MCID: MTC008
MIFTS: 32

Mitochondrial Complex Iii Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency:

Name: Mitochondrial Complex Iii Deficiency 12 53 25 37 29 6 73
Complex 3 Mitochondrial Respiratory Chain Deficiency 53
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 25
Isolated Coq-Cytochrome C Reductase Deficiency 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0111139
KEGG 37 H02086
UMLS 73 C1852372

Summaries for Mitochondrial Complex Iii Deficiency

NIH Rare Diseases : 53 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.

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 4 and mitochondrial complex iii deficiency, nuclear type 1. 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 Oxidative phosphorylation. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotype is Decreased shRNA abundance.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III.

Wikipedia : 76 The coenzyme... more...

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 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 29 BCS1L

Anatomical Context for Mitochondrial Complex Iii Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

41
Liver, Kidney, Skeletal Muscle, Heart, Brain

Publications for Mitochondrial Complex Iii Deficiency

Articles related to Mitochondrial Complex Iii Deficiency:

(show all 17)
# Title Authors Year
1
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. ( 29961508 )
2018
2
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency]. ( 28604960 )
2017
3
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia. ( 28275242 )
2017
4
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. ( 27074787 )
2016
5
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. ( 25772319 )
2015
6
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. ( 25899669 )
2015
7
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. ( 25914718 )
2015
8
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. ( 25239759 )
2014
9
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. ( 23281071 )
2013
10
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. ( 23329552 )
2012
11
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. ( 21278747 )
2011
12
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. ( 20472482 )
2010
13
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ( 19389488 )
2009
14
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. ( 19508421 )
2009
15
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. ( 18439546 )
2008
16
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. ( 17932705 )
2007
17
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
(show top 50) (show all 207)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCS1L NM_004328.4(BCS1L): c.830G> A (p.Ser277Asn) single nucleotide variant Pathogenic rs121908571 GRCh37 Chromosome 2, 219527343: 219527343
2 BCS1L NM_004328.4(BCS1L): c.830G> A (p.Ser277Asn) single nucleotide variant Pathogenic rs121908571 GRCh38 Chromosome 2, 218662620: 218662620
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.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121908573 GRCh38 Chromosome 2, 218661762: 218661762
5 BCS1L NM_004328.4(BCS1L): c.1057G> A (p.Val353Met) single nucleotide variant Pathogenic rs121908574 GRCh37 Chromosome 2, 219527906: 219527906
6 BCS1L NM_004328.4(BCS1L): c.1057G> A (p.Val353Met) single nucleotide variant Pathogenic rs121908574 GRCh38 Chromosome 2, 218663183: 218663183
7 BCS1L NM_004328.4(BCS1L): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs121908575 GRCh37 Chromosome 2, 219525843: 219525843
8 BCS1L NM_004328.4(BCS1L): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs121908575 GRCh38 Chromosome 2, 218661120: 218661120
9 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh37 Chromosome 2, 219525876: 219525876
10 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh38 Chromosome 2, 218661153: 218661153
11 BCS1L NM_004328.4(BCS1L): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121908578 GRCh37 Chromosome 2, 219526571: 219526571
12 BCS1L NM_004328.4(BCS1L): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121908578 GRCh38 Chromosome 2, 218661848: 218661848
13 BCS1L NM_004328.4(BCS1L): c.148A> G (p.Thr50Ala) single nucleotide variant Pathogenic rs121908580 GRCh37 Chromosome 2, 219525858: 219525858
14 BCS1L NM_004328.4(BCS1L): c.148A> G (p.Thr50Ala) single nucleotide variant Pathogenic rs121908580 GRCh38 Chromosome 2, 218661135: 218661135
15 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144885874 GRCh37 Chromosome 2, 219526568: 219526568
16 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144885874 GRCh38 Chromosome 2, 218661845: 218661845
17 UQCRB UQCRB, 4-BP DEL, NT338 deletion Pathogenic
18 BCS1L NM_004328.4(BCS1L): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145989550 GRCh37 Chromosome 2, 219525668: 219525668
19 BCS1L NM_004328.4(BCS1L): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145989550 GRCh38 Chromosome 2, 218660945: 218660945
20 BCS1L NM_004328.4(BCS1L): c.205C> T (p.Arg69Cys) single nucleotide variant Likely pathogenic rs377025174 GRCh37 Chromosome 2, 219525915: 219525915
