ORPHA:2451
Mucocutaneous venous malformations
Synonyms: Cutaneous and mucosal venous malformation · VMCM
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare hereditary vascular malformation characterized by the presence of small, multifocal, venous lesions involving the skin and mucosa.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucocutaneous venous malformations | Cutaneous and mucosal venous malformation · VMCM |
| fr | Malformation veineuse cutanéomuqueuse multiple | MVCM · Malformation veineuse cutanée et muqueuse |
| de | Fehlbildung, mukokutane venöse | Markel-Vikkula-Mulliken-Syndrom · VMCM · Venöse Malformationen, kutane und muköse |
| es | Malformaciones venosas mucocutáneas | |
| it | Malformazioni venose mucocutanee | Malformazione venosa cutanea e delle mucose · VMCM |
| nl | Mucocutane veneuze malformaties | Cutane en mucosale veneuze malformaties · VMCM · Veneuze malformaties van huid en slijmvlies |
| pt | Malformações venosas mucocutâneas | Malformações venosas cutâneas e mucosas · VMCM |
| pl | Malformacje żylne błony śluzowej i skóry | Malformacje żylne błony śluzowej i skóry · VMCM |
| cs | Mukokutánní venózní malformace | VMCM · Kožní a slizniční venózní malformace |
| uk | Слизово-шкірні венозні мальформації | Шкірні та слизові венозні мальформації · VMCM |
| zh | 黏膜和皮肤静脉畸形 | 皮肤黏膜静脉畸形 |
| tr | Mukokutanöz venöz malformasyonlar | VMCM · Kutanöz ve mukozal venöz malformasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600195 | E | validated | |
| ICD-10 | Q27.8 | NTBT | attributed | validated |
| ICD-11 | LC51 | NTBT | index | validated |
| MONDO | 0010842 | E | validated | |
| MeSH | C563977 | E | validated | |
| UMLS | C1838437 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:715339Multifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:459548Rare genetic venous malformation
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TEK | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:11724 | ENSG00000120156 | 600221 | 9p21.2 | TEK receptor tyrosine kinase | 20301733[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Cases/families | 18 families | Worldwide | Family(ies) | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2451
- This record as JSON: /data/d/2451.json