Details of Disease

General Information of Disease (ID: DIST4JDL)

• Disease Name: Autosomal dominant Ehlers-Danlos syndrome, vascular type
• Synonyms: Ehlers-Danlos syndrome, sack-Barabas type; Ehlers-Danlos syndrome, arterial type; Ehlers-Danlos syndrome, Ecchymotic type; EDSVASC; autosomal dominant type IV Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, vascular type; EDS 4; autosomal dominant Ehlers-Danlos syndrome, vascular type; Ehlers-Danlos syndrome, type IV, autosomal dominant; Ehlers-Danlos syndrome, vascular type, autosomal dominant
• Definition: The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.
• Disease Hierarchy:
  DISTZ07K: Ehlers-Danlos syndrome, vascular type
  DIS3HIWD: Autosomal dominant disease
  DIST4JDL: Autosomal dominant Ehlers-Danlos syndrome, vascular type
• Disease Identifiers:
  MONDO ID: MONDO_0007524
  UMLS CUI: C0268339
  MedGen ID: 541286

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL3A1	OTT1EMLM	Definitive	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.