KEGG   VARIANT: 5290v3
Entry
5290v3                      Variant                                
Name
PIK3CA mutation
Type
Gain of function
Gene
PIK3CA  phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [KO:K00922]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 171834
Network
nt06530  PI3K signaling
Disease
H00534  Cerebral cavernous malformation
H01222  Cowden syndrome
H01912  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
H02153  Megalencephaly-capillary malformation syndrome
H02297  CLAPO syndrome
H02627  Epidermal nevus
H02647  Macrodactyly
Reference
PMID:34238334
  Authors
Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM
  Title
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.
  Journal
Orphanet J Rare Dis 16:306 (2021)
DOI:10.1186/s13023-021-01929-8
Reference
PMID:27860216
  Authors
Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA
  Title
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
  Journal
Am J Med Genet C Semin Med Genet 172:402-421 (2016)
DOI:10.1002/ajmg.c.31531
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