MCID: MTC008
MIFTS: 44

Mitochondrial Complex Iii Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Mitochondrial Complex Iii Deficiency

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NIH Rare Diseases:43 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 (BC1 (ubiquinol-cytochrome c reductase) synthesis-like), and among its related pathways are Mitochondrial Protein Import and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds ubiquinol and myxothiazol have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart.

Genetics Home Reference:23 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.

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

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Mitochondrial Complex Iii Deficiency, Aliases & Descriptions:

Name: Mitochondrial Complex Iii Deficiency 43 23 24 62
Isolated Coq-Cytochrome C Reductase Deficiency 43 23 49
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 43 49
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 43 49
 
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 43 49
Complex 3 Mitochondrial Respiratory Chain Deficiency 43 22
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
isolated coq-cytochrome c reductase deficiency:
Inheritance: Autosomal recessive,Mitochondrial inheritance


External Ids:

Orphanet49 1460
ICD10 via Orphanet28 G71.3

Related Diseases for Mitochondrial Complex Iii Deficiency

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Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Complex Iii Deficiency

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 Respiratory Chain Complex Iii Deficiency22
2 Mitochondrial Complex Iii Deficiency24

Anatomical Context for Mitochondrial Complex Iii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

33
Liver, Brain, Heart, Skeletal muscle, Kidney

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 12)
idTitleAuthorsYear
1
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. (25772319)
2015
2
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. (25899669)
2015
3
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. (25239759)
2014
4
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (23281071)
2013
5
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. (23329552)
2012
6
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (21278747)
2011
7
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. (20472482)
2010
8
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. (19508421)
2009
9
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. (19389488)
2009
10
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (18439546)
2008
11
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. (17932705)
2007
12
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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Compounds for genes affiliated with Mitochondrial Complex Iii Deficiency

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Sources:
45Novoseek, 13DrugBank, 26HMDB
See all sources

Compounds related to Mitochondrial Complex Iii Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ubiquinol459.4CYC1, MT-CYB
2myxothiazol45 1310.4MT-CYB, CYC1
3citrinin459.3MT-CYB, CYC1
4antimycin a459.2CYC1, MT-CYB
5ubiquinone459.2MT-CYB, CYC1
6hydroquinone45 2610.1MT-CYB, CYC1
7iron-sulfur458.9MT-CYB, CYC1
8QH2268.9UQCRB, UQCRC2, UQCRQ, CYC1
9Ubiquinone Q2268.9CYC1, UQCRQ, UQCRC2, UQCRB
10Ubiquinone Q1268.9UQCRB, UQCRC2, UQCRQ, CYC1

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1respiratory chainGO:00704699.6UQCRQ, CYC1
2mitochondrial respiratory chain complex IIIGO:00057509.2BCS1L, UQCRC2, UQCRB
3mitochondrial inner membraneGO:00057437.7UQCC2, UQCRB, UQCRC2, UQCRQ, TTC19, CYC1
4mitochondrionGO:00057397.5UQCC2, UQCRC2, UQCRQ, BCS1L, TTC19, CYC1

Biological processes related to Mitochondrial Complex Iii Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex III assemblyGO:00345519.8TTC19, BCS1L
2oxidative phosphorylationGO:00061199.5UQCRB, UQCRC2
3aerobic respirationGO:00090609.3UQCRB, UQCRC2
4respiratory electron transport chainGO:00229048.8UQCRB, UQCRC2, UQCRQ, CYC1
5cellular metabolic processGO:00442378.8UQCRB, UQCRC2, UQCRQ, CYC1
6small molecule metabolic processGO:00442818.7UQCRB, UQCRC2, UQCRQ, CYC1

Products for genes affiliated with Mitochondrial Complex Iii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mitochondrial Complex Iii Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet