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glomuvenous malformation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glomuvenous malformation

MONDO:0007672

Also known as:VMGLOMVenous malformations with glomus cellsfamilial glomangioma

Overview

Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.

GeneticsAutosomal dominant · GLMN (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Venous malformation and Arteriovenous malformation; and common findings: Abnormal digit morphology and Skin nodule. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Abnormality of the skin, Skin nodule, Generalized abnormality of skin

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GLMN encodes glomulin, FKBP associated protein (594 aa). Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes. Highest expression in Brain Cerebellar Hemisphere (20.3 TPM) and Cells EBV-transformed lymphocytes (16.9 TPM).

Glomuvenous malformation is associated with mutations in the GLMN gene on chromosome 1.

GLMN is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for GLMN is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for glomuvenous malformation.

21 publications have been identified in PubMed for glomuvenous malformation. Research spans Case Report / Case Series (62%), Review / Meta-Analysis (19%), and Other (14%).

Research Type	Count	% of Total
Patient case studies	13	62%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:138000

Orphanet

European rare disease database

Orphanet:83454

GARD

Genetic and Rare Diseases Info Center

GARD:16728

Questions for Your Care Team

→Should I pursue genetic testing for GLMN, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

glomuvenous malformation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

glomuvenous malformation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications