OnlineIMD

PIK3CA-related overgrowth syndrome

  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • PIK3CA / Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
      • 3q26.32
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
  • Disease group(s)
    • 14.5.2    Disorders of phosphatidylinositol metabolism
  • Child entries
    • CLAPO syndrome
    • CLOVES syndrome
    • Hemihyperplasia-multiple lipomatosis syndrome
    • PIK3CA-related Klippel-Trénaunay syndrome
    • PIK3CA-related megalencephaly-capillary malformation syndrome
    • Segmental progressive overgrowth syndrome with fibroadipose hyperplasia