Details of Disease | DrugMAP

General Information of Disease (ID: DISI1EBK)

Disease Name	Mitochondrial complex III deficiency nuclear type 4
Synonyms	mitochondrial Complex 3 deficiency, nuclear type 4; MC3DN4; mitochondrial complex III deficiency, nuclear type 4; mitochondrial complex III deficiency caused by mutation in UQCRQ; UQCRQ mitochondrial complex III deficiency
Definition	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.
Disease Hierarchy	DISNWMK9: Mitochondrial complex III deficiency, nuclear type DISSUPJ6: Mitochondrial complex III deficiency DISI1EBK: Mitochondrial complex III deficiency nuclear type 4
Disease Identifiers	MONDO ID MONDO_0014065 UMLS CUI C3554607 OMIM ID 615159 MedGen ID 767521

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
UQCRQ	OTLQNJC7	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.