MCID: MTC008
MIFTS: 27

Mitochondrial Complex Iii Deficiency malady

Summaries for Mitochondrial Complex Iii Deficiency

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42NIH Rare Diseases, 32MalaCards
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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: 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. The compounds 2-NONYL-4-HYDROXYQUINOLINE N-OXIDE and FAMOXADONE have been mentioned in the context of this disorder. Affiliated tissues include liver.

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

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42NIH Rare Diseases, 22GTR, 60UMLS, 20GeneTests
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Aliases & Descriptions:

mitochondrial complex iii deficiency 42 22 60
complex 3 mitochondrial respiratory chain deficiency 42 20


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

Clinical Features for Mitochondrial Complex Iii Deficiency

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Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

32
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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Genetic Variations for Mitochondrial Complex Iii Deficiency

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Expression for genes affiliated with Mitochondrial Complex Iii Deficiency

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1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Complex Iii Deficiency

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11DrugBank
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Compounds related to Mitochondrial Complex Iii Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
12-NONYL-4-HYDROXYQUINOLINE N-OXIDE118.7UQCRQ, UQCRC2, UQCRB
2FAMOXADONE118.7UQCRQ, UQCRC2, UQCRB
3METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE118.6UQCRQ, UQCRC2, UQCRB
4METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE118.6UQCRQ, UQCRC2, UQCRB
55-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole118.5UQCRB, UQCRC2, UQCRQ
62-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol118.5UQCRQ, UQCRC2, UQCRB
7(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE118.4UQCRQ, UQCRC2, UQCRB
8UBIQUINONE-2118.2UQCRQ, 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
1mitochondrial respiratory chain complex IIIGO:0057508.4BCS1L, UQCRC2, UQCRB
2mitochondrial inner membraneGO:0057438.1TTC19, UQCRQ, UQCRC2, UQCRB

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex III assemblyGO:0345519.7BCS1L, TTC19
2aerobic respirationGO:0090609.1UQCRC2, UQCRB
3oxidative phosphorylationGO:0061198.8UQCRC2, UQCRB
4respiratory electron transport chainGO:0229048.5UQCRQ, UQCRC2, UQCRB
5cellular metabolic processGO:0442378.4UQCRB, UQCRC2, UQCRQ

Products for genes affiliated with Mitochondrial Complex Iii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Complex Iii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet