Materiały źródłowe

• #1 Ehlers-Danlos syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125

  Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues primarily your skin, joints and blood vessel walls. […] Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. […] If you have the most common form, hypermobile Ehlers-Danlos syndrome, there’s a 50% chance that you’ll pass on the gene to each of your children.

• #1 Ehlers-Danlos Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17813-ehlers-danlos-syndrome

  Ehlers-Danlos syndrome is a genetic disorder. Talk to a healthcare provider about testing for EDS if someone in your biological family has it (an immediate relative like a biological parent, grandparent or sibling). […] A genetic mutation causes Ehlers-Danlos syndrome. Genetic mutations are changes to your DNA sequence that happen during cell division when your cells make copies of themselves. If part of your DNA sequence is in the wrong place, isnt complete or is damaged, you might experience symptoms of a genetic condition. […] Experts have identified more than 20 different genetic mutations that can cause Ehlers-Danlos syndrome. They all affect your bodys ability to produce collagen. Which specific mutation you have determines which parts of your body are affected. […] Some types of Ehlers-Danlos syndrome are inheritable. This means biological parents can pass the mutations to their children. Other types happen somatically they happen randomly and cant be passed through generations of a family.

• #1 Ehlers-Danlos Syndrome (EDS) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/ehlers-danlos-syndrome

  Ehlers-Danlos syndrome (EDS) is a genetic disorder, caused by at least one copy of an altered gene. In some types of EDS, two copies of the gene are altered. […] Sometimes the genetic mutation is inherited from a parent. In other cases, mutations can occur spontaneously in children with no family history of the disorder.

• #1 Ehlers–Danlos syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome

  Every type of EDS except the hypermobile type (which affects the vast majority of people with EDS) can be positively tied to specific genetic variation. Variations in these genes can cause EDS: Collagen primary structure and collagen processing: ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2. Collagen folding and collagen cross-linking: PLOD1, FKBP14. Structure and function of myomatrix: TNXB, COL12A1. Glycosaminoglycan biosynthesis: B4GALT7, B3GALT6, CHST14, DSE. Complement pathway: C1R, C1S. Intracellular processes: SLC39A13, ZNF469, PRDM5. […] Variations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. Inheritance patterns depend on the specific syndrome.

• #1 Vascular Ehlers Danlos Syndrom | VEDS | Marfan Foundation

  https://marfan.org/conditions/veds/

  Vascular Ehlers-Danlos Syndrome, or VEDS, is a genetic condition that affects the bodys connective tissue. Connective tissue holds all the bodys cells, organs, and tissue together. It also plays an important role in helping the body grow and develop properly. […] VEDS is caused by changes (or mutations) in the gene called COL3A1 that tells the body how to make collagen III. These mutations can result in faulty collagen III throughout the body or a reduction in the amount of normal collagen III in the body (depending on the mutation type). This creates the features and medical problems associated with VEDS. […] About half of people with Vascular Ehlers-Danlos syndrome inherited the COL3A1 mutation from an affected parent. The others have a spontaneous disease-causing mutation (called a de novo mutation) that occurred in either the egg or the sperm that gave rise to the pregnancy. […] When the father or mother has VEDS, each offspring has a 50 percent chance of inheriting the altered copy of the gene. […] This pattern of inheritance is referred to as autosomal dominant.

• #1 Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01559-1

  EhlersDanlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. […] The molecular pathways leading to EDS are diverse. These include dominantly-inherited structural abnormalities of fibrillar collagens, exerting their effect through haploinsufficiency or dominant negative mechanisms; and recessively-inherited defects in collagen and other extracellular matrix-modifying enzymes that instigate disease through loss of protein function. […] Through clinical phenotyping, histological analysis and electron microscopy, combined with molecular genetic studies, we describe a dominantly-inherited previously uncharacterized connective tissue disease with features of EDS with prominent vascular involvement, caused by a heterozygous pathogenic variant in THBS2.

• #1 Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type | Genetics in Medicine

  https://www.nature.com/articles/gim2010100

  Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility. […] It is currently estimated that approximately 50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the 1 and the 2-chain of type V collagen, respectively. […] In the majority of patients with molecularly characterized classic Ehlers-Danlos syndrome, the disease is caused by a mutation leading to a nonfunctional COL5A1 allele and resulting in haploinsufficiency of type V collagen. […] A smaller proportion of patients harbor a structural mutation in COL5A1 or COL5A2, causing the production of a functionally defective type V collagen protein.

