ORPHA:530313
PIK3CA-related overgrowth spectrum disorder
Synonyms: PROS · PIK3CA-related overgrowth syndrome
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PIK3CA-related overgrowth spectrum disorder | PROS · PIK3CA-related overgrowth syndrome |
| fr | Syndrome d'hypercroissance associé à une mutation de PIK3CA | |
| de | PIK3CA-assoziiertes Großwuchs-Syndrom | PIK3CA-assoziiertes Überwuchsspektrum · PROS · PIK3CA-assoziiertes Großwuchs-Syndrom |
| es | Trastorno del espectro del sobrecrecimiento asociado al gen PIK3CA | PROS · Síndrome de sobrecrecimiento asociado al gen PIK3CA |
| it | Malattia dello spettro dell'iperaccrescimento correlata a PIK3CA | Sindrome da iperaccrescimento correlato a PIK3CA · PROS |
| nl | PIK3CA-gerelateerde overgroei-spectrumstoornis | PIK3CA-gerelateerd overgroeisyndroom · PROS |
| pt | Síndrome de sobrecrescimento PIK3CA-relacionado | |
| pl | Zespół nadmiernego wzrostu związany z PIK3CA | = en |
| cs | PIK3CA-vázaný syndrom s nadměrným vzrůstem | PROS |
| uk | Синдром надмірного росту, повязаний з PIK3CA | PROS |
| zh | PIK3CA基因相关生长过度综合征 | PROS |
| tr | PIK3CA-ilişkili aşırı büyüme sendromu | PROS |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C4728213 | E | validated | |
| MedDRA | 10081236 | 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 (1):
- ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (9):
- ORPHA:168984CLAPO syndrome
- ORPHA:140944CLOVES syndrome
- ORPHA:583097Congenital infiltrating lipomatosis of the face
- ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:99802Hemimegalencephaly
- ORPHA:295239Macrodactyly of fingers, unilateral
- ORPHA:295243Macrodactyly of toes, unilateral
- ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndrome
- ORPHA:314662Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/530313
- This record as JSON: /data/d/530313.json