Details of Disease | DrugMAP

General Information of Disease (ID: DISP2EUO)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 8
Synonyms	mitochondrial complex IV deficiency, nuclear type 8; MC4DN8
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISP2EUO: Mitochondrial complex 4 deficiency, nuclear type 8
Disease Identifiers	MONDO ID MONDO_0033638 UMLS CUI C5436689 OMIM ID 619052 MedGen ID 1765544

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
TACO1	OTK1WUBL	Strong	Autosomal recessive	[1]
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References

1	Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet. 2009 Jul;41(7):833-7. doi: 10.1038/ng.390. Epub 2009 Jun 7.