• #1 Ehlers-Danlos Syndromes: Symptoms, Treatment, and Types

  https://patient.info/bones-joints-muscles/ehlers-danlos-syndrome-leaflet

  The syndromes are genetic conditions. The genes which cause most types of EDS have been clearly identified and can be tested for. However, the most common form of EDS, hypermobility EDS (hEDS), is an exception to this, as the gene which causes it has not yet been identified. […] In some cases, the faulty gene is inherited from an affected parent. However, a person may also be affected if there is a new mutation in the gene, in which case EDS may occur in people with no medical history of the disorder in their family. […] The more common types of EDS show autosomal dominant inheritance, meaning having one faulty gene, from one parent, will cause the condition (and the parent will also have the condition). Rarer types of EDS show autosomal recessive inheritance.

• #1 Ehlers-Danlos Syndrome: Tests, Treatment, and Prognosis

  https://www.verywellhealth.com/ehlers-danlos-syndrome-overview-4782662

  Ehlers-Danlos syndrome (EDS) refers to a group of genetic connective tissue disorders. […] There are at least 19 gene mutations that have been linked to the development of EDS. EDS causes defects in the genes that process and form collagenthe protein found in muscles, bones, blood vessels, skin, and other connective tissues. For most people, the condition is inherited. However, there are cases where the condition is not inherited. […] Some of the genes associated with EDS are COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2. These genes are responsible for providing instructions for making sections of collagen. […] Mutations to any of these genes can disrupt the production and processing of collagen, leading to weak connective tissues. […] The inheritance pattern for EDS differs based on the type. Classic, vascular, arthrochalasia, periodontal, and hypermobility types follow an autosomal dominant inheritance patternwhere one copy of the mutated gene is enough for the disease to develop.

• #1 What is Vascular Ehlers-Danlos Syndrome (VEDS): Symptoms, Causes, and Diagnosis

  https://discoverceliprolol.com/what-is-vascular-ehlers-danlos-syndrome/

  Vascular Ehlers-Danlos Syndrome is caused by mutations in the COL3A1 gene, which encodes for type III collagen, a major component of blood vessels and organs. […] Mutations in the COL3A1 gene can lead to the production of abnormal type III collagen or a reduced amount of the protein, resulting in weakened blood vessels and organs. […] VEDS is an inherited disorder, which means that it is passed down from parents to their children. […] It is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from a parent to develop the condition. […] However, it is important to note that up to 50% of cases of VEDS occur due to a de novo mutation, meaning that the mutation occurred spontaneously and was not inherited from a parent. […] Vascular Ehlers-Danlos Syndrome is a rare genetic disorder that is caused by mutations in the COL3A1 gene. […] This can result in the production of abnormal type III collagen, which can weaken the walls of blood vessels and other tissues, leading to potentially life-threatening complications.

• #1 Ehlers-Danlos Syndrome | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/diseases-and-conditions/ehlers-danlos-syndrome

  Ehlers-Danlos syndrome (EDS) is a group of rare genetic disorders. These disorders affect the way collagen is made or used in the body. […] A change, or mutation, in a certain gene can lead to EDS. This change is often passed down in families. Or it may happen during development. Many different genes can affect the way collagen is made or used in the body. The different types of EDS are partly based on which gene is affected. […] The most common type of EDS, hypermobile EDS, is regarded as a genetic condition but the genetic cause is unknown as the responsible gene(s) has not been identified.

• #1 Genetics and Inheritance of EDS and HSD – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/genetics-and-inheritance/

  It is suspected that there are multiple genetic variants that cause hEDS. Several genetic variants have been associated with hEDS, but these variants represent a very small number of cases of hEDS, with some only being reported in one family. Genetic testing is not available for hEDS because the genetic cause of most cases is unknown. Instead, the diagnosis of hEDS is given to those who meet the clinical diagnostic criteria for hEDS. […] The cause(s) of HSD have not been identified. Currently, we do not know if HSD is a genetic disorder. We do know that joint hypermobility tends to run in families, but not everyone with joint hypermobility has a type of HSD. More research is needed to better understand the cause(s) of HSD.

• #1 Genetics and Inheritance of EDS and HSD – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/genetics-and-inheritance/

  The Ehlers-Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Each type of EDS is caused by pathogenic variants of genes that provide the instructions for making connective tissue proteins. hEDS is the most common type of EDS, but the genetic cause(s) of hEDS are unknown. The other types of EDS are associated with specific pathogenic variants. Genetic testing is available for every type of EDS except for hEDS. […] The Ehlers-Danlos syndromes are a group of heritable connective tissue disorders. Each type is caused by pathogenic genetic variants that prevent connective tissue from functioning properly. Twelve types of EDS have known genetic causes, and some types are associated with multiple different genes. The genetic cause(s) of hEDS have not been identified. […] The genetic causes of hEDS have not been identified, but hEDS appears to follow a dominant inheritance pattern. There are several research studies around the world currently working to identify the genetic cause(s) of hEDS, including the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study. Researchers are also studying other factors that can contribute to the development of hEDS.

