×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
CLINVAR
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
GENOMICS_ENGLAND
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.
19011570
2009
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
GENOMICS_ENGLAND
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
22729223
2012
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
GENOMICS_ENGLAND
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
Megalencephaly cutis marmorata telangiectatica congenita
0.770
SomaticCausalMutation
ORPHANET
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
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
UNIPROT
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
Megalencephaly cutis marmorata telangiectatica congenita
0.770
CausalMutation
CLINVAR
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
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
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
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
BEFREE
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
24939587
2015
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
UNIPROT
"Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
26593112
2016
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
GENOMICS_ENGLAND
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
27030595
2016
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
BEFREE
Cell samples (i.e., primary fibroblasts) were derived from cultured tissues obtained from six PROS patients [3 boys, 3 girls; aged 2 to 17 years] whose spectrum of PIK3A-related overgrowth included HHML [hemihyperplasia multiple lipomatosis; n = 1], CLOVES [congenital lipomatosis, overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, scoliosis; n = 1], and MCAP [megalencephaly capillary malformation syndrome ; n = 4].
29549527
2018
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
BEFREE
We underline the importance of the genotype-phenotype correlation in the diagnostic process of overgrowth syndromes and emphasize the strict correlation between the mutation c.2740G > A in the PIK3CA gene and the Megalencephaly-Capillary Malformation syndrome phenotype.
30231930
2018
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
BEFREE
Recently, the O'Donnell laboratory has been better able to map the interactions of Mcm10 with a larger Cdc45/GINS/MCM (CMG ) unwinding complex placing it at the front of the replication fork.
31014174
2019
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
GeneticVariation
BEFREE
Growth hormone deficiency in megalencephaly-capillary malformation syndrome : An association with activating mutations in PIK3CA .
31729162
2020
×
Entrez Id:
5290
Gene Symbol:
PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770
Biomarker
BEFREE
The first involved treatment using Dichlorodimethylsilane MCM 41(TD ) and later treatment of a pure sample with sulfuric acid MCM -41.
31850301
2019