Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Germline variants in PIK3CA are associated to a mild phenotype characterized by overgrowth, severe macrocephaly, mild intellectual disability, and few dysmorphic features. 31290289 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 Biomarker disease BEFREE Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K-AKT pathway. 31056854 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE However, some patients presenting mainly isolated megalencephaly or "Cowden-like" features have been described harboring constitutional mutations of PIK3CA. 31568861 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. 31639285 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 Biomarker disease BEFREE Alterations of the PI3K/Akt/mammalian target of rapamycin complex 1 (mTORC1) signaling pathway are causally involved in a subset of malformations of cortical development (MCDs) ranging from focal cortical dysplasia (FCD) to hemimegalencephaly and megalencephaly. 30687088 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia. 29883676 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 Biomarker disease BEFREE Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. 28086757 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 Biomarker disease BEFREE Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). 28969385 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. 26593112 2016
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE In the brain, the phenotypic spectrum of PIK3CA-related segmental overgrowth includes bilateral dysplastic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable pediatric epilepsy. 26633882 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. 24939587 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly-Capillary Malformation (MCAP or M-CM) and Dysplastic Megalencephaly (DMEG). 25557259 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa. 25722288 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. 24888723 2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE These observations suggest that cyclin D2 stabilization, caused by CCND2 mutation or PI3K-AKT activation, is a unifying mechanism in PI3K-AKT-related megalencephaly syndromes. 24705253 2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. 24782230 2014
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 GeneticVariation disease BEFREE De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.200 Biomarker disease HPO