• #1 Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01559-1

  Our findings demonstrate that the novel form of EDS we describe is caused by a heterozygous missense pathogenic variant in THBS2. […] The p.Cys896Arg variant lies within a highly evolutionary-conserved region of THBS2. […] Notably, THBS2 encodes Thrombospondin-2, a secreted homotrimeric matricellular protein that directly binds the ECM-shaping Matrix Metalloproteinase 2 (MMP2), mediating its clearance. THBS2 loss-of-function attenuates MMP2 clearance, enhancing MMP2-mediated proteoglycan cleavage, causing ECM abnormalities similar to those seen in the human and mouse disease we describe.

• #1 MUSC researchers announce gene mutation discovery associated with EDS | MUSC | Charleston, SC

  https://web.musc.edu/about/news-center/2021/07/14/musc-researchers-announce-gene-mutation-discovery-associated-with-eds-ehlers-danlos

  EDS is thought to affect 1 in 1,000 people. The syndrome is divided into 13 subtypes, which can cause hypermobile joints, a tendency for joints to dislocate, easy bruising, internal bleeding, heart valve problems and more. Because connective tissue is found throughout the body, the disorder can cause problems anywhere in the body. […] Mutations in some 20 genes have been found to be responsible for some of the subtypes. But the gene associated with the most common subtype, hypermobile Ehlers-Danlos syndrome, or hEDS, has remained officially unknown. […] Russell Chip Norris, Ph.D., a professor in the Department of Regenerative Medicine and Cell Biology, and his team believe they have identified a gene mutation associated with hEDS. […] Even so, people with EDS want that validation that there is a physical cause behind their constellation of symptoms, which patients often deal with individually for years before someone finally realizes the seemingly unrelated ailments all point to EDS.

• #1 Genetics of Ehlers-Danlos Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/943567-overview

  Elastin and other structural proteins are woven onto the microfibrillar array to provide the basic meshwork for the connective-tissue matrix. […] Abnormalities of elastin have been associated with other connective-tissue disorders such as cutis laxa. […] Proteoglycans are core proteins that are bound to glycosaminoglycans (also commonly termed mucopolysaccharides). […] Ehlers-Danlos syndrome is a genetic disorder. As such, this syndrome and its various types are present at birth; however, symptoms may not become apparent until later in life.

• #1 What Is the Life Expectancy for Someone With Ehlers-Danlos Syndrome?

  https://www.emedicinehealth.com/ehlers-danlos_syndrome_life_expectancy/article_em.htm

  Ehlers-Danlos syndrome (EDS) refers to a group of 13 different connective-tissue disorders that involve a genetic mutation in collagen and connective-tissue production and structure. […] Genetics cause most kinds of Ehlers-Danlos syndrome. People usually inherit an abnormal gene from one or both parents, but in some cases, the abnormal gene occurs on its own. […] About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years. […] The lifespan of patients with the kyphoscoliosis type of EDS is decreased, due to the condition’s effects on the vascular system and the potential for restrictive lung disease.

• #1 What Causes Ehlers Danlos Syndrome? | Marfan Foundation

  https://marfan.org/conditions/ehlers-danlos/

  Ehlers-Danlos syndrome is a diverse connective tissue condition that has thirteen different subtypes. This group of genetic connective tissue conditions is commonly characterized by unstable, hypermobile joints, loose, stretchy skin, and fragile tissues. […] However, some subtypes, such as Vascular Ehlers-Danlos and Kyphoscoliotic Ehlers-Danlos, are prone to life-threatening arterial dissections and ruptures. […] The genetic mutations for all forms of Ehlers-Danlos syndrome are known except for hypermobile Ehlers-Danlos syndrome. It is very important that people with any form of Ehlers-Danlos syndrome are diagnosed early so they can begin the right treatments to prevent serious complications. […] Like Marfan syndrome, all the Ehlers-Danlos syndrome are caused by a defect in the body’s connective tissue. The genetic mutations responsible for the 12 of the 13 forms of Ehlers-Danlos syndromes are due to defects in proteins called collagens or other related proteins. Mutations in these genes usually change the structure, production, and/or processing of collagen, or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs, resulting in the signs and symptoms of EDS.

