Details of Disease | DrugMAP

General Information of Disease (ID: DISXJWBI)

Disease Name	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Synonyms	CEMCOX4; cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4; COA6 fatal infantile encephalocardiomyopathy; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4; fatal infantile encephalocardiomyopathy caused by mutation in COA6; mitochondrial complex IV deficiency, nuclear type 13
Definition	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.
Disease Hierarchy	DISOBOCR: Fatal infantile encephalocardiomyopathy DISXJWBI: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Disease Identifiers	MONDO ID MONDO_0014668 UMLS CUI C4225304 OMIM ID 616501 MedGen ID 905398

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COA6	OTT52V2I	Strong	Unknown	[1]
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References

1	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.