Details of Disease | DrugMAP

General Information of Disease (ID: DIS5RVGK)

Disease Name	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Synonyms	CEMCOX2; cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2; mitochondrial complex IV deficiency, nuclear type 6; fatal infantile encephalocardiomyopathy caused by mutation in COX15; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; COX15 fatal infantile encephalocardiomyopathy
Definition	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.
Disease Hierarchy	DISOBOCR: Fatal infantile encephalocardiomyopathy DIS5RVGK: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Disease Identifiers	MONDO ID MONDO_0014051 UMLS CUI C3554534 OMIM ID 615119 MedGen ID 767448

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
COX15	OTUIYHIW	Strong	Autosomal recessive	[1]
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References

1	Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet. 2005 May;42(5):e28. doi: 10.1136/jmg.2004.029926.