• #2 Ehlers-Danlos Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549814/

  Ehlers-Danlos syndrome is an intriguing group of inherited collagen and extracellular matrix protein disorders with a wide array of phenotypic expressions. EDS is most often an autosomal dominant trait, but up to 50% of patients can have a de novo mutation. EDS has long been characterized by subtypes using the 1997 Villefranche classification system, an update from the original Berlin system initially published in 1988. It is noteworthy that this is a collection of syndromes with similar genetic etiologies that have become more clearly described in the literature over the last several decades. In 2017, the International EDS Consortium published a new international classification system to replace the outdated numerical Villefranche classification. Due to the heterogeneity and overlap of the clinical presentation of the EDS subtypes, the goal of the new classification system was not only to describe suggestive clinical criteria for each subtype but also present data for genetic and molecular diagnostic confirmation for all subtypes except the hypermobile type.

• #2 Ehlers-Danlos syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/

  Variants (also known as mutations) in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Variants in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. […] Most cases of the vascular type result from variants in the COL3A1 gene, although rarely this type is caused by certain COL1A1 gene variants. […] Some of the genes associated with the Ehlers-Danlos syndromes, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. […] Variants in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. […] Some genes associated with recently described types of Ehlers-Danlos syndrome have functions that appear to be unrelated to collagen. For many of these genes, it is not clear how variants lead to hypermobility, elastic skin, and other features of these conditions.

• #2 Ehlers-Danlos Syndromes: Symptoms, Treatment, and Types

  https://patient.info/bones-joints-muscles/ehlers-danlos-syndrome-leaflet

  The syndromes are genetic conditions. The genes which cause most types of EDS have been clearly identified and can be tested for. However, the most common form of EDS, hypermobility EDS (hEDS), is an exception to this, as the gene which causes it has not yet been identified. […] In some cases, the faulty gene is inherited from an affected parent. However, a person may also be affected if there is a new mutation in the gene, in which case EDS may occur in people with no medical history of the disorder in their family. […] The more common types of EDS show autosomal dominant inheritance, meaning having one faulty gene, from one parent, will cause the condition (and the parent will also have the condition). Rarer types of EDS show autosomal recessive inheritance.

• #2 Ehlers-Danlos Syndrome: Tests, Treatment, and Prognosis

  https://www.verywellhealth.com/ehlers-danlos-syndrome-overview-4782662

  It is also possible to develop EDS from a new gene mutation and to have no history of EDS in the family. […] The classical-like, cardio-valvular, dermatosparaxis, kyphoscoliosis, spondylodysplastic, and musculocontractural types and brittle cornea syndrome are inherited in an autosomal recessive pattern, where a person inherited two mutated genes, one from each parent. […] Myopathic EDS can follow either an autosomal dominant or autosomal recessive inheritance pattern.

• #2 Causes of EDS | Ehlers-Danlos NewsEnvelope icon

  https://ehlersdanlosnews.com/causes-of-eds/

  Ehlers-Danlos syndrome (EDS) is a group of related genetic disorders that affect the structure and function of connective tissue, resulting in symptoms such as abnormally flexible joints and fragile skin. Mutations in at least 20 different genes are known to cause different types of EDS, though in some cases, the underlying genetic cause is unknown. […] Many EDS-causing mutations affect the production and function of collagen, a kind of structural protein that is the main component of the extracellular matrix — the net of proteins and other molecules that helps to keep cells in place and give bodily tissues their structure and shape. […] Mutations in genes that encode different kinds or parts of collagen proteins, such as COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and COL12A1, cause some types of EDS.

• #2 Causes of EDS | Ehlers-Danlos NewsEnvelope icon

  https://ehlersdanlosnews.com/causes-of-eds/

  Other EDS-associated genes encode for proteins that either are involved in the production of collagen, or interact with mature collagen proteins in the extracellular matrix. […] EDS is currently divided into 13 different types, each of which has a characteristic set of clinical symptoms and is caused by mutations in different genes. […] Classical EDS is characterized by abnormally stretchy skin, mobile joints, and scarring. The vast majority of cases are caused by mutations in the COL5A1 or COL5A2 genes, both of which encode components of a form of collagen called type V collagen. […] Cardiac-valvular EDS is associated with mutations in the COL1A2 gene, which encodes a component of type I collagen. […] Arthrochalasia EDS is caused by certain mutations in the COL1A1 or COL1A2 gene, both of which code for components of type 1 collagen.

• #2 Side by side – vascular EDS and hypermobile EDS compared

  https://www.ehlers-danlos.org/information/side-by-side-vascular-eds-and-hypermobile-eds-compared/

  Vascular EDS (vEDS) is a rare type of EDS. It is inherited in an autosomal dominant way which means that if a person has vEDS there is a 50% (1 in 2) chance that the condition will passed on to a child in each pregnancy. Vascular EDS is caused by a genetic alteration in a gene called COL3A1. The role of this gene is to make a protein named collagen type 3 which strengthens blood vessel walls, hollow organs (such as the stomach, bladder and intestines), and the skin. A genetic alteration in COL3A1 results in a decrease in production of normal collagen type 3 which makes the tissues more fragile and prone to rupture. […] Hypermobile EDS (hEDS) is diagnosed clinically and a specific genetic cause has not yet been identified, although a genetic component is suspected, given the way that hEDS often runs in families.

