Details of Disease

General Information of Disease (ID: DIS1TZIR)

Disease Name Cardiofaciocutaneous syndrome 3
Synonyms CFC3; cardiofaciocutaneous syndrome type 3; cardiofaciocutaneous syndrome 3; cardiofaciocutaneous syndrome caused by mutation in MAP2K1; MAP2K1 cardiofaciocutaneous syndrome
Definition Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.
Disease Hierarchy
DISZJKSC: Cardiofaciocutaneous syndrome
DIS1TZIR: Cardiofaciocutaneous syndrome 3
Disease Identifiers
MONDO ID
MONDO_0014113
UMLS CUI
C3809006
OMIM ID
615279
MedGen ID
815336

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MAP2K1 TTIDAPM Strong Biomarker [1]
MAP2K1 TTIDAPM Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAP2K1 OT4Y9NQI Definitive Autosomal dominant [2]
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References

1 Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Am J Med Genet A. 2017 Feb;173(2):452-459. doi: 10.1002/ajmg.a.38044. Epub 2016 Nov 14.
2 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science.1124642. Epub 2006 Jan 26.