The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

COL3A1

—Collagen Type III Alpha 1 Chain

Chromosome: 2

Location: 2:188974371-189012746

OMIM: 120180

Ensembl: ENSG00000168542

Official·OMIM:120180 Official·ENSG00000168542

Encodes type III collagen alpha-1 chain. Mutations cause vascular Ehlers-Danlos (type IV).

Treatment Roadmap — COL3A1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Ehlers-Danlos Syndrome (Vascular Type)

Autosomal DominantPrevalence: 1/100000connective_tissue

Official·OMIM:130050 Official·ORPHA286

Summary

Clinical Trial

Approved Therapy

Registered Variant