multiple cutaneous and mucosal venous malformations
Findings
No curated finding names multiple cutaneous and mucosal venous malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
Definition from the Mondo Disease Ontology (MONDO:0010842), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Venous malformationHPOHP:0012721
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.
- TEKHGNC:11724
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: multiple cutaneous and mucosal venous malformations
- Also called
- cutaneous and mucosal venous malformationVMCM