glomuvenous malformation
Findings
No curated finding names glomuvenous malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.
Definition from the Mondo Disease Ontology (MONDO:0007672), read 2026-09-29. CC BY 4.0.
Features
16 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 malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Venous malformationHPOHP:0012721
- Very frequent (80% to 99% of cases)
- Abnormal digit morphologyHPOHP:0011297
- Frequent (30% to 79% of cases)
- Skin noduleHPOHP:0200036
- Frequent (30% to 79% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Occasional (5% to 29% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Occasional (5% to 29% of cases)
- Generalized abnormality of skinHPOHP:0011354
- Occasional (5% to 29% of cases)
- Localized skin lesionHPOHP:0011355
- Occasional (5% to 29% of cases)
- PapuleHPOHP:0200034
- Occasional (5% to 29% of cases)
- Skin plaqueHPOHP:0200035
- Occasional (5% to 29% of cases)
- Abnormal mediastinum morphologyHPOHP:0045026
- Very rare (1% to 4% of cases)
- Abnormal nasal cavity morphologyHPOHP:0010640
- Very rare (1% to 4% of cases)
Show the remaining 4
- Abnormal renal morphologyHPOHP:0012210
- Very rare (1% to 4% of cases)
- Abnormal tracheal morphologyHPOHP:0002778
- Very rare (1% to 4% of cases)
- Gastrointestinal arteriovenous malformationHPOHP:0002629
- Very rare (1% to 4% of cases)
- Oral mucosa noduleHPOHP:0031445
- Very rare (1% to 4% 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.
- GLMNHGNC:14373
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: glomuvenous malformation
- Also called
- familial glomangiomahereditary glomangiomahereditary multiple glomangiomasmultiple glomus tumorsmultiple glomus tumoursVenous malformations with glomus cellsVMGLOM