MCID: MTC008
MIFTS: 40

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 48 25 27 68
Isolated Coq-Cytochrome C Reductase Deficiency 25 54
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 54
Mitochondrial Respiratory Chain Complex Iii Deficiency 24
 
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 54
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 54
Complex 3 Mitochondrial Respiratory Chain Deficiency 48
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 25

Characteristics:

Orphanet epidemiological data:

54
isolated coq-cytochrome c reductase deficiency:
Inheritance: Autosomal recessive,Mitochondrial inheritance

Classifications:



External Ids:

Orphanet54 ORPHA1460
ICD10 via Orphanet31 G71.3

Summaries for Mitochondrial Complex Iii Deficiency

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NIH Rare Diseases:48 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 leigh syndrome and mitochondrial complex iii deficiency, nuclear type 1. 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 Cardiac muscle contraction. Affiliated tissues include liver, kidney and skeletal muscle, and related mouse phenotype Decreased shRNA abundance.

Genetics Home Reference:25 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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Diseases related to Mitochondrial Complex Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome31.8BCS1L, UQCRB
2mitochondrial complex iii deficiency, nuclear type 112.5
3mitochondrial complex iii deficiency, nuclear type 212.4
4mitochondrial complex iii deficiency, nuclear type 612.4
5mitochondrial complex iii deficiency, nuclear type 912.4
6mitochondrial complex iii deficiency, nuclear type 812.4
7mitochondrial complex iii deficiency, nuclear type 712.4
8mitochondrial complex iii deficiency, nuclear type 412.4
9mitochondrial complex iii deficiency, nuclear type 312.4
10mitochondrial complex iii deficiency, nuclear type 512.4
11mitochondrial respiratory chain complex iii deficiency, cyc1-related11.2
12mitochondrial respiratory chain complex iii deficiency, lyrm7-related11.2
13mitochondrial respiratory chain complex iii deficiency, uqcc2-related11.2
14mitochondrial respiratory chain complex iii deficiency, uqcc3-related11.2
15mitochondrial respiratory chain complex iii deficiency, bcs1l-related11.0
16mitochondrial respiratory chain complex iii deficiency, uqcrb-related11.0
17mitochondrial respiratory chain complex iii deficiency, uqcrq2 related11.0
18epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp10.0ATP5E, UQCRC2
19colon carcinoma in situ9.9CYC1, MT-CYB
20cerebellar ataxia9.7
21hypogonadism9.7
22hyperglycemia9.7
23myopathy9.7
24ataxia9.7
25myoclonus9.7
26bjornstad syndrome9.6ATP5E, BCS1L, TTC19, UQCRQ
27mn18.4ATP5E, BCS1L, CYC1, LYRM7, MT-CYB, TTC19

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



Diseases related to mitochondrial complex iii deficiency

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency

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GenomeRNAi Phenotypes related to Mitochondrial Complex Iii Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00251-A-28.9CYC1, UQCRB, UQCRC2, UQCRQ

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
1VitaminsPhase 35282
2UbiquinonePhase 3145
3Trace ElementsPhase 36001
4MicronutrientsPhase 36001
5
Coenzyme Q10experimental, NutraceuticalPhase 3121303-98-05281915
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 Deficiency27
2 Mitochondrial Respiratory Chain Complex Iii Deficiency24

Anatomical Context for Mitochondrial Complex Iii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

36
Liver, Kidney, Skeletal muscle, Heart, Brain

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
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. (25772319)
2015
4
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. (25914718)
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
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. (19389488)
2009
11
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. (19508421)
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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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
1integral component of mitochondrial inner membraneGO:003130510.1MT-CYB, UQCC3
2mitochondrial matrixGO:00057599.7ATP5E, LYRM7, UQCC2
3mitochondrial respiratory chain complex IIIGO:00057508.1BCS1L, CYC1, MT-CYB, UQCC3, UQCRB, UQCRC2
4respiratory chainGO:00704698.1CYC1, MT-CYB, UQCRB, UQCRC2, UQCRQ
5mitochondrionGO:00057396.7ATP5E, BCS1L, CYC1, MT-CYB, TTC19, UQCC2
6membraneGO:00160206.6ATP5E, BCS1L, CYC1, MT-CYB, TTC19, UQCC2
7mitochondrial inner membraneGO:00057436.6ATP5E, BCS1L, CYC1, MT-CYB, TTC19, UQCC2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:000906010.4UQCRB, UQCRC2
2mitochondrial ATP synthesis coupled proton transportGO:004277610.3ATP5E, CYC1
3ATP biosynthetic processGO:000675410.3ATP5E, UQCC3
4cristae formationGO:004240710.3ATP5E, UQCC3
5oxidative phosphorylationGO:000611910.2UQCRB, UQCRC2
6proton transportGO:00159929.4ATP5E, MT-CYB
7hydrogen ion transmembrane transportGO:19026009.4MT-CYB, UQCRB, UQCRQ
8response to glucagonGO:00337629.3CYC1, MT-CYB
9mitochondrial respiratory chain complex III assemblyGO:00345519.0BCS1L, TTC19, UQCC2, UQCC3, UQCRB
10oxidation-reduction processGO:00551148.6CYC1, MT-CYB, UQCRB, UQCRC2, UQCRQ
11mitochondrial electron transport, ubiquinol to cytochrome cGO:00061228.4CYC1, MT-CYB, UQCC3, UQCRB, UQCRC2, UQCRQ

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.6CYC1, MT-CYB
2ubiquinol-cytochrome-c reductase activityGO:00081218.7MT-CYB, UQCRB, UQCRQ

Sources for Mitochondrial Complex Iii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet