MCID: ISL116
MIFTS: 23

Isolated Complex Iii Deficiency

Categories: Metabolic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Isolated Complex Iii Deficiency

MalaCards integrated aliases for Isolated Complex Iii Deficiency:

Name: Isolated Complex Iii Deficiency 58
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 58
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 58
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 58
Isolated Coq-Cytochrome C Reductase Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
isolated complex iii deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 G71.3
Orphanet 58 ORPHA1460

Summaries for Isolated Complex Iii Deficiency

MalaCards based summary : Isolated Complex Iii Deficiency, also known as isolated mitochondrial respiratory chain complex iii deficiency, is related to leigh syndrome and mitochondrial complex iii deficiency. An important gene associated with Isolated Complex Iii Deficiency is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include pancreas, and related phenotype is Decreased shRNA abundance.

Related Diseases for Isolated Complex Iii Deficiency

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 29.3 UQCRQ UQCRC2 TTC19 MT-CYB BCS1L
2 mitochondrial complex iii deficiency 29.1 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2
3 cholestasis 10.2
4 disorder of energy metabolism 10.2
5 pearson marrow-pancreas syndrome 10.0 MT-CYB BCS1L
6 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 10.0 UQCRB MT-CYB
7 ataxia and polyneuropathy, adult-onset 9.9
8 cerebellar hypoplasia 9.9
9 mitochondrial disorders 9.9
10 myoclonic epilepsy associated with ragged-red fibers 9.9 MT-CYB CYC1 BCS1L
11 bjornstad syndrome 9.9 UQCRB BCS1L
12 combined oxidative phosphorylation deficiency 4 9.9 UQCC3 TTC19 LYRM7
13 infantile cerebellar-retinal degeneration 9.8 UQCC3 TTC19 LYRM7
14 mitochondrial metabolism disease 9.8 TTC19 BCS1L
15 leber hereditary optic neuropathy, modifier of 9.6 UQCRFS1 MT-CYB BCS1L
16 mitochondrial complex iii deficiency, nuclear type 1 9.6 UQCRQ UQCRB TTC19 BCS1L
17 mitochondrial complex v deficiency, mitochondrial type 1 9.4 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
18 combined oxidative phosphorylation deficiency 22 9.4 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
19 mitochondrial complex v deficiency, nuclear type 3 9.1 UQCRQ UQCRC2 UQCC3 UQCC2 TTC19 LYRM7
20 lactic acidosis 8.5 UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2 MT-CYB
21 mitochondrial complex iv deficiency, nuclear type 5 8.3 UQCRQ UQCRFS1 UQCRC2 UQCC3 UQCC2 TTC19
22 gracile syndrome 8.1 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC2 TTC19

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



Diseases related to Isolated Complex Iii Deficiency

Symptoms & Phenotypes for Isolated Complex Iii Deficiency

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.02 CYC1 UQCRB UQCRC2 UQCRFS1 UQCRQ

Drugs & Therapeutics for Isolated Complex Iii Deficiency

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

Genetic Tests for Isolated Complex Iii Deficiency

Anatomical Context for Isolated Complex Iii Deficiency

MalaCards organs/tissues related to Isolated Complex Iii Deficiency:

40
Pancreas

Publications for Isolated Complex Iii Deficiency

Articles related to Isolated Complex Iii Deficiency:

(show all 11)
# Title Authors PMID Year
1
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. 61
26563427 2016
2
Respiratory chain complex III deficiency in patients with tRNA-leu mutation. 61
26782513 2015
3
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. 61
25008109 2014
4
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 61
25452764 2014
5
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 61
18439546 2008
6
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. 61
16008558 2005
7
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 61
12910490 2003
8
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. 61
10453733 1999
9
Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature. 61
10064675 1999
10
Clinical heterogeneity in respiratory chain complex III deficiency in childhood. 61
9168175 1997
11
Defects in the cytochrome bc1 complex in mitochondrial diseases. 61
2841308 1988

Variations for Isolated Complex Iii Deficiency

Expression for Isolated Complex Iii Deficiency

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

Pathways for Isolated Complex Iii Deficiency

GO Terms for Isolated Complex Iii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.07 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2
2 mitochondrion GO:0005739 10 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2
3 respiratory chain GO:0070469 9.7 UQCRQ UQCRFS1 UQCRC2 UQCRB TTC19 MT-CYB
4 mitochondrial respiratory chain complex III GO:0005750 9.56 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 MT-CYB
5 integral component of mitochondrial inner membrane GO:0031305 9.4 UQCC3 MT-CYB
6 mitochondrial respiratory chain complex IV GO:0005751 9.32 UQCRFS1 UQCRC2
7 mitochondrial inner membrane GO:0005743 9.32 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.7 UQCRQ UQCRFS1 UQCRC2 UQCRB TTC19 MT-CYB
2 mitochondrial respiratory chain complex III assembly GO:0034551 9.43 UQCRFS1 UQCC3 UQCC2 TTC19 LYRM7 BCS1L
3 aerobic respiration GO:0009060 9.4 UQCRC2 UQCRB
4 oxidative phosphorylation GO:0006119 9.37 UQCRC2 UQCRB
5 respiratory electron transport chain GO:0022904 9.32 UQCRFS1 MT-CYB
6 response to glucagon GO:0033762 9.26 MT-CYB CYC1
7 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.17 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 MT-CYB

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 8.96 MT-CYB CYC1
2 ubiquinol-cytochrome-c reductase activity GO:0008121 8.8 UQCRQ UQCRFS1 MT-CYB

Sources for Isolated Complex Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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