• #2 Genetics of Ehlers-Danlos Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/943567-overview

  Ehlers-Danlos syndrome (EDS) consists of a group of inherited heterogeneous disorders that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. […] This group of connective-tissue disorders is characterized by abnormal collagen synthesis causing hyperextensibility of the skin, hypermobility of the joints, and tissue fragility, as is seen by easy bruising and delayed wound healing with atrophic scarring. […] Ehlers-Danlos syndrome (EDS) is caused by various abnormalities in the synthesis and metabolism of collagen and other connective-tissue proteins in the ECM, such as elastin, proteoglycans, and macromolecular proteins. […] Collagen is the most abundant protein in the body and is the most common protein found in the ECM. […] A minimum of 29 genes contribute to collagen protein structure, and these genes are located on 15 different human chromosomes, genetically coding for no less than 19 identifiable forms of collagen molecules.

• #2 Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type | Genetics in Medicine

  https://www.nature.com/articles/gim2010100

  Most mutations identified so far result in a reduced amount of type V collagen in the connective tissues available for collagen fibrillogenesis. […] The most common types of molecular defect lead to haploinsufficiency for the COL5A1 mRNA. […] In approximately one third of individuals with classic EDS, nonsense or frameshift mutations are responsible for a nonfunctional COL5A1 allele. […] Structural mutations in the COL5A1, which exert a dominant-negative effect, have been demonstrated in a few individuals with classic EDS. […] These structural mutations are most commonly splice site mutations that result in exon skipping and a few point mutations that result in the substitution for glycine in the triple-helical region of the collagen molecule. […] Two COL5A1 mutations have been reported deleting one or more highly conserved cysteine residues in the C-terminal propeptide of the 1(V) collagen chain, which are essential for intrachain disulphide bonding before assembly of the pro-chains and initiation of triple-helix folding of fibrillar collagen molecules.

• #2 Ehlers-Danlos Syndrome: Tests, Treatment, and Prognosis

  https://www.verywellhealth.com/ehlers-danlos-syndrome-overview-4782662

  Ehlers-Danlos syndrome (EDS) refers to a group of genetic connective tissue disorders. […] There are at least 19 gene mutations that have been linked to the development of EDS. EDS causes defects in the genes that process and form collagenthe protein found in muscles, bones, blood vessels, skin, and other connective tissues. For most people, the condition is inherited. However, there are cases where the condition is not inherited. […] Some of the genes associated with EDS are COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2. These genes are responsible for providing instructions for making sections of collagen. […] Mutations to any of these genes can disrupt the production and processing of collagen, leading to weak connective tissues. […] The inheritance pattern for EDS differs based on the type. Classic, vascular, arthrochalasia, periodontal, and hypermobility types follow an autosomal dominant inheritance patternwhere one copy of the mutated gene is enough for the disease to develop.

• #2 Vascular Ehlers Danlos Syndrom | VEDS | Marfan Foundation

  https://marfan.org/conditions/veds/

  Vascular Ehlers-Danlos Syndrome, or VEDS, is a genetic condition that affects the bodys connective tissue. Connective tissue holds all the bodys cells, organs, and tissue together. It also plays an important role in helping the body grow and develop properly. […] VEDS is caused by changes (or mutations) in the gene called COL3A1 that tells the body how to make collagen III. These mutations can result in faulty collagen III throughout the body or a reduction in the amount of normal collagen III in the body (depending on the mutation type). This creates the features and medical problems associated with VEDS. […] About half of people with Vascular Ehlers-Danlos syndrome inherited the COL3A1 mutation from an affected parent. The others have a spontaneous disease-causing mutation (called a de novo mutation) that occurred in either the egg or the sperm that gave rise to the pregnancy. […] When the father or mother has VEDS, each offspring has a 50 percent chance of inheriting the altered copy of the gene. […] This pattern of inheritance is referred to as autosomal dominant.

