Details of Disease | DrugMAP

General Information of Disease (ID: DISSM0B0)

Disease Name	Primary intraosseous venous malformation
Synonyms	vascular malformation osseous; hemangioma, intraosseous; vascular malformation, primary intraosseous; osseous venous malformation; intraosseous hemangioma
Definition	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.
Disease Hierarchy	DIS6TO5M: Infantile hemangioma of rare localization DISYKSRF: Genetic disease DISSM0B0: Primary intraosseous venous malformation
Disease Identifiers	MONDO ID MONDO_0011744 MESH ID C564648 UMLS CUI C1847197 OMIM ID 606893 MedGen ID 376071 Orphanet ID 140436 SNOMED CT ID 764100007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELMO2	OTKDOC2M	Strong	Autosomal recessive	[1]
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References

1	Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. Am J Hum Genet. 2016 Aug 4;99(2):299-317. doi: 10.1016/j.ajhg.2016.06.008. Epub 2016 Jul 28.