21 BCS1L NM_004328.4(BCS1L): c.205C> T (p.Arg69Cys) single nucleotide variant Likely pathogenic rs377025174 GRCh38 Chromosome 2, 218661192: 218661192
22 TTC19 NM_017775.3(TTC19): c.612C> G (p.Phe204Leu) single nucleotide variant Uncertain significance rs544027755 GRCh38 Chromosome 17, 16006504: 16006504
23 TTC19 NM_017775.3(TTC19): c.612C> G (p.Phe204Leu) single nucleotide variant Uncertain significance rs544027755 GRCh37 Chromosome 17, 15909818: 15909818
24 TTC19 NM_017775.3(TTC19): c.-73G> A single nucleotide variant Uncertain significance rs149555498 GRCh37 Chromosome 17, 15903090: 15903090
25 TTC19 NM_017775.3(TTC19): c.-73G> A single nucleotide variant Uncertain significance rs149555498 GRCh38 Chromosome 17, 15999776: 15999776
26 BCS1L NM_004328.4(BCS1L): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs142540289 GRCh37 Chromosome 2, 219525911: 219525911
27 BCS1L NM_004328.4(BCS1L): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs142540289 GRCh38 Chromosome 2, 218661188: 218661188
28 BCS1L NM_004328.4(BCS1L): c.321-12G> A single nucleotide variant Uncertain significance rs776363896 GRCh38 Chromosome 2, 218661394: 218661394
29 BCS1L NM_004328.4(BCS1L): c.321-12G> A single nucleotide variant Uncertain significance rs776363896 GRCh37 Chromosome 2, 219526117: 219526117
30 BCS1L NM_004328.4(BCS1L): c.-262G> T single nucleotide variant Uncertain significance rs886055624 GRCh37 Chromosome 2, 219524463: 219524463
31 BCS1L NM_004328.4(BCS1L): c.-262G> T single nucleotide variant Uncertain significance rs886055624 GRCh38 Chromosome 2, 218659740: 218659740
32 BCS1L NM_004328.4(BCS1L): c.-94T> G single nucleotide variant Uncertain significance rs188224298 GRCh37 Chromosome 2, 219524924: 219524924
33 BCS1L NM_004328.4(BCS1L): c.-94T> G single nucleotide variant Uncertain significance rs188224298 GRCh38 Chromosome 2, 218660201: 218660201
34 BCS1L NM_004328.4(BCS1L): c.258T> C (p.His86=) single nucleotide variant Uncertain significance rs886055627 GRCh37 Chromosome 2, 219525968: 219525968
35 BCS1L NM_004328.4(BCS1L): c.258T> C (p.His86=) single nucleotide variant Uncertain significance rs886055627 GRCh38 Chromosome 2, 218661245: 218661245
36 BCS1L NM_004328.4(BCS1L): c.-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367721351 GRCh37 Chromosome 2, 219525697: 219525697
37 BCS1L NM_004328.4(BCS1L): c.-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367721351 GRCh38 Chromosome 2, 218660974: 218660974
38 BCS1L NM_004328.4(BCS1L): c.112C> G (p.Leu38Val) single nucleotide variant Uncertain significance rs886055626 GRCh37 Chromosome 2, 219525822: 219525822
39 BCS1L NM_004328.4(BCS1L): c.112C> G (p.Leu38Val) single nucleotide variant Uncertain significance rs886055626 GRCh38 Chromosome 2, 218661099: 218661099
40 BCS1L NM_004328.4(BCS1L): c.768C> G (p.Leu256=) single nucleotide variant Uncertain significance rs781666793 GRCh37 Chromosome 2, 219527281: 219527281
41 BCS1L NM_004328.4(BCS1L): c.768C> G (p.Leu256=) single nucleotide variant Uncertain significance rs781666793 GRCh38 Chromosome 2, 218662558: 218662558
42 BCS1L NM_004328.4(BCS1L): c.-127T> C single nucleotide variant Uncertain significance rs886055625 GRCh37 Chromosome 2, 219524891: 219524891
43 BCS1L NM_004328.4(BCS1L): c.-127T> C single nucleotide variant Uncertain significance rs886055625 GRCh38 Chromosome 2, 218660168: 218660168
44 BCS1L NM_004328.4(BCS1L): c.822G> A (p.Pro274=) single nucleotide variant Conflicting interpretations of pathogenicity rs112329020 GRCh37 Chromosome 2, 219527335: 219527335
45 BCS1L NM_004328.4(BCS1L): c.822G> A (p.Pro274=) single nucleotide variant Conflicting interpretations of pathogenicity rs112329020 GRCh38 Chromosome 2, 218662612: 218662612
46 UQCRQ NM_014402.4(UQCRQ): c.45C> T (p.Ile15=) single nucleotide variant Uncertain significance rs150139635 GRCh37 Chromosome 5, 132202618: 132202618
47 UQCRQ NM_014402.4(UQCRQ): c.45C> T (p.Ile15=) single nucleotide variant Uncertain significance rs150139635 GRCh38 Chromosome 5, 132866926: 132866926
48 UQCRQ NM_014402.4(UQCRQ): c.*249A> G single nucleotide variant Uncertain significance rs572786790 GRCh37 Chromosome 5, 132203523: 132203523
49 UQCRQ NM_014402.4(UQCRQ): c.*249A> G single nucleotide variant Uncertain significance rs572786790 GRCh38 Chromosome 5, 132867831: 132867831
50 UQCRQ NM_014402.4(UQCRQ): c.*545A> C single nucleotide variant Uncertain significance rs886059917 GRCh37 Chromosome 5, 132203819: 132203819

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 KEGG:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Oxidative phosphorylation hsa00190

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 mitochondrion GO:0005739 9.86 BCS1L CYC1 LYRM7 TTC19 UQCC2 UQCRB
2 mitochondrial inner membrane GO:0005743 9.56 BCS1L CYC1 TTC19 UQCC2 UQCC3 UQCRB
3 respiratory chain GO:0070469 9.55 CYC1 TTC19 UQCRB UQCRC2 UQCRQ
4 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 9.65 CYC1 TTC19 UQCRB UQCRC2 UQCRQ
2 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.35 CYC1 UQCC3 UQCRB UQCRC2 UQCRQ
3 aerobic respiration GO:0009060 9.32 UQCRB UQCRC2
4 oxidative phosphorylation GO:0006119 9.16 UQCRB UQCRC2
5 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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