DISEASES

Disease-gene associations mined from literature

Human genes for vascular type Ehlers-Danlos syndrome

Vascular type Ehlers-Danlos syndrome [DOID:14756]

An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.

Synonyms:  vascular type Ehlers-Danlos syndrome,  DOID:14756,  vascular type EhlersDanlos syndrome,  vascular type Ehlers-Danlos disease,  vascular type Ehlers-Danlos disorder ...

Linkouts:  OMIM