Details of Disease | DrugMAP

General Information of Disease (ID: DISYL0HV)

Disease Name	Mitochondrial complex III deficiency nuclear type 3
Synonyms	MC3DN3; mitochondrial Complex 3 deficiency, nuclear type 3; mitochondrial complex III deficiency, nuclear type 3; mitochondrial complex III deficiency caused by mutation in UQCRB; UQCRB mitochondrial complex III deficiency
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DISYL0HV: Mitochondrial complex III deficiency nuclear type 3
Disease Identifiers	MONDO ID MONDO_0014064 UMLS CUI C3554606 OMIM ID 615158 MedGen ID 767520

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
UQCRB	OTNF9YWD	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.