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PIK3CA overgrowth syndrome

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

Related

phosphatidylinositol 3 kinase catalytic subunit alpha (PIK3CA)

General

genetic syndrome (multisystem disorder) overgrowth syndrome; overgrowth malformation disorder

References

  1. 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: 29493003
  2. Wikipedia: P110a https://en.wikipedia.org/wiki/P110a