PIK3CA-related overgrowth spectrum
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:causedBy |
PIK3CA gene mutation
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:hasOrphanetID |
ORPHA:565612
|
| https://www.w3.org/2000/01/rdf-schema#label |
PIK3CA-related overgrowth spectrum
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
602501
|
| gptkbp:onset |
congenital
|
| gptkbp:pathology |
PI3K-AKT-mTOR pathway activation
|
| gptkbp:prevalence |
rare
|
| gptkbp:regulates |
gptkb:PIK3CA
|
| gptkbp:subspecies |
CLOVES syndrome
Fibroadipose hyperplasia Hemimegalencephaly Megalencephaly-capillary malformation syndrome |
| gptkbp:symptom |
skeletal abnormalities
vascular malformations cutaneous lesions asymmetric overgrowth lipomatous overgrowth |
| gptkbp:treatment |
gptkb:alpelisib
gptkb:sirolimus surgical intervention |
| gptkbp:bfsParent |
gptkb:PIK3CA_(p110α)
|
| gptkbp:bfsLayer |
6
|