Details of Disease | DrugMAP

General Information of Disease (ID: DIS5D10S)

Disease Name	Cardiofaciocutaneous syndrome 4
Synonyms	CFC4; cardiofaciocutaneous syndrome type 4; MAP2K2 cardiofaciocutaneous syndrome; cardiofaciocutaneous syndrome 4; cardiofaciocutaneous syndrome caused by mutation in MAP2K2
Definition	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.
Disease Hierarchy	DISZJKSC: Cardiofaciocutaneous syndrome DIS5D10S: Cardiofaciocutaneous syndrome 4
Disease Identifiers	MONDO ID MONDO_0014114 UMLS CUI C3809007 OMIM ID 615280 MedGen ID 815337

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
MAP2K2	TT8H9GB	Strong	Biomarker	[1]
MAP2K2	TT8H9GB	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
MAP2K2	OTUE7Z91	Definitive	Autosomal dominant	[2]
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References

1	Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z.
2	Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations. Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342.