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primary intraosseous venous malformation

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description 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.
Uniprot Description A rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0011744:  primary intraosseous venous malformation
MESH:C564648: 
Orphanet:140436: 
SCTID:764100007: 
UMLS:C1847197: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found