|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
CFC syndrome mutations in BRAF promote both kinase-activating and kinase-impaired variants.
|
19376813 |
2009 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
CFC syndrome mutations in BRAF promote both kinase-activating and kinase-impaired variants.
|
19376813 |
2009 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous Syndrome (CFCS) is a rare genetic syndrome caused by mutations in one of four genes: BRAF, MAP2K1, MAP2K2, and KRAS.
|
26842671 |
2016 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS.
|
31125963 |
2019 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BRAF mutations are involved in more than 80% of CFC syndrome patients, and we have reported earlier that 2 CFC patients with BRAF mutations developed acute lymphoblastic leukemia.
|
20523244 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
B-Raf+/LSLV600E mice are viable and display several of the characteristic features observed in CFC patients, including reduced life span, small size, facial dysmorphism, cardiomegaly, and epileptic seizures.
|
21383153 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures.
|
31217210 |
2019 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A cardio-facio-cutaneous syndrome case with tight Achilles tendons.
|
22876591 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months.
|
20395089 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
|
23093928 |
2012 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although this mutation is one of the most common mutations in CFC, to our knowledge, this is the first molecularly confirmed BRAF mutation causing CFC in siblings.
|
29704308 |
2018 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Approximately 75% of individuals with CFC have mutations in BRAF.
|
18413255 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three patients with activating BRAF mutations.
|
27569062 |
2016 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
AlteredExpression
|
disease |
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 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Cardio-facio-cutaneous (CFC) syndrome is a developmental disorder caused by constitutively active ERK signaling manifesting mainly from BRAF mutations.
|
25639853 |
2015 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
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 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
|
20395089 |
2011 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical review of known individuals with MEK1/MEK2 mutations suggests that these patients show dysmorphic features, ectodermal abnormalities and cognitive deficit similar to what was observed in BRAF-mutated patients and in the general CFCS population.
|
19156172 |
2009 |
|
Cardio-facio-cutaneous syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.
|
22301711 |
2012 |