Details of Disease

General Information of Disease (ID: DISTZ07K)

• Disease Name: Ehlers-Danlos syndrome, vascular type
• Synonyms: vascular EDS; vEDS; Ehlers Danlos syndrome, ecchymotic type; EDS4 (formerly); vascular Ehlers-Danlos syndrome; Ehlers Danlos syndrome, arterial type; EDS IV (formerly); Ehlers-Danlos syndrome type 4 (formerly); EDS type 4 (formerly); Ehlers-Danlos syndrome type IV (formerly); Ehlers Danlos syndrome, sack-Barabas type; Ehlers-Danlos syndrome, type IV; EDS IV; Ehlers-Danlos syndrome type IV; Ehlers-Danlos syndrome type 4; Ehlers-Danlos syndrome, vascular type; EDS type 4; sack-Barabas syndrome
• Definition: Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DISVS67S: Vascular disease
  DISTZ07K: Ehlers-Danlos syndrome, vascular type
• Disease Identifiers:
  MONDO ID: MONDO_0017314
  MESH ID: D000094623
  UMLS CUI: C0268338
  OMIM ID: 130050
  MedGen ID: 82790
  Orphanet ID: 286
  SNOMED CT ID: 17025000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A13	DTOTKBS	Definitive	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADGRG1	OTQBB8NT	Strong	Biomarker	[2]
COL3A1	OTT1EMLM	Definitive	Autosomal dominant	[3]

References

• [1] The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.
• [2] Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.PLoS One. 2012;7(1):e29767. doi: 10.1371/journal.pone.0029767. Epub 2012 Jan 3.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.