Ehlers danlos vascular type

1rows Aug 2 20Vascular Ehlers-Danlos syndrome is typically caused by a change (mutation) in the COL3Agene. Vascular Ehlers-Danlos syndrome The Ehlers-Danlos Support UK Annabelleaposs Challenge is a registered charity raising awareness of vascular Ehlers-Danlos syndrome to help aid early diagnosis and prevent misdiagnosis of this life-threatening genetic condition. Rarely, it may be caused by a mutation in the COL1Agene. In this type the abnormality lies in procollagen type III (COL3A).

Collagen is a protein that provides structure and strength to connective tissues throughout the body. They are generally characterized by joint hypermobility (joints that stretch further than normal skin hyperextensibility (skin that can be stretched further than normal and tissue fragility).

The Ehlers-Danlos Syndrome Types: EDSaposs Many Forms

They provide help, support and advice to families affected by vascular EDS. This means that the tissue in the skin, joint capsules and walls of blood vessels, hollow organs and the gastrointestinal tract is abnormal. Sep 0 19Haploinsufficiency for one COL3Aallele of type III procollagen in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Vascular EDS is particularly serious because of the risk for spontaneous arterial or organ rupture. Vascular EDS (previously known as Ehlers-Danlos type IV) is a rare type of Ehlers-Danlos syndrome caused by an alteration, also known as a mutation in the COL3Agene.

The COL3Agene provides instructions for making a component of type III collagen. EDS Types The Ehlers Danlos Society : The Ehlers Danlos. COL3Agene is the instruction for making collagen type III a tough fibre-like protein that makes up a third of our body protein.
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