ORPHA:728584
PIK3CA-related overgrowth spectrum disorder with vascular malformation
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PIK3CA-related overgrowth spectrum disorder with vascular malformation | |
| fr | Syndrome d'hypercroissance associé à PIK3CA avec malformation vasculaire | |
| de | PIK3CA-assoziiertes Großwuchs-Syndrom mit Gefäßfehlbildung | PROS mit assoziierter Gefäßmalformation · PIK3CA-assoziiertes Überwuchsspektrum mit Gefäßfehlbildung |
| es | Trastorno del espectro de sobrecrecimiento asociado al gen PIK3CA con malformación vascular | |
| it | Malattia dello spettro della crescita eccessiva correlata a PIK3CA con malformazione vascolare | |
| nl | PIK3CA-gerelateerde overgroei-spectrumstoornis met vaatmalformatie | |
| pt | PIK3CA-related overgrowth spectrum disorder with vascular malformations | |
| pl | PIK3CA-related overgrowth spectrum disorder with vascular malformation | |
| cs | PIK3CA-related overgrowth spectrum disorder with vascular malformation |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:211277Syndromic combined vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
Children (6):
- ORPHA:168984CLAPO syndrome
- ORPHA:140944CLOVES syndrome
- ORPHA:90308Capillary-lymphatic-venous malformation with segmental distribution
- ORPHA:714737Diffuse capillary malformation with overgrowth
- ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/728584
- This record as JSON: /data/d/728584.json