Details of Disease | DrugMAP

General Information of Disease (ID: DIS7DHVL)

Disease Name	Mitochondrial complex III deficiency nuclear type 6
Synonyms	mitochondrial Complex 3 deficiency, nuclear type 6; MC3DN6; mitochondrial complex III deficiency, nuclear type 6; CYC1 mitochondrial complex III deficiency; mitochondrial complex III deficiency caused by mutation in CYC1
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DIS7DHVL: Mitochondrial complex III deficiency nuclear type 6
Disease Identifiers	MONDO ID MONDO_0014194 UMLS CUI C3809553 OMIM ID 615453 MedGen ID 815883

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
CYC1	OT0962IM	Definitive	Autosomal recessive	[1]
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References

1	Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1.