capillary malformation-arteriovenous malformation 1
MONDO:0020783Mondo
Findings
No curated finding names capillary malformation-arteriovenous malformation 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Capillary malformationHPOHP:0025104
- 48 of 50 reported patients
- Arteriovenous malformationHPOHP:0100026
- 8 of 50 reported patients
- Arteriovenous fistulaHPOHP:0004947
- 2 of 50 reported patients
- Capillary hemangiomaHPOHP:0005306
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.
- RASA1HGNC:9871
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: capillary malformation-arteriovenous malformation 1
- Also called
- CMAVM1RASA1-related capillary malformation-arteriovenous malformation