MCID: ISL116
MIFTS: 22

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 59
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency 59
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency 59
Isolated Ubiquinone-Cytochrome C Reductase Deficiency 59
Isolated Coq-Cytochrome C Reductase Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
isolated complex iii deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA1460
ICD10 via Orphanet 34 G71.3

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 26.6 BCS1L CYC1 LYRM7 TTC19 UQCC2 UQCC3
2 cerebellar hypoplasia 9.7
3 mitochondrial encephalomyopathy 9.7
4 encephalomyopathy 9.7
5 mitochondrial complex iii deficiency, nuclear type 1 9.6 BCS1L UQCRB

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 (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 UQCRC2 CYC1
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
2
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. ( 19162478 )
2009

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 mitochondrial respiratory chain complex III assembly GO:0034551 9.43 BCS1L LYRM7 TTC19 UQCC2 UQCC3 UQCRB
3 aerobic respiration GO:0009060 9.37 UQCRB UQCRC2
4 response to glucagon GO:0033762 9.32 CYC1 MT-CYB
5 oxidative phosphorylation GO:0006119 9.26 UQCRB UQCRC2
6 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.1 CYC1 MT-CYB UQCC3 UQCRB UQCRC2 UQCRQ

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 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
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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