MCID: MTC008
MIFTS: 38

Mitochondrial Complex Iii Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Mitochondrial Complex Iii Deficiency

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NIH Rare Diseases:42 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 complex 3 mitochondrial respiratory chain deficiency, is related to mitochondrial complex iii deficiency, nuclear type 1 and mitochondrial complex iii deficiency, nuclear type 6. 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 Metabolism. The compounds Ubiquinone Q1 and QH2 have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart.

Genetics Home Reference:22 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 42 23 22 61
Complex 3 Mitochondrial Respiratory Chain Deficiency 42 21
 
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 22
Isolated Coq-Cytochrome C Reductase Deficiency 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


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 Deficiency21
2 Mitochondrial Complex Iii Deficiency23

Anatomical Context for Mitochondrial Complex Iii Deficiency

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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

32
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:

idTitleAuthorsYear
1
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. (25239759)
2014
2
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (23281071)
2013
3
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. (23329552)
2012
4
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (21278747)
2011
5
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. (20472482)
2010
6
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. (19508421)
2009
7
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. (19389488)
2009
8
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (18439546)
2008
9
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. (17932705)
2007
10
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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Expression patterns in normal tissues for genes affiliated with Mitochondrial Complex Iii Deficiency

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

idCompoundScoreTop Affiliating Genes
1Ubiquinone Q1258.0CYC1, UQCRC2, UQCRB, UQCRQ
2QH2257.9UQCRB, UQCRC2, UQCRQ, CYC1
3Ubiquinone Q2257.7UQCRQ, UQCRC2, UQCRB, 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:0704699.0UQCRQ, CYC1
2mitochondrial respiratory chain complex IIIGO:0057509.0BCS1L, UQCRC2, UQCRB
3mitochondrial inner membraneGO:0057437.4UQCRQ, CYC1, UQCRB, UQCRC2, TTC19
4mitochondrionGO:0057397.3UQCRC2, CYC1, TTC19, BCS1L, UQCRQ

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex III assemblyGO:0345519.6BCS1L, TTC19
2oxidative phosphorylationGO:0061199.3UQCRB, UQCRC2
3aerobic respirationGO:0090609.1UQCRC2, UQCRB
4respiratory electron transport chainGO:0229048.1UQCRC2, CYC1, UQCRQ, UQCRB
5cellular metabolic processGO:0442378.1UQCRB, UQCRC2, UQCRQ, CYC1
6small molecule metabolic processGO:0442818.0UQCRB, UQCRC2, UQCRQ, CYC1

Products for genes affiliated with Mitochondrial Complex Iii Deficiency

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Sources for Mitochondrial Complex Iii Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet