Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 22-05-2018

Symbol	EDS1A
Location	9q34.3
Name	Ehlers-Danlos syndrome, gravis classical type
Corresponding gene	COL5A1
Other symbol(s)	EDSCL1
Main clinical features	characterized by joint hyperextensibility, widened atrophic scars, joint hypermobility, premature birth due to premature rupture of fetal membrane 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 1 (COL5A1), haploinsufficiency in one third of individuals

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
other		haploinsufficiency

Remark(s)