MCID: MTC008
MIFTS: 39

Mitochondrial Complex Iii Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

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Aliases & Descriptions for Mitochondrial Complex Iii Deficiency:

Name: Mitochondrial Complex Iii Deficiency 46 24 25 66
Isolated Coq-Cytochrome C Reductase Deficiency 24 52
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 52
Mitochondrial Respiratory Chain Complex Iii Deficiency 23
 
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 52
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 52
Complex 3 Mitochondrial Respiratory Chain Deficiency 46
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 24

Characteristics:

Orphanet epidemiological data:

52
isolated coq-cytochrome c reductase deficiency:
Inheritance: Autosomal recessive,Mitochondrial inheritance

Classifications:



External Ids:

Orphanet52 ORPHA1460
ICD10 via Orphanet29 G71.3

Summaries for Mitochondrial Complex Iii Deficiency

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NIH Rare Diseases:46 Mitochondrial complex iii deficiency is one of several conditions caused by dysfunction of mitochondria, which are specialized compartments in cells that generate more than 90% of the energy required by the body. it is a severe, multisystem disorder that includes features such as lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. involvement of internal organs, including liver disease and renal tubulopathy, may also occur. symptoms typically begin at birth. many affected individuals die in early childhood, but some have survived longer. it is generally caused by mutations in nuclear dna in the bcs1l, uqcrb and uqcrq genes and inherited in an autosomal recessive manner. however, it may also be caused by mutations in mitochondrial dna in the mtcyb gene, which is passed down maternally or occurs sporadically and may result in a milder form of the condition. treatment generally focuses on alleviating symptoms and/or slowing down the progression of the disease, and effectiveness can vary among individuals. last updated: 4/4/2011

MalaCards based summary: Mitochondrial Complex Iii Deficiency, also known as isolated coq-cytochrome c reductase deficiency, is related to mitochondrial complex iii deficiency, nuclear type 1 and mitochondrial complex iii deficiency, nuclear type 2. An important gene associated with Mitochondrial Complex Iii Deficiency is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways are Mitochondrial protein import and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, kidney and skeletal muscle.

Genetics Home Reference:24 Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.

Related Diseases for Mitochondrial Complex Iii Deficiency

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Graphical network of the top 20 diseases related to Mitochondrial Complex Iii Deficiency:



Diseases related to mitochondrial complex iii deficiency

Symptoms for Mitochondrial Complex Iii Deficiency

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Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency

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Drugs for Mitochondrial Complex Iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1UbiquinonePhase 3132
2
Coenzyme Q10NutraceuticalPhase 3108303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q-10
Coenzyme Q10
Ensorb
Kaneka Q10
 
Kudesan
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Trial of Coenzyme Q10 in Mitochondrial DiseaseCompletedNCT00432744Phase 3
2North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Complex Iii Deficiency

Genetic Tests for Mitochondrial Complex Iii Deficiency

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Genetic tests related to Mitochondrial Complex Iii Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency25
2 Mitochondrial Respiratory Chain Complex Iii Deficiency23

Anatomical Context for Mitochondrial Complex Iii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

34
Liver, Kidney, Skeletal muscle, Heart, Brain

Animal Models for Mitochondrial Complex Iii Deficiency or affiliated genes

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Publications for Mitochondrial Complex Iii Deficiency

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Articles related to Mitochondrial Complex Iii Deficiency:

(show all 14)
idTitleAuthorsYear
1
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. (27074787)
2016
2
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. (25899669)
2015
3
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. (25914718)
2015
4
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. (25772319)
2015
5
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. (25239759)
2014
6
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (23281071)
2013
7
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. (23329552)
2012
8
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (21278747)
2011
9
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. (20472482)
2010
10
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. (19508421)
2009
11
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. (19389488)
2009
12
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (18439546)
2008
13
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. (17932705)
2007
14
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. (7798118)
1995

Variations for Mitochondrial Complex Iii Deficiency

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Clinvar genetic disease variations for Mitochondrial Complex Iii Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BCS1LNM_004328.4(BCS1L): c.166C> T (p.Arg56Ter)single nucleotide variantPathogenicrs121908576GRCh37Chr 2, 219525876: 219525876
2BCS1LNM_004328.4(BCS1L): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121908578GRCh37Chr 2, 219526571: 219526571

Expression for genes affiliated with Mitochondrial Complex Iii Deficiency

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Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency.

Pathways for genes affiliated with Mitochondrial Complex Iii Deficiency

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GO Terms for genes affiliated with Mitochondrial Complex Iii Deficiency

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Cellular components related to Mitochondrial Complex Iii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory chainGO:007046910.0CYC1, UQCRQ
2mitochondrial respiratory chain complex IIIGO:00057508.9BCS1L, MT-CYB, UQCC3, UQCRB, UQCRC2
3mitochondrionGO:00057397.1BCS1L, CYC1, MT-CYB, TTC19, UQCC2, UQCRC2
4mitochondrial inner membraneGO:00057436.7CYC1, MT-CYB, TTC19, UQCC2, UQCRB, UQCRC2

Biological processes related to Mitochondrial Complex Iii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidative phosphorylationGO:00061199.9UQCRB, UQCRC2
2aerobic respirationGO:00090609.8UQCRB, UQCRC2
3response to glucagonGO:00337629.2CYC1, MT-CYB
4hydrogen ion transmembrane transportGO:19026008.8MT-CYB, UQCRB, UQCRQ
5mitochondrial respiratory chain complex III assemblyGO:00345518.3BCS1L, TTC19, UQCC2, UQCC3, UQCRB
6mitochondrial electron transport, ubiquinol to cytochrome cGO:00061227.7CYC1, MT-CYB, UQCC3, UQCRB, UQCRC2, UQCRQ

Molecular functions related to Mitochondrial Complex Iii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ubiquinol-cytochrome-c reductase activityGO:00081218.8MT-CYB, UQCRB, UQCRQ

Sources for Mitochondrial Complex Iii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet