Details of Disease | DrugMAP

General Information of Disease (ID: DISLEHQO)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 3
Synonyms	MC4DN3; mitochondrial complex IV deficiency, nuclear type 3
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISLEHQO: Mitochondrial complex 4 deficiency, nuclear type 3
Disease Identifiers	MONDO ID MONDO_0033635 UMLS CUI C5436682 OMIM ID 619046 MedGen ID 1764816

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
COX10	OTCYIS0L	Strong	Autosomal recessive	[1]
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References

1	A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. Hum Mol Genet. 2000 May 1;9(8):1245-9. doi: 10.1093/hmg/9.8.1245.