/disorders-of-nutrition/minerals/wilson-disease

  In Wilson disease, a rare hereditary disorder, the liver does not excrete excess copper into the bile as it normally does, resulting in accumulation of copper in the liver and liver damage. […] Because the liver does not excrete excess copper in people with Wilson disease, copper accumulates in the liver and damages it, causing cirrhosis and liver failure. […] Wilson disease affects about 1 person in 30,000. […] Doctors suspect Wilson disease based on symptoms (such as hepatitis, tremors, and personality changes) that have no obvious other cause and/or on the presence of Wilson disease in relatives. […] Without lifelong treatment, Wilson disease is fatal, usually by age 30. […] Liver transplantation can cure the disease and may be lifesaving for people who have Wilson disease and severe liver failure or severe liver problems that do not respond to drug treatment.

• #111 Wilson Disease – Disorders of Nutrition – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/disorders-of-nutrition/minerals/wilson-disease

  In Wilson disease, a rare hereditary disorder, the liver does not excrete excess copper into the bile as it normally does, resulting in accumulation of copper in the liver and liver damage. […] Because the liver does not excrete excess copper in people with Wilson disease, copper accumulates in the liver and damages it, causing cirrhosis and liver failure. […] Wilson disease affects about 1 person in 30,000. […] Doctors suspect Wilson disease based on symptoms (such as hepatitis, tremors, and personality changes) that have no obvious other cause and/or on the presence of Wilson disease in relatives. […] Without lifelong treatment, Wilson disease is fatal, usually by age 30. […] Liver transplantation can cure the disease and may be lifesaving for people who have Wilson disease and severe liver failure or severe liver problems that do not respond to drug treatment.

• #112 Wilson’s disease. Research. Cima Universidad de Navarra.

  https://cima.cun.es/en/diseases/rare-diseases/wilson-disease-research

  Wilson’s disease is an inherited disorder with an incidence of 1 case per 30,000 inhabitants. It is caused by mutation of the ATP7B gene, responsible for copper metabolism. Its mutation causes this metal to accumulate in the liver and then, through the bloodstream, it can reach other tissues, damaging the brain, kidneys and eyes. […] Cima initiated a line of research on this disease in 2014 that resulted in the design and innovation by gene therapy of a viral vector, VTX-801, capable of correcting the specific cause of Wilson’s disease (copper accumulation) and reversing the symptoms and pathological alterations associated with this pathology. […] Cima is committed to continuing research into the molecular mechanisms associated with Wilson’s disease.

• #113 Wilson’s disease. Research. Cima Universidad de Navarra.

  https://cima.cun.es/en/diseases/rare-diseases/wilson-disease-research

  Wilson’s disease is an inherited disorder with an incidence of 1 case per 30,000 inhabitants. It is caused by mutation of the ATP7B gene, responsible for copper metabolism. Its mutation causes this metal to accumulate in the liver and then, through the bloodstream, it can reach other tissues, damaging the brain, kidneys and eyes. […] Cima initiated a line of research on this disease in 2014 that resulted in the design and innovation by gene therapy of a viral vector, VTX-801, capable of correcting the specific cause of Wilson’s disease (copper accumulation) and reversing the symptoms and pathological alterations associated with this pathology. […] Cima is committed to continuing research into the molecular mechanisms associated with Wilson’s disease.

• #114 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #115 Wilson disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/wilson-disease/

  Wilson disease is caused by variants (also known as mutations) in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Variants in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. […] Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have variants in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.

• #116 Wilson Disease: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/5957-wilson-disease

  Wilson disease is a rare genetic condition where copper builds up in your body. […] Wilson disease is a rare genetic condition that occurs when your body accumulates too much copper, especially in the liver and brain. […] Wilson disease is passed on from parents to their children. It requires a copy of the abnormal gene from each parent. […] A mutation of the ATP7B gene causes Wilson disease. This gene is responsible for removing extra copper from your body. […] You can inherit the mutation of the ATP7B gene that causes Wilson disease. This means that the mutated gene passes from parent to child. To get Wilson disease, a person must inherit two abnormal genes, one from each parent (autosomal recessive).

• #117 Wilson’s disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353251

  Wilson’s disease is caused by a changed gene inherited from each parent. Inheriting a changed gene from just one parent rarely affects a person’s health. But that person has one changed gene and one typical gene. Two carriers of changed genes have a 25% chance of having a child with two typical genes, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who is affected by Wilson’s disease. […] Wilson’s disease is caused by a changed gene passed down from each parent. If you get only one affected gene, you won’t get the disease yourself, but you’ll be a carrier. This means you could pass the affected gene to your children.

