PIK3CA overgrowth syndrome
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Pathology
- brain disorder
- macrocephaly-capillary malformation (MCAP syndrome)
- hemimegalencephaly
- vascular disorder
- congenital, lipomatous overgrowth of vascular malformations epidermal nevi & skeletal/spinal anomalies (CLOVES syndrome)
- fibroadipose hyperplasia
Genetics
- extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation
More general terms
Additional terms
References
- ↑ Denorme P, Morren MA, Hollants S et al Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report. Pediatr Dermatol. 2018 May;35(3):e186-e188. PMID: https://www.ncbi.nlm.nih.gov/pubmed/29493003
- ↑ Wikipedia: P110a https://en.wikipedia.org/wiki/P110a