Ehlers-Danlos syndrome, vascular type
Findings
No curated finding names Ehlers-Danlos syndrome, vascular type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017314), read 2026-09-29. CC BY 4.0.
Features
47 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arteriovenous fistulaHPOHP:0004947
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- Colon perforationHPOHP:0031369
- Frequent (30% to 79% of cases)
- Dermal translucencyHPOHP:0010648
- Frequent (30% to 79% of cases)
- Internal hemorrhageHPOHP:0011029
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Mitral valve prolapse
Show the remaining 35
- Thin vermilion borderHPOHP:0000233
- Frequent (30% to 79% of cases)
- Varicose veinsHPOHP:0002619
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Occasional (5% to 29% of cases)
- Aortic aneurysmHPOHP:0004942
- Occasional (5% to 29% of cases)
- Aortic dissectionHPOHP:0002647
- Occasional (5% to 29% of cases)
- Arterial dissectionHPOHP:0005294
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL3A1HGNC:2201
- Definitive · ClinGen · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Ehlers-Danlos syndrome, vascular type
- Also called
- EDS IVEDS type 4Ehlers-Danlos syndrome type 4Ehlers-Danlos syndrome type IVEhlers-Danlos syndrome, type IVsack-Barabas syndrome