MCID: ISL116
MIFTS: 21

Isolated Complex Iii Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Isolated Complex Iii Deficiency

MalaCards integrated aliases for Isolated Complex Iii Deficiency:

Name: Isolated Complex Iii Deficiency 60
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 60
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 60
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 60
Isolated Coq-Cytochrome C Reductase Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
isolated complex iii deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 35 G71.3
Orphanet 60 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 mitochondrial complex iii deficiency and cerebellar hypoplasia. An important gene associated with Isolated Complex Iii Deficiency is UQCC3 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Isolated Complex Iii Deficiency

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency 26.2 BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
2 cerebellar hypoplasia 9.8
3 mitochondrial encephalomyopathy 9.8
4 mitochondrial complex iii deficiency, nuclear type 1 9.7 BCS1L UQCRB

Symptoms & Phenotypes for Isolated Complex Iii Deficiency

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.32 UQCRC2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.32 UQCRC2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.32 CYC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.32 CYC1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.32 CYC1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.32 CYC1 UQCRC2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.32 CYC1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.32 CYC1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.32 CYC1
10 Decreased shRNA abundance GR00297-A 9.26 CYC1 UQCRB UQCRC2 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

Publications for Isolated Complex Iii Deficiency

Articles related to Isolated Complex Iii Deficiency:

# Title Authors Year
1
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. ( 25452764 )
2014

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 mitochondrion GO:0005739 9.91 BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
2 respiratory chain GO:0070469 9.63 CYC1 MT-CYB TTC19 UQCRB UQCRC2 UQCRQ
3 mitochondrial inner membrane GO:0005743 9.61 BCS1L CYC1 MT-CYB TTC19 UQCC2 UQCC3
4 integral component of mitochondrial inner membrane GO:0031305 9.32 MT-CYB UQCC3
5 mitochondrial respiratory chain complex III GO:0005750 9.17 BCS1L CYC1 MT-CYB UQCC3 UQCRB UQCRC2
6 membrane GO:0016020 10.02 BCS1L CYC1 MT-CYB TTC19 UQCC2 UQCC3

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 9.63 CYC1 MT-CYB TTC19 UQCRB UQCRC2 UQCRQ
2 aerobic respiration GO:0009060 9.37 UQCRB UQCRC2
3 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.35 CYC1 MT-CYB UQCC3 UQCRB UQCRQ
4 oxidative phosphorylation GO:0006119 9.32 UQCRB UQCRC2
5 response to glucagon GO:0033762 9.26 CYC1 MT-CYB
6 mitochondrial respiratory chain complex III assembly GO:0034551 9.1 BCS1L LYRM7 TTC19 UQCC2 UQCC3 UQCRB

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 CYC1 MT-CYB
2 ubiquinol-cytochrome-c reductase activity GO:0008121 8.8 MT-CYB UQCRB UQCRQ

Sources for Isolated Complex Iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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