• #2 Genetics and Inheritance of EDS and HSD – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/genetics-and-inheritance/

  The Ehlers-Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Each type of EDS is caused by pathogenic variants of genes that provide the instructions for making connective tissue proteins. hEDS is the most common type of EDS, but the genetic cause(s) of hEDS are unknown. The other types of EDS are associated with specific pathogenic variants. Genetic testing is available for every type of EDS except for hEDS. […] The Ehlers-Danlos syndromes are a group of heritable connective tissue disorders. Each type is caused by pathogenic genetic variants that prevent connective tissue from functioning properly. Twelve types of EDS have known genetic causes, and some types are associated with multiple different genes. The genetic cause(s) of hEDS have not been identified. […] The genetic causes of hEDS have not been identified, but hEDS appears to follow a dominant inheritance pattern. There are several research studies around the world currently working to identify the genetic cause(s) of hEDS, including the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study. Researchers are also studying other factors that can contribute to the development of hEDS.

• #2 Hypermobile Ehlers Danlos Syndrome (EDS) and related disorders | Reach Peds Rehab

  http://reachpedsrehab.com/what-we-treat/diagnoses/hypermobile-ehlers-danlos-syndrome-eds-and-related-disorders/

  Like other Ehlers-Danlos syndromes, hypermobile EDS is genetic. The specific gene that causes hypermobile EDS is currently unknown. […] According to the NIH, hypermobility can be linked to a defect in collagen, a protein found in the connective tissue that aids in tissue repair and immune response.

• #2 MUSC researchers announce gene mutation discovery associated with EDS | MUSC | Charleston, SC

  https://web.musc.edu/about/news-center/2021/07/14/musc-researchers-announce-gene-mutation-discovery-associated-with-eds-ehlers-danlos

  EDS is thought to affect 1 in 1,000 people. The syndrome is divided into 13 subtypes, which can cause hypermobile joints, a tendency for joints to dislocate, easy bruising, internal bleeding, heart valve problems and more. Because connective tissue is found throughout the body, the disorder can cause problems anywhere in the body. […] Mutations in some 20 genes have been found to be responsible for some of the subtypes. But the gene associated with the most common subtype, hypermobile Ehlers-Danlos syndrome, or hEDS, has remained officially unknown. […] Russell Chip Norris, Ph.D., a professor in the Department of Regenerative Medicine and Cell Biology, and his team believe they have identified a gene mutation associated with hEDS. […] Even so, people with EDS want that validation that there is a physical cause behind their constellation of symptoms, which patients often deal with individually for years before someone finally realizes the seemingly unrelated ailments all point to EDS.

• #2 Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01559-1

  Our findings demonstrate that the novel form of EDS we describe is caused by a heterozygous missense pathogenic variant in THBS2. […] The p.Cys896Arg variant lies within a highly evolutionary-conserved region of THBS2. […] Notably, THBS2 encodes Thrombospondin-2, a secreted homotrimeric matricellular protein that directly binds the ECM-shaping Matrix Metalloproteinase 2 (MMP2), mediating its clearance. THBS2 loss-of-function attenuates MMP2 clearance, enhancing MMP2-mediated proteoglycan cleavage, causing ECM abnormalities similar to those seen in the human and mouse disease we describe.

• #2 MUSC researchers announce gene mutation discovery associated with EDS | MUSC | Charleston, SC

  https://web.musc.edu/about/news-center/2021/07/14/musc-researchers-announce-gene-mutation-discovery-associated-with-eds-ehlers-danlos

  There is this misconception with a lot of doctors that EDS is just being double jointed, and that these patients arent suffering with chronic pain, hospitalizations and surgeries. […] By identifying a cause for the disease, we can now begin understanding the disease more thoroughly. This will help us diagnose earlier and provide clues for treatments.

• #2 What Is the Life Expectancy for Someone With Ehlers-Danlos Syndrome?

  https://www.emedicinehealth.com/ehlers-danlos_syndrome_life_expectancy/article_em.htm

  Ehlers-Danlos syndrome (EDS) refers to a group of 13 different connective-tissue disorders that involve a genetic mutation in collagen and connective-tissue production and structure. […] Genetics cause most kinds of Ehlers-Danlos syndrome. People usually inherit an abnormal gene from one or both parents, but in some cases, the abnormal gene occurs on its own. […] About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years. […] The lifespan of patients with the kyphoscoliosis type of EDS is decreased, due to the condition’s effects on the vascular system and the potential for restrictive lung disease.

• #2

  https://www.chronicpainpartners.com/causes-signs-diagnosis-treatment-ehlers-danlos-syndromes/

  Ehlers-Danlos Syndromes (EDS), refer to a collection of inherited disorders that weaken the bodys connective tissuesnamely the skin, blood vessels, and joints. As a result patients typically have neuromuscular complications due to overly flexible joints (hypermobility), stretchy (or hyper-elastic) skin, and weak blood vessels that are prone to rupture. […] According to research from the Mayo Clinic, Ehlers-Danlos syndromes are thought to be the result of a defect in the structure and/or production of collagen (or proteins that intermingle with collagen) due to a mutation of the COL5A or COL3A genes. This affects the strength and elasticity of the bodys connective tissues, causes hyper-lose joints, and even end in rupture of blood vessels, the uterus, or intestine in severe conditions. […] In the majority of cases, these disorders are believed to be inherited, which means theyre passed from parent to child. […] For instance, Mayo Clinic researchers estimate that if one parent has vascular Ehlers-Danlos syndrome, which puts the blood vessels, uterus, and intestines at risk of rupturing, as a parent, you have a 50-percent risk of passing the same disorder onto your offspring.

