COL3A1

1 article(s) in the watch · Constitutional genetics

COL3A1 encodes type III collagen. Its deficiency causes vascular Ehlers-Danlos syndrome, with risk of arterial and visceral rupture.

InheritanceAutosomal dominant

Clinical spectrumArterial, intestinal and uterine rupture, tissue fragility

ManagementSpecialist vascular follow-up; celiprolol; surgical and obstetric precautions.

Curated publications

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First Non-European Cohort

Vascular Ehlers-Danlos syndrome (vEDS)