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GENATLAS PHENOTYPE

last update : 22-05-2018

Symbol	EDS1B
Location	2q32.2
Name	Ehlers-Danlos syndrome, gravis classical type 1b
Corresponding gene	COL5A2
Main clinical features	characterized by joint hyperextensibility fragile skin with widened atrophic scars joint, mitral valve prolapse, abnormally thin and steep corneas with floppy eyelids loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars skin is soft and transparent but not very extensible, and joint hypermobility is limited to the hands; severe and unexplained abdominal pain, repeated arterial ruptures
Genetic determination	autosomal dominant
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type V, alpha 2 (COL5A2)

Remark(s)