MCID: MTC008
MIFTS: 38

Mitochondrial Complex Iii Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

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Mitochondrial Complex Iii Deficiency, Aliases & Descriptions:

Name: Mitochondrial Complex Iii Deficiency 41 21 22 60
Isolated Coq-Cytochrome C Reductase Deficiency 41 21 47
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 41 47
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 41 47
 
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 41 47
Complex 3 Mitochondrial Respiratory Chain Deficiency 41 20
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
isolated coq-cytochrome c reductase deficiency:
Inheritance: Autosomal recessive,Mitochondrial inheritance


External Ids:

Orphanet47 1460
ICD10 via Orphanet26 G71.3

Summaries for Mitochondrial Complex Iii Deficiency

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NIH Rare Diseases:41 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:21 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 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 Deficiency20
2 Mitochondrial Complex Iii Deficiency22

Anatomical Context for Mitochondrial Complex Iii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

31
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:
43Novoseek, 12DrugBank, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1ubiquinol439.4CYC1, MT-CYB
2myxothiazol43 1210.4MT-CYB, CYC1
3citrinin439.3MT-CYB, CYC1
4antimycin a439.2CYC1, MT-CYB
5ubiquinone439.2MT-CYB, CYC1
6hydroquinone43 2410.1MT-CYB, CYC1
7iron-sulfur438.9MT-CYB, CYC1
8QH2248.9UQCRB, UQCRC2, UQCRQ, CYC1
9Ubiquinone Q2248.9CYC1, UQCRQ, UQCRC2, UQCRB
10Ubiquinone Q1248.9UQCRB, 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 Suite gene sharing:

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 Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet