×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
16439621 2006
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G ) in MAP2K1 , a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS ).
25423878 2015
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Noonan syndrome and clinically related disorders.
21396583 2011
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169 2009
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
17704260 2007
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
17567882 2007
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma.
23569304 2013
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
21871821 2012
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.
24409384 2013
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
22892241 2012
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
17551924 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS .
30414707 2019
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF , MAP2K1, MAP2K2, and KRAS.26842671 2016
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
We report the case of a 4-year-old girl who presented a CFC syndrome , confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency.
17703371 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
UNIPROT
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
18042262 2008
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC .
17567882 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
Biomarker
MGD
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GermlineCausalMutation
ORPHANET
The cardiofaciocutaneous syndrome.
16825433 2006
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
The RASopathies.
23875798 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
BEFREE
Mutations in KRAS, BRAF, and MAP2K1 /2 (MEK1 /2) have been identified in patients with CFC syndrome .
20523244 2011
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Here, we describe the laboratory protocols and methods that we used to identify mutations in BRAF and MEK1 /2 genes as causative for CFC syndrome .
20812000 2010
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
Neurological complications of cardio-facio-cutaneous syndrome.
18039235 2007
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Tegumentary manifestations of Noonan and Noonan-related syndromes.
24037001 2013
×
Entrez Id: 673
Gene Symbol: BRAF
BRAF
Cardio-facio-cutaneous syndrome
1.000
AlteredExpression
BEFREE
Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF , MEK1, or MEK2.
20358587 2010