vascular type Ehlers-Danlos syndrome

Term ID

DOID:14756

Synonyms

• autosomal dominant type IV Ehlers-Danlos syndrome

Definition

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. https://pubmed.ncbi.nlm.nih.gov/21637106/

References

• GARD:2082
• NCI:C125699
• OMIM:130050
• ORDO:286

Ontology

Human Disease   ( DOID:14756 )