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The others are very rare. For example, fewer than 10 infants and children with dermatosparaxis EDS have been described worldwide. Some types of EDS are more common in Ashkenazi Jews. For example, the chance of being a carrier for dermatosparaxis EDS is one in 2,000 in the general population but one in 248 among Ashkenazi Jews. [139]
Ehlers-Danlos syndrome, dermatosparaxis type is caused by mutations in the ADAMTS2 gene. [6] Several mutations in the ADAMTS2 gene have been identified in people with this syndrome. These mutations greatly reduce the production of the enzyme made by the ADAMTS2 gene. Procollagen cannot be processed correctly without this enzyme.
In cattle and sheep, it is called dermatosparaxis [2] ('torn skin'). The skin is also abnormally fragile. The skin flaps peel or slough off very easily, often without causing bleeding. This explains why cats with the condition suddenly "molt" their wings. [citation needed] It is variously known as: Ehlers–Danlos syndrome — humans
Dermatosparaxis variant of Ehlers–Danlos syndrome: AGPAT2: Berardinelli–Seip syndrome: AIRE: APECED syndrome: APC: Familial polyposis coli Gardner syndrome: ATM: Ataxia telangiectasia: ATP2A2: SERCA2 protein: Darier disease Acrokeratosis verruciformis of Hopf: ATP2C1: Hailey–Hailey disease: ATP7A: Menkes kinky hair syndrome Occipital horn ...
Ehlers-Danlos syndrome is a genetic disorder in humans and animals which can cause connective tissue disorders, hyper mobility, bruising, and a range of other issues. In cats it cause limb ...
Procollagen peptidase (EC 3.4.24.14, procollagen N-terminal peptidase, procollagen aminopeptidase, aminoprocollagen peptidase, aminoterminal procollagen peptidase, procollagen aminoterminal protease, procollagen N-terminal proteinase, type I/II procollagen N-proteinase, type III procollagen) is an endopeptidase involved in the processing of collagen.
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Henri-Alexandre Danlos (/ ˈ d æ n l ɒ s /, French pronunciation: [ɑ̃ʁi alɛksɑ̃dʁ(ə) dɑ̃los]; 26 March 1844 – 12 September 1912) was a French physician and dermatologist born in Paris. With Danish dermatologist Edvard Ehlers (1863-1937), the Ehlers–Danlos syndromes , which comprise a group of inherited connective-tissue ...