MCID: MTC008
MIFTS: 30

Mitochondrial Complex Iii Deficiency

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency:

Name: Mitochondrial Complex Iii Deficiency 49 24 28 69
Complex 3 Mitochondrial Respiratory Chain Deficiency 49
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 24
Isolated Coq-Cytochrome C Reductase Deficiency 24

Classifications:



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UMLS 69 C1852372

Summaries for Mitochondrial Complex Iii Deficiency

NIH Rare Diseases : 49 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 isolated complex iii deficiency. An important gene associated with Mitochondrial Complex Iii Deficiency is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Cardiac muscle contraction and Mitochondrial protein import. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 24 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

Graphical network of the top 20 diseases related to Mitochondrial Complex Iii Deficiency:



Diseases related to Mitochondrial Complex Iii Deficiency

Symptoms & Phenotypes for Mitochondrial Complex Iii Deficiency

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

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.81 BCS1L CYC1 UQCRQ
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.81 BCS1L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.81 UQCRC2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.81 UQCRQ
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.81 BCS1L
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.81 UQCRC2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.81 CYC1 UQCRQ
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.81 CYC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.81 BCS1L
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.81 BCS1L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.81 BCS1L
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.81 CYC1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.81 BCS1L
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.81 CYC1 UQCRC2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.81 CYC1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.81 CYC1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.81 CYC1 UQCRQ
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.81 UQCRQ
19 Decreased shRNA abundance GR00297-A 9.26 CYC1 UQCRB UQCRC2 UQCRQ

Drugs & Therapeutics for Mitochondrial Complex Iii Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Iii Deficiency

Genetic Tests for Mitochondrial Complex Iii Deficiency

Genetic tests related to Mitochondrial Complex Iii Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency 28 BCS1L

Anatomical Context for Mitochondrial Complex Iii Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

38
Liver, Kidney, Skeletal Muscle, Heart, Brain

Publications for Mitochondrial Complex Iii Deficiency

Articles related to Mitochondrial Complex Iii Deficiency:

(show all 16)
# Title Authors Year
1
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency]. ( 28604960 )
2017
2
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia. ( 28275242 )
2017
3
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. ( 27074787 )
2016
4
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. ( 25914718 )
2015
5
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. ( 25899669 )
2015
6
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. ( 25772319 )
2015
7
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. ( 25239759 )
2014
8
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. ( 23281071 )
2013
9
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. ( 23329552 )
2012
10
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. ( 21278747 )
2011
11
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. ( 20472482 )
2010
12
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ( 19389488 )
2009
13
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. ( 19508421 )
2009
14
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. ( 18439546 )
2008
15
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. ( 17932705 )
2007
16
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

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UQCRB UQCRB, 4-BP DEL, NT338 deletion Pathogenic
2 BCS1L NM_004328.4(BCS1L): c.830G> A (p.Ser277Asn) single nucleotide variant Pathogenic rs121908571 GRCh37 Chromosome 2, 219527343: 219527343
3 BCS1L NM_004328.4(BCS1L): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121908573 GRCh37 Chromosome 2, 219526485: 219526485
4 BCS1L NM_004328.4(BCS1L): c.1057G> A (p.Val353Met) single nucleotide variant Pathogenic rs121908574 GRCh37 Chromosome 2, 219527906: 219527906
5 BCS1L NM_004328.4(BCS1L): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs121908575 GRCh37 Chromosome 2, 219525843: 219525843
6 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh37 Chromosome 2, 219525876: 219525876
7 BCS1L NM_004328.4(BCS1L): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121908578 GRCh37 Chromosome 2, 219526571: 219526571
8 BCS1L NM_004328.4(BCS1L): c.148A> G (p.Thr50Ala) single nucleotide variant Pathogenic rs121908580 GRCh37 Chromosome 2, 219525858: 219525858
9 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144885874 GRCh37 Chromosome 2, 219526568: 219526568
10 BCS1L NM_004328.4(BCS1L): c.598C> T (p.Arg200Ter) single nucleotide variant Pathogenic rs776838028 GRCh38 Chromosome 2, 218661896: 218661896

Expression for Mitochondrial Complex Iii Deficiency

Search GEO for disease gene expression data for Mitochondrial Complex Iii Deficiency.

Pathways for Mitochondrial Complex Iii Deficiency

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

# Super pathways Score Top Affiliating Genes
1 10.82 CYC1 UQCRB UQCRC2 UQCRQ
2 10.75 BCS1L CYC1

GO Terms for Mitochondrial Complex Iii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.92 BCS1L CYC1 TTC19 UQCC2 UQCC3 UQCRB
2 mitochondrion GO:0005739 9.86 BCS1L CYC1 LYRM7 TTC19 UQCC2 UQCRB
3 mitochondrial inner membrane GO:0005743 9.56 BCS1L CYC1 TTC19 UQCC2 UQCC3 UQCRB
4 respiratory chain GO:0070469 9.55 CYC1 TTC19 UQCRB UQCRC2 UQCRQ
5 mitochondrial respiratory chain complex III GO:0005750 9.1 BCS1L CYC1 UQCC3 UQCRB UQCRC2 UQCRQ

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.55 CYC1 TTC19 UQCRB UQCRC2 UQCRQ
2 hydrogen ion transmembrane transport GO:1902600 9.37 UQCRB UQCRQ
3 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.35 CYC1 UQCC3 UQCRB UQCRC2 UQCRQ
4 aerobic respiration GO:0009060 9.32 UQCRB UQCRC2
5 oxidative phosphorylation GO:0006119 9.26 UQCRB UQCRC2
6 mitochondrial respiratory chain complex III assembly GO:0034551 9.1 BCS1L LYRM7 TTC19 UQCC2 UQCC3 UQCRB

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinol-cytochrome-c reductase activity GO:0008121 8.62 UQCRB UQCRQ

Sources for Mitochondrial Complex Iii Deficiency

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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