MCID: MTC008
MIFTS: 34

Mitochondrial Complex Iii Deficiency malady

Genetic diseases, Rare diseases categories
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Summaries for Mitochondrial Complex Iii Deficiency

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21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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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: 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.

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.

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

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43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 62UMLS, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

mitochondrial complex iii deficiency 43 22 21 62
complex 3 mitochondrial respiratory chain deficiency 43 20
ubiquinone-cytochrome c oxidoreductase deficiency 21
isolated coq-cytochrome c reductase deficiency 21


Related Diseases for Mitochondrial Complex Iii Deficiency

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Mitochondrial Complex Iii Deficiency

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

33
Liver

Animal Models for Mitochondrial Complex Iii Deficiency or affiliated genes

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Publications for Mitochondrial Complex Iii Deficiency

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52PubMed
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Articles related to Mitochondrial Complex Iii Deficiency:

idTitleAuthorsYear
1
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (23281071)
2013
2
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. (23329552)
2012
3
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (21278747)
2011
4
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. (20472482)
2010
5
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. (19508421)
2009
6
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. (19389488)
2009
7
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (18439546)
2008
8
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. (17932705)
2007
9
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Mitochondrial Complex Iii Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1BCS1LNM_004328.4(BCS1L): c.830G> A (p.Ser277Asn)single nucleotide variantPathogenicrs121908571GRCh37Chr 2, 219527343: 219527343
2BCS1LNM_004328.4(BCS1L): c.464G> C (p.Arg155Pro)single nucleotide variantPathogenicrs121908573GRCh37Chr 2, 219526485: 219526485
3BCS1LNM_004328.4(BCS1L): c.1057G> A (p.Val353Met)single nucleotide variantPathogenicrs121908574GRCh37Chr 2, 219527906: 219527906
4BCS1LNM_004328.4(BCS1L): c.133C> T (p.Arg45Cys)single nucleotide variantPathogenicrs121908575GRCh37Chr 2, 219525843: 219525843
5BCS1LNM_004328.4(BCS1L): c.166C> T (p.Arg56Ter)single nucleotide variantPathogenicrs121908576GRCh37Chr 2, 219525876: 219525876
6BCS1LNM_004328.4(BCS1L): c.550C> T (p.Arg184Cys)single nucleotide variantPathogenicrs121908578GRCh37Chr 2, 219526571: 219526571
7BCS1LNM_004328.4(BCS1L): c.148A> G (p.Thr50Ala)single nucleotide variantPathogenicrs121908580GRCh37Chr 2, 219525858: 219525858
8BCS1LNM_004328.4(BCS1L): c.547C> T (p.Arg183Cys)single nucleotide variantPathogenicrs144885874GRCh37Chr 2, 219526568: 219526568

Expression for genes affiliated with Mitochondrial Complex Iii Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Complex Iii Deficiency

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24HMDB
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Compounds related to Mitochondrial Complex Iii Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Ubiquinone Q1248.0UQCRB, UQCRC2, UQCRQ, CYC1
2QH2247.9UQCRB, UQCRC2, UQCRQ, CYC1
3Ubiquinone Q2247.7CYC1, UQCRQ, UQCRC2, UQCRB

GO Terms for genes affiliated with Mitochondrial Complex Iii Deficiency

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16Gene Ontology
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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:0057509.0UQCRB, UQCRC2, BCS1L
3mitochondrial inner membraneGO:0057437.4CYC1, TTC19, UQCRQ, UQCRC2, UQCRB
4mitochondrionGO:0057397.3UQCRC2, 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:0345519.6TTC19, BCS1L
2oxidative phosphorylationGO:0061199.3UQCRB, UQCRC2
3aerobic respirationGO:0090609.1UQCRB, UQCRC2
4respiratory electron transport chainGO:0229048.1UQCRB, UQCRC2, UQCRQ, CYC1
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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  • Antibodies
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Sources for Mitochondrial Complex Iii Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet