MCID: MTC008
MIFTS: 40

Mitochondrial Complex Iii Deficiency malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

Aliases & Descriptions for Mitochondrial Complex Iii Deficiency:

Name: Mitochondrial Complex Iii Deficiency 50 25 29 69
Isolated Coq-Cytochrome C Reductase Deficiency 25 56
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 56
Mitochondrial Respiratory Chain Complex Iii Deficiency 24
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 56
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 56
Complex 3 Mitochondrial Respiratory Chain Deficiency 50
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 25

Characteristics:

Orphanet epidemiological data:

56
isolated coq-cytochrome c reductase deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

Orphanet 56 ORPHA1460
ICD10 via Orphanet 34 G71.3

Summaries for Mitochondrial Complex Iii Deficiency

NIH Rare Diseases : 50 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 isolated coq-cytochrome c reductase deficiency, is related to leigh syndrome 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial protein import. The drugs Ubiquinone and Trace Elements have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, 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.

Related Diseases for Mitochondrial Complex Iii Deficiency

Diseases related to Mitochondrial Complex Iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 leigh syndrome 31.8 BCS1L UQCRB
2 mitochondrial complex iii deficiency, nuclear type 1 12.5
3 mitochondrial complex iii deficiency, nuclear type 2 12.4
4 mitochondrial complex iii deficiency, nuclear type 6 12.4
5 mitochondrial complex iii deficiency, nuclear type 9 12.4
6 mitochondrial complex iii deficiency, nuclear type 8 12.4
7 mitochondrial complex iii deficiency, nuclear type 7 12.4
8 mitochondrial complex iii deficiency, nuclear type 4 12.4
9 mitochondrial complex iii deficiency, nuclear type 3 12.4
10 mitochondrial complex iii deficiency, nuclear type 5 12.4
11 mitochondrial respiratory chain complex iii deficiency, lyrm7-related 11.2
12 mitochondrial respiratory chain complex iii deficiency, uqcc2-related 11.2
13 mitochondrial respiratory chain complex iii deficiency, uqcc3-related 11.2
14 mitochondrial respiratory chain complex iii deficiency, cyc1-related 11.2
15 mitochondrial respiratory chain complex iii deficiency, uqcrb-related 11.0
16 mitochondrial respiratory chain complex iii deficiency, uqcrq2 related 11.0
17 mitochondrial respiratory chain complex iii deficiency, bcs1l-related 11.0
18 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.0 ATP5E UQCRC2
19 colon carcinoma in situ 9.9 CYC1 MT-CYB
20 cerebellar ataxia 9.7
21 ataxia 9.7
22 myoclonus 9.7
23 hypogonadism 9.7
24 hyperglycemia 9.7
25 myopathy 9.7
26 bjornstad syndrome 9.6 ATP5E BCS1L TTC19 UQCRQ
27 mn1 8.4 ATP5E BCS1L CYC1 LYRM7 MT-CYB TTC19

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
id 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

Drugs for Mitochondrial Complex Iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone Phase 3
2 Trace Elements Phase 3
3 Vitamins Phase 3
4 Micronutrients Phase 3
5
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Mitochondrial Complex Iii Deficiency

Genetic Tests for Mitochondrial Complex Iii Deficiency

Genetic tests related to Mitochondrial Complex Iii Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Complex Iii Deficiency 29
2 Mitochondrial Respiratory Chain Complex Iii Deficiency 24

Anatomical Context for Mitochondrial Complex Iii Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

39
Liver, Heart, Kidney, Brain, Skeletal Muscle

Publications for Mitochondrial Complex Iii Deficiency

Articles related to Mitochondrial Complex Iii Deficiency:

(show all 14)
id Title Authors Year
1
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. ( 27074787 )
2016
2
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. ( 25899669 )
2015
3
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. ( 25772319 )
2015
4
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. ( 25914718 )
2015
5
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. ( 25239759 )
2014
6
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. ( 23281071 )
2013
7
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. ( 23329552 )
2012
8
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. ( 21278747 )
2011
9
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. ( 20472482 )
2010
10
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. ( 19389488 )
2009
11
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. ( 19508421 )
2009
12
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. ( 18439546 )
2008
13
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. ( 17932705 )
2007
14
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
id 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.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121908573 GRCh37 Chromosome 2, 219526485: 219526485
3 BCS1L NM_004328.4(BCS1L): c.1057G> A (p.Val353Met) single nucleotide variant Pathogenic rs121908574 GRCh37 Chromosome 2, 219527906: 219527906
4 BCS1L NM_004328.4(BCS1L): c.133C> T (p.Arg45Cys) single nucleotide variant Pathogenic rs121908575 GRCh37 Chromosome 2, 219525843: 219525843
5 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121908576 GRCh37 Chromosome 2, 219525876: 219525876
6 BCS1L NM_004328.4(BCS1L): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121908578 GRCh37 Chromosome 2, 219526571: 219526571
7 BCS1L NM_004328.4(BCS1L): c.148A> G (p.Thr50Ala) single nucleotide variant Pathogenic rs121908580 GRCh37 Chromosome 2, 219525858: 219525858
8 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144885874 GRCh37 Chromosome 2, 219526568: 219526568
9 UQCRB UQCRB, 4-BP DEL, NT338 deletion Pathogenic
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

GO Terms for Mitochondrial Complex Iii Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.91 ATP5E BCS1L CYC1 MT-CYB TTC19 UQCC2
2 mitochondrial inner membrane GO:0005743 9.65 ATP5E BCS1L CYC1 MT-CYB TTC19 UQCC2
3 mitochondrial matrix GO:0005759 9.58 ATP5E LYRM7 UQCC2
4 respiratory chain GO:0070469 9.55 CYC1 MT-CYB UQCRB UQCRC2 UQCRQ
5 integral component of mitochondrial inner membrane GO:0031305 9.32 MT-CYB UQCC3
6 mitochondrial respiratory chain complex III GO:0005750 9.17 BCS1L CYC1 MT-CYB UQCC3 UQCRB UQCRC2
7 membrane GO:0016020 10.07 ATP5E BCS1L CYC1 MT-CYB TTC19 UQCC2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 CYC1 MT-CYB UQCRB UQCRC2 UQCRQ
2 proton transport GO:0015992 9.49 ATP5E MT-CYB
3 ATP biosynthetic process GO:0006754 9.48 ATP5E UQCC3
4 aerobic respiration GO:0009060 9.46 UQCRB UQCRC2
5 cristae formation GO:0042407 9.43 ATP5E UQCC3
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.4 ATP5E CYC1
7 oxidative phosphorylation GO:0006119 9.37 UQCRB UQCRC2
8 mitochondrial respiratory chain complex III assembly GO:0034551 9.35 BCS1L TTC19 UQCC2 UQCC3 UQCRB
9 hydrogen ion transmembrane transport GO:1902600 9.33 MT-CYB UQCRB UQCRQ
10 response to glucagon GO:0033762 9.26 CYC1 MT-CYB
11 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.1 CYC1 MT-CYB UQCC3 UQCRB UQCRC2 UQCRQ

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 8.96 CYC1 MT-CYB
2 ubiquinol-cytochrome-c reductase activity GO:0008121 8.8 MT-CYB UQCRB UQCRQ

Sources for Mitochondrial Complex Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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