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GENATLAS PHENOTYPE

last update : 23-01-2009

Symbol	EDS1C
Location	17q21.33
Name	Ehlers-Danlos syndrome, type Ic
Other name(s)	Ehlers-Danlos syndrome gravis type Ehlers-Danlos syndrome classic type
Corresponding gene	COL1A1
Main clinical features	joint hyperextensibility, joint hypermobility, widened atrophic scars 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 1,alpha 1(COL1A1)

Remark(s)