• #2 What is EDS? – The Ehlers Danlos Society

  https://www.ehlers-danlos.com/what-is-eds/

  Each type of EDS is caused by variants in specific genes that provide the instructions for making collagens and related proteins. […] The genetic cause(s) of hEDS have not been identified. […] The Ehlers-Danlos syndromes are caused by changes in the genes that affect the structure and function of collagen and related connective tissue proteins.

• #3 What Causes Ehlers Danlos Syndrome? | Marfan Foundation

  https://marfan.org/conditions/ehlers-danlos/

  Ehlers-Danlos syndrome is a diverse connective tissue condition that has thirteen different subtypes. This group of genetic connective tissue conditions is commonly characterized by unstable, hypermobile joints, loose, stretchy skin, and fragile tissues. […] However, some subtypes, such as Vascular Ehlers-Danlos and Kyphoscoliotic Ehlers-Danlos, are prone to life-threatening arterial dissections and ruptures. […] The genetic mutations for all forms of Ehlers-Danlos syndrome are known except for hypermobile Ehlers-Danlos syndrome. It is very important that people with any form of Ehlers-Danlos syndrome are diagnosed early so they can begin the right treatments to prevent serious complications. […] Like Marfan syndrome, all the Ehlers-Danlos syndrome are caused by a defect in the body’s connective tissue. The genetic mutations responsible for the 12 of the 13 forms of Ehlers-Danlos syndromes are due to defects in proteins called collagens or other related proteins. Mutations in these genes usually change the structure, production, and/or processing of collagen, or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs, resulting in the signs and symptoms of EDS.

• #3 Ehlers-Danlos syndrome (EDS): types, symptoms, causes and genetics | Medicover Genetics

  https://medicover-genetics.com/ehlers-danlos-syndrome-eds-types-symptoms-causes-and-genetics/

  Ehlers-Danlos syndrome (EDS) is caused by abnormalities in the structure, production, and/or processing of collagen. […] Genetic changes in a number of genes may lead to the weakening of the connective tissue. The EDS subtypes can be divided into different groups based on defects in collagen biosynthesis and processing, collagen folding, the structure and function of the interface between muscle and the extracellular matrix, glycosaminoglycan biosynthesis, the complement pathway, and intracellular processes. […] Collagen biosynthesis, processing, and the assembly of collagen fibrils is impaired at different stages in the different EDS subtypes.

• #3 Causes of EDS | Ehlers-Danlos NewsEnvelope icon

  https://ehlersdanlosnews.com/causes-of-eds/

  Vascular EDS is mostly caused by mutations in the COL3A1 gene, which codes for a protein that forms type III collagen. […] Kyphoscoliotic EDS is caused by mutations in the genes PLOD1 or FKBP14. […] Dermatosparaxis EDS is caused by mutations in the ADAMTS2 gene. […] The rarest form of EDS, periodontal EDS, is caused by mutations in the C1R or C1S genes. […] Hypermobile EDS is assumed to be a genetic condition, since it can be passed from parents to their biological children, the specific genetic mutation or mutations that cause the disease are unknown in the vast majority of cases.

• #3 What is Vascular Ehlers-Danlos Syndrome (VEDS): Symptoms, Causes, and Diagnosis

  https://discoverceliprolol.com/what-is-vascular-ehlers-danlos-syndrome/

  Vascular Ehlers-Danlos Syndrome is caused by mutations in the COL3A1 gene, which encodes for type III collagen, a major component of blood vessels and organs. […] Mutations in the COL3A1 gene can lead to the production of abnormal type III collagen or a reduced amount of the protein, resulting in weakened blood vessels and organs. […] VEDS is an inherited disorder, which means that it is passed down from parents to their children. […] It is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from a parent to develop the condition. […] However, it is important to note that up to 50% of cases of VEDS occur due to a de novo mutation, meaning that the mutation occurred spontaneously and was not inherited from a parent. […] Vascular Ehlers-Danlos Syndrome is a rare genetic disorder that is caused by mutations in the COL3A1 gene. […] This can result in the production of abnormal type III collagen, which can weaken the walls of blood vessels and other tissues, leading to potentially life-threatening complications.