• #118 Wilson Disease: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/183456-overview

  Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues. […] The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. […] In Wilson disease, the processes of incorporation of copper into ceruloplasmin and excretion of excess copper into bile are impaired. […] The transport of copper by the copper-transporting P-type ATPase is defective in Wilson disease secondary to one of several mutations in the ATP7B gene. […] Many of the gene defects for ATP7B are small deletions, insertions, or missense mutations. […] The excess copper resulting from Wilson disease promotes free radical formation that results in oxidation of lipids and proteins. […] Initially, the excess copper accumulates in the liver, leading to damage to hepatocytes. Eventually, as liver copper levels increase, it increases in the circulation and is deposited in other organs.

• #119 Wilson disease (CNS manifestations) | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/wilson-disease-cns-manifestations-1?lang=us

  Wilson disease, also known as hepatolenticular degeneration, is a multisystem disease due to abnormal accumulation of copper. It is characterized by early onset liver cirrhosis with CNS findings most frequently affecting the basal ganglia and midbrain. […] Neuropsychiatric manifestations of Wilson disease are protean. Common clinical features include dysarthria, dystonia, tremor, parkinsonism, choreoathetosis, ataxia, and gait anomalies. […] Imaging features of Wilson disease can be variable, and depend on whether the disease is treated or untreated, and upon the degree of concurrent hepatic impairment.

• #120

  https://continentalhospitals.com/diseases/wilson-disease/

  Wilson’s Disease is a rare genetic disorder that affects the body’s ability to metabolize copper. […] It is caused by a mutation in the ATP7B gene, which is responsible for transporting excess copper out of the liver and into bile for excretion. […] The exact causes of Wilson’s Disease are still not fully understood. However, it is known to be an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to inherit the disease. […] Early detection and treatment are crucial in managing Wilson’s Disease effectively.

• #121 Wilson’s disease (excess build-up of copper) – Swiss HePa

  https://www.swisshepa.org/en/liver-diseases/wilsons-disease-excess-build-up-of-copper/

  Wilson’s disease is a very rare genetic condition as both parents must carry the defective ATP7B gene to pass it on. […] In patients with Wilson’s disease the breakdown and excretion of copper does not function properly so copper is deposited in various places in the body, such as the liver, brain, kidneys, and corneas. […] Wilson’s disease should be treated as early as possible and for the rest of the patient’s life. […] The aim of therapy is to achieve homeostasis (maintenance of the correct concentration) of copper. […] The current first-line treatment options are chelators (substances that bind copper, and allow it to be excreted from the body), are D-penicillamine and trientine salts. […] If the therapy does not work, a liver transplant can be lifesaving.

• #122 Wilson Disease – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/wilson-disease/

  Wilson disease is passed down from parents to their children through genes. Specifically, its caused by a mutation in a gene called ATP7B, which is involved in managing copper levels in the body. A person will have the disease if they inherit a copy of this faulty gene from each of their parents. […] Wilson disease is a genetic disorder that results from mutationsspecific changesin a gene known as ATP7B. It sits on chromosome 13, which houses the blueprint for a protein transporter that helps remove excess copper from your body. This transporter is predominantly found in the liver and brain. […] Wilson disease is primarily treated using medication that helps remove excess copper from the body through a process called chelation therapy. The preferred medicines for this treatment are penicillamine and trientine, with trientine often being preferred due to fewer side effects. Oral zinc supplements can also be used to reduce copper absorption in the body.

• #123 Wilson Disease – Disorders of Nutrition – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/disorders-of-nutrition/minerals/wilson-disease

  In Wilson disease, a rare hereditary disorder, the liver does not excrete excess copper into the bile as it normally does, resulting in accumulation of copper in the liver and liver damage. […] Because the liver does not excrete excess copper in people with Wilson disease, copper accumulates in the liver and damages it, causing cirrhosis and liver failure. […] Wilson disease affects about 1 person in 30,000. […] Doctors suspect Wilson disease based on symptoms (such as hepatitis, tremors, and personality changes) that have no obvious other cause and/or on the presence of Wilson disease in relatives. […] Without lifelong treatment, Wilson disease is fatal, usually by age 30. […] Liver transplantation can cure the disease and may be lifesaving for people who have Wilson disease and severe liver failure or severe liver problems that do not respond to drug treatment.

• #124 Wilson’s disease. Research. Cima Universidad de Navarra.

  https://cima.cun.es/en/diseases/rare-diseases/wilson-disease-research

  Wilson’s disease is an inherited disorder with an incidence of 1 case per 30,000 inhabitants. It is caused by mutation of the ATP7B gene, responsible for copper metabolism. Its mutation causes this metal to accumulate in the liver and then, through the bloodstream, it can reach other tissues, damaging the brain, kidneys and eyes. […] Cima initiated a line of research on this disease in 2014 that resulted in the design and innovation by gene therapy of a viral vector, VTX-801, capable of correcting the specific cause of Wilson’s disease (copper accumulation) and reversing the symptoms and pathological alterations associated with this pathology. […] Cima is committed to continuing research into the molecular mechanisms associated with Wilson’s disease.

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