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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
    Gene mutationChromosome rearrangementEffectComments
    other   haploinsufficiency