autosomal dominant Ehlers-Danlos syndrome, vascular type
Findings
No curated finding names autosomal dominant Ehlers-Danlos syndrome, vascular type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007524), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
34 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Ascending aortic dissectionHPOHP:0004933
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 11 of 11 reported patients
- Combined cystic and ground-glass pattern on pulmonary HRCTHPOHP:0025395
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Dermal translucencyHPOHP:0010648
- 3 of 3 reported patients
- Diffuse alveolar hemorrhageHPO
Show the remaining 22
- Nodular pattern on pulmonary HRCTHPOHP:0025392
- 1 of 1 reported patient
- PneumothoraxHPOHP:0002107
- 2 of 2 reported patients
- Spontaneous pneumothoraxHPOHP:0002108
- 1 of 1 reported patient
- EmphysemaHPOHP:0002097
- 8 of 9 reported patients
- HemothoraxHPOHP:0012151
- 3 of 4 reported patients
- Pulmonary bullaHPOHP:0032446
- 2 of 3 reported patients
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 · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: autosomal dominant Ehlers-Danlos syndrome, vascular type
- Also called
- Ehlers-Danlos syndrome, type IV, autosomal dominantEhlers-Danlos syndrome, vascular type, autosomal dominant