Details of Disease | DrugMAP

General Information of Disease (ID: DISSUPJ6)

Disease Name	Mitochondrial complex III deficiency
Synonyms	isolated complex III deficiency; isolated coenzyme Q-cytochrome C reductase deficiency; isolated CoQ-cytochrome C reductase deficiency; isolated ubiquinone-cytochrome C reductase deficiency; isolated mitochondrial respiratory chain complex III deficiency
Definition	Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Disease Hierarchy	DISCJSA1: Mitochondrial complex deficiency DISWD40R: Disease DISSUPJ6: Mitochondrial complex III deficiency
Disease Identifiers	MONDO ID MONDO_0015448 MESH ID C565128 UMLS CUI C1852372 MedGen ID 377658 Orphanet ID 1460 SNOMED CT ID 709414007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UQCC2	OTA1KTRN	Supportive	Autosomal recessive	[1]
UQCC3	OTU37021	Supportive	Autosomal recessive	[2]
UQCRB	OTNF9YWD	Supportive	Autosomal recessive	[3]
UQCRC2	OTSNY9H4	Supportive	Autosomal recessive	[4]
UQCRFS1	OTA2AXFN	Supportive	Autosomal recessive	[5]
UQCRQ	OTLQNJC7	Supportive	Autosomal recessive	[6]
BCS1L	OT5PY5CY	Supportive	Autosomal recessive	[7]
CYC1	OT0962IM	Supportive	Autosomal recessive	[8]
LYRM7	OT9O7UZE	Supportive	Autosomal recessive	[9]
TTC19	OTQ0QH1P	Supportive	Autosomal recessive	[10]
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⏷ Show the Full List of 10 DOT(s)

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.
2	A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9.
3	A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet. 2003 Jul;113(2):118-22. doi: 10.1007/s00439-003-0946-0. Epub 2003 Apr 23.
4	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.
5	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.
6	Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet. 2008 May;82(5):1211-6. doi: 10.1016/j.ajhg.2008.03.020. Epub 2008 Apr 24.
7	Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2.
8	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.
9	A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23.
10	Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet. 2011 Mar;43(3):259-63. doi: 10.1038/ng.761. Epub 2011 Jan 30.