Details of Disease | DrugMAP

General Information of Disease (ID: DIS90707)

Disease Name	Mitochondrial complex III deficiency nuclear type 7
Synonyms	mitochondrial complex III deficiency, nuclear type 7; MC3DN7; mitochondrial Complex 3 deficiency, nuclear type 7; UQCC2 mitochondrial complex III deficiency; mitochondrial complex III deficiency caused by mutation in UQCC2
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DIS90707: Mitochondrial complex III deficiency nuclear type 7
Disease Identifiers	MONDO ID MONDO_0014356 UMLS CUI C4014408 OMIM ID 615824 MedGen ID 862845

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
UQCC2	OTA1KTRN	Limited	Unknown	[1]
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References

1	Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26.