Details of Disease | DrugMAP

General Information of Disease (ID: DISV4HQA)

Disease Name	Cardiofaciocutaneous syndrome 1
Synonyms	Cfcs; CFC1; CFC syndrome; cardiofaciocutaneous syndrome; cardiofaciocutaneous syndrome caused by mutation in BRAF; BRAF cardiofaciocutaneous syndrome; cardiofaciocutaneous syndrome 1; cardiofaciocutaneous syndrome type 1
Definition	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
Disease Hierarchy	DISZJKSC: Cardiofaciocutaneous syndrome DISV4HQA: Cardiofaciocutaneous syndrome 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRAF	TT0EOB8	Definitive	Autosomal dominant	[1]
KRAS	TTRHMTC	Definitive	Autosomal dominant	[2]
MAP2K1	TTIDAPM	Definitive	Autosomal dominant	[2]
MAP2K2	TT8H9GB	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRAF	OT7S81XQ	Definitive	Autosomal dominant	[1]
KRAS	OT78QCN8	Definitive	Autosomal dominant	[2]
MAP2K1	OT4Y9NQI	Definitive	Autosomal dominant	[2]
MAP2K2	OTUE7Z91	Definitive	Autosomal dominant	[2]
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References

1	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.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.