• #3 What is EDS: Types, Causes And Condition Management

  https://themighty.com/topic/ehlers-danlos-syndrome/what-is-ehlers-danlos-syndrome/

  There are two ways you might get EDS and the collagen-related symptoms that come with it. The first is inheriting the condition from your family. If one of your parents has the changed gene for EDS, they passed it to you. The other way you can get EDS, even if nobody in your family has it, is when your genes are copied wrong when you are conceived. This is called a de novo or new case of EDS. […] Some subtypes of EDS are transferred by a dominant gene, which means if your parents, siblings or children have the condition, you have a 50 percent chance of inheriting the same gene variant. […] Other types of EDS are considered recessive, which means you only have a 25 percent chance of inheriting EDS. […] Even if no one in your family has ever had EDS, you can still get the condition. When you get a new case of EDS, meaning it wasnt inherited from your family, its called de novo or new. This happens when your genes arent copied correctly during conception.

• #3 Research Advances in Understanding the Etiology, Epidemiology, Pathophysiology, Clinical Features, and Management of the Ehlers Danlos Syndrome Disorders | Frontiers Research Topic

  https://www.frontiersin.org/research-topics/31428/research-advances-in-understanding-the-etiology-epidemiology-pathophysiology-clinical-features-and-management-of-the-ehlers-danlos-syndrome-disordersundefined

  The Ehlers Danlos Syndrome (EDS) disorders are a group of heritable connective tissue disorders generally characterized by joint hypermobility and variable manifestations involving the skin, soft tissue and other body systems. […] The most common subtype of EDS is likely hypermobile EDS (hEDS), the only subtype relying on a clinical diagnosis and currently without a defined genetic basis. […] Moreover, the prevalence of certain subtypes like hEDS remain underappreciated, as does the mechanism driving hEDS-related pathology and co-morbid conditions, such as orthostatic intolerance or immunologic dysfunction.

• #3 EDS Info – Ehlers-Danlos Syndromes New Zealand

  https://ehlers-danlos.org.nz/eds-info/?srsltid=AfmBOoplU3xTcQBKuz-dDy_DuhXQ99h1llBQA07ORdT837x1wfrvGtqT

  Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that are generally inherited and are varied both in their genetic causes and how they affect the body. […] Each type of Ehlers-Danlos Syndrome is defined as having a distinct problem in the connective tissue. […] In a person with EDS, the connective tissue is not structured normally. […] The genetic basis and proteins/connective tissue that is involved are all known, except for Hypermobile EDS. […] A definitive diagnosis for all EDS subtypes (except for hEDS) is ideally made with a genetic test. […] Life expectancy can be shortened for those with Vascular Ehlers-Danlos Syndrome due to the possibility of organ and vessel rupture.

• #3 Ehlers Danlos Syndromes | Arthritis Foundation

  https://www.arthritis.org/diseases/ehlers-danlos-syndromes

  Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders that affect the connective tissues that provide strength and support for your body. […] Ehlers-Danlos syndrome is often inherited. Some types occur when there are two copies of an altered gene, one from each biological parent. Others need a copy from only one parent. […] Scientists have identified variations in 20 different genes that are responsible for Ehlers-Danlos syndrome. Most affect your body’s ability to make or process collagen, the main protein in connective tissue. […] The type, symptoms and severity of the disease depend on which genes are affected. For example, vascular EDS results from a mutation in a gene that tells the body how to make collagen III, which is associated with blood vessels, the intestine and uterus the parts of the body affected by vascular EDS. […] Hypermobile EDS is the only type without a known genetic cause. While it tends to run in families, no one has discovered a gene that causes it.

• #3 SPOTLIGHT ON EHLERS-DANLOS SYNDROME: SYMPTOMS, DIAGNOSIS, AND TREATMENT | Mya Care

  https://myacare.com/blog/spotlight-on-ehlersdanlos-syndrome-symptoms-diagnosis-and-treatment

  Ehlers-Danlos syndrome (EDS) references a group of hereditary genetic disorders that affect the connective tissues of the body. […] EDS is caused by genetic variations that affect the structure or processing of collagen, a protein that provides strength and elasticity to the connective tissues. Collagen is composed of different types and subtypes that are encoded by different genes. Depending on which gene is affected, different types of collagen or related proteins may be defective or reduced in quantity or quality. […] Most types of EDS are inherited in an autosomal dominant manner, indicating that a single copy of the mutated gene from either parent is sufficient to cause the disorder. More rare types of EDS are inherited in an autosomal recessive manner, in that copies of the mutated gene from both parents are needed to cause the disorder. In a few cases, a new mutation may occur during early development without any family history that can cause sudden EDS onset or worsening of symptoms.

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