Familial intraosseous vascular malformation
Synonyms: Hereditary intraosseous vascular malformation · VMOS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial intraosseous vascular malformation | Hereditary intraosseous vascular malformation · VMOS |
| fr | Malformation veineuse osseuse familiale | Malformation veneuse héréditaire · VMOS |
| de | Familiäre intraossäre vaskuläre Fehlbildung | Familiäre intraossäre vaskuläre Malformation · VMOS · Hereditäre intraossäre Gefäßfehlbildung |
| es | Malformación venosa intraósea primaria | Malformación vascular intraósea hereditaria |
| it | Malformazione vascolare intraossea familiare | Malformazione vascolare intraossea ereditaria |
| nl | Familiale intraossale vasculaire malformatie | Erfelijke intraossale vaatmalformatie · Hereditaire intraossale vasculaire malformatie · VMOS |
| pt | Malformação vascular intraóssea familiar | VMOS · Malformação vascular intraóssea hereditária |
| pl | Rodzinna wewnątrzkostna malformacja naczyniowa | Malformacja naczyniowa kości · Naczyniak wewnątrzkostny |
| cs | Primární intraoseální vaskulární malformace | Intraoseální hemangiom · Kostní vaskulární malformace |
| uk | Первинна внутрішньокісткова венозна мальформація | Внутрішньокісткова гемангіома · Кісткова венозна мальформація |
| zh | 原发性骨内静脉畸形 | 骨性静脉畸形 |
| tr | Primer intraosseöz venöz malformasyon | İntraosseöz hemanjiyom · Osseöz venöz malformasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606893 | E | validated | |
| ICD-10 | D18.0 | NTBT | attributed | validated |
| MONDO | 0011744 | E | validated | |
| MeSH | C564648 | E | validated | |
| UMLS | C1847197 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:235832Congenital vascular bone syndrome
rare genetic diseases; rare bone diseases - ORPHA:715339Multifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELMO2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17233 | ENSG00000062598 | 606421 | 20q13.12 | engulfment and cell motility 2 | 27476657[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140436
- This record as JSON: /data/d/140436.json