Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

primary intraosseous venous malformation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary intraosseous venous malformation

MONDO:0011744

Also known as:intraosseous hemangiomaosseous venous malformationhemangioma, intraosseous

Overview

Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

GeneticsAutosomal recessive · ELMO2 (chr 20)

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 always present findings: Diastasis recti, Supraumbilical raphe, Ectopic tooth eruption, and Pale red blood cells (hypochromic anemia) and others; and very common findings: Visual loss, Elevated circulating alkaline phosphatase concentration, Umbilical hernia, and Proptosis. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Pale red blood cells (hypochromic anemia), Gingival bleeding

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.

ELMO2 encodes engulfment and cell motility 2 (720 aa). Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Highest expression in Brain Cerebellum (83.1 TPM) and Brain Cerebellar Hemisphere (81.9 TPM).

Primary intraosseous venous malformation is associated with mutations in the ELMO2 gene on chromosome 20.

ELMO2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ELMO2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary intraosseous venous malformation has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 4 very common features, 1 common feature.

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 primary intraosseous venous malformation.

27 publications have been identified in PubMed for primary intraosseous venous malformation. Research spans Case Report / Case Series (74%), Review / Meta-Analysis (15%), and Other (4%).

Research Type	Count	% of Total
Patient case studies	20	74%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606893

Orphanet

European rare disease database

Orphanet:140436

GARD

Genetic and Rare Diseases Info Center

GARD:16961

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

primary intraosseous venous 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

Latest News & Developments

Primary intraosseous meningioma in a child: an unusual case report and literature review.

Intraosseous Venous Malformation of the Rib With EWSR1-NFATC1 Fusion Mimicking Malignancy: A Pediatric Case Report.

primary intraosseous venous 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

Latest News & Developments

Primary intraosseous meningioma in a child: an unusual case report and literature review.

Intraosseous Venous Malformation of the Rib With EWSR1-NFATC1 Fusion Mimicking Malignancy: A Pediatric Case Report.