|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
|
31729162 |
2020 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
BEFREE |
The first involved treatment using Dichlorodimethylsilane MCM 41(TD) and later treatment of a pure sample with sulfuric acid MCM-41.
|
31850301 |
2019 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
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 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
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 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
GeneticVariation
|
disease |
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 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
GeneticVariation
|
disease |
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 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
|
27030595 |
2016 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
|
24939587 |
2015 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
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 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
SomaticCausalMutation
|
disease |
ORPHANET |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
|
22729223 |
2012 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
|
22729224 |
2012 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
Biomarker
|
disease |
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 |
|
Megalencephaly cutis marmorata telangiectatica congenita
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|