Details of Disease | DrugMAP

General Information of Disease (ID: DISB5I6G)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 17
Synonyms	MC4DN17; mitochondrial complex IV deficiency, nuclear type 17
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISB5I6G: Mitochondrial complex 4 deficiency, nuclear type 17
Disease Identifiers	MONDO ID MONDO_0033652 UMLS CUI C5436718 OMIM ID 619061 MedGen ID 1730423

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
COA8	OTOM9C4A	Strong	Autosomal recessive	[1]
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References

1	Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28.