Details of Disease | DrugMAP

General Information of Disease (ID: DISD6MPH)

Disease Name	Mitochondrial complex III deficiency nuclear type 5
Synonyms	mitochondrial Complex 3 deficiency, nuclear type 5; MC3DN5; mitochondrial complex III deficiency, nuclear type 5; UQCRC2 mitochondrial complex III deficiency; mitochondrial complex III deficiency caused by mutation in UQCRC2
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DISD6MPH: Mitochondrial complex III deficiency nuclear type 5
Disease Identifiers	MONDO ID MONDO_0014066 UMLS CUI C3554608 OMIM ID 615160 MedGen ID 767522

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
UQCRC2	OTSNY9H4	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat. 2013 Mar;34(3):446-52. doi: 10.1002/humu.22257. Epub 2013 Jan 29.