Clinical Characteristics

Clinical features depend predominantly on the type, level of mosaicism and tissue distribution of the PIK3CA mutation. Features can include:

  • Overgrowth (due to increased cell size or number; features largely depend on tissues/organs involved)
  • Dysplasia (particularly of the brain, causing epilepsy)
  • Vascular or lymphatic malformations
  • Neurological issues (epilepsy, hypotonia, intellectual disability)

Individuals with PIK3CA mutations are also known to be at risk for the following medical issues:

  • Hypoglycemia
  • Growth hormone deficiency
  • Thrombosis
  • Neurosurgical issues: e.g. hydrocephalus and cerebellar tonsillar ectopia