Details of Disease

General Information of Disease (ID: DISJMMVB)

Disease Name Cardiofaciocutaneous syndrome 2
Synonyms
CFC2; cardiofaciocutaneous syndrome caused by mutation in KRAS; kras cardiofaciocutaneous syndrome; cardiofaciocutaneous syndrome type 2; cardiofaciocutaneous syndrome caused by mutation in kras; KRAS cardiofaciocutaneous syndrome; cardiofaciocutaneous syndrome 2
Definition Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.
Disease Hierarchy
DISZJKSC: Cardiofaciocutaneous syndrome
DISJMMVB: Cardiofaciocutaneous syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014112
UMLS CUI
C3809005
OMIM ID
615278
MedGen ID
815335

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
KRAS TTM8FR7 Strong CausalMutation [1]
KRAS TTRHMTC 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
KRAS OT78QCN8 Definitive Autosomal dominant [2]
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References

1 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.Mol Syst Biol. 2014 May 6;10(5):727. doi: 10.1002/msb.20145092.
2 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.