ORPHA:714785
Unifocal sporadic venous malformation
Synonyms: Unifocal sporadic VM
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unifocal sporadic venous malformation | Unifocal sporadic VM |
| fr | Malformation veineuse unifocale sporadique | MV unifocale sporadique |
| de | Unifokale sporadische venöse Fehlbildung | Unifokale sporadische VM · Unifokale sporadische venöse Malformation |
| es | Malformación venosa esporádica unifocal | MAV esporádica unifocal |
| it | Malformazione venosa sporadica monofocale | MV sporadica monofocale |
| nl | Unifocale sporadische veneuze malformatie | Unifocale sporadische VM |
| pt | Unifocal sporadic venous malformation | |
| pl | Jednoogniskowa sporadyczna malformacja żylna | = en |
| cs | Unifocal sporadic venous malformation | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q27.3 | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:715334Unifocal peripheral venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 26637981[PMID] |
| TEK | Disease-causing somatic mutation(s) in | Assessed | HGNC:11724 | ENSG00000120156 | 600221 | 9p21.2 | TEK receptor tyrosine kinase | 26637981[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 / 100 000 | Worldwide | Value and class | 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.
6
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/714785
- This record as JSON: /data/d/714785.json