MCID: MTC008
MIFTS: 35

Mitochondrial Complex Iii Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Complex Iii Deficiency

MalaCards integrated aliases for Mitochondrial Complex Iii Deficiency:

Name: Mitochondrial Complex Iii Deficiency 12 20 43 36 29 15 70
Complex 3 Mitochondrial Respiratory Chain Deficiency 20 6
Ubiquinone-Cytochrome C Oxidoreductase Deficiency 43
Isolated Coq-Cytochrome C Reductase Deficiency 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0111139
KEGG 36 H02086
UMLS 70 C1852372

Summaries for Mitochondrial Complex Iii Deficiency

MedlinePlus Genetics : 43 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.The severity of mitochondrial complex III deficiency varies widely among affected individuals. People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). More severely affected individuals have problems with multiple body systems, such as liver disease that can lead to liver failure, kidney abnormalities (tubulopathy), and brain dysfunction (encephalopathy). Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. Some affected individuals have a form of heart disease called cardiomyopathy, which can lead to heart failure. Most people with mitochondrial complex III deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules called ketones (ketoacidosis) or high blood sugar levels (hyperglycemia). Abnormally high levels of these chemicals in the body can be life-threatening.Mitochondrial complex III deficiency can be fatal in childhood, although individuals with mild signs and symptoms can survive into adolescence or adulthood.

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 2 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 heart and liver, and related phenotype is Decreased shRNA abundance.

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.

GARD : 20 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.

KEGG : 36 Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney dysfunction and frequently death. Until now, mutations in nine genes have been known to cause CIII deficiency. CYC1, UQCRB, UQCRQ, and UQCRC2 encode components of CIII itself, whereas BCS1L, TTC19, LYRM7, UQCC2, and UQCC3 produce mitochondrial assembly factors.

Wikipedia : 73 The coenzyme Q : cytochrome c - oxidoreductase, sometimes called the cytochrome bc1 complex, and at... more...

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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex iii deficiency, nuclear type 2 32.7 TTC19 NCOR1 MSTO1
2 mitochondrial complex iii deficiency, nuclear type 1 32.4 ZSWIM7 UQCRQ UQCRB TTC19 NCOR1 BCS1L
3 mitochondrial complex v deficiency, nuclear type 3 32.4 UQCRQ UQCRC2 UQCC3 UQCC2 TTC19 PDZD9
4 leigh syndrome 32.0 UQCRQ UQCRC2 TTC19 MT-CYB BCS1L
5 lactic acidosis 29.6 UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2 MT-CYB
6 gracile syndrome 28.9 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC2 TTC19
7 isolated complex iii deficiency 28.7 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC3 UQCC2
8 mitochondrial complex iii deficiency, nuclear type 8 11.9
9 mitochondrial complex iii deficiency, nuclear type 6 11.9
10 mitochondrial complex iii deficiency, nuclear type 9 11.9
11 mitochondrial complex iii deficiency, nuclear type 7 11.9
12 mitochondrial complex iii deficiency, nuclear type 4 11.9
13 mitochondrial complex iii deficiency, nuclear type 3 11.9
14 mitochondrial complex iii deficiency, nuclear type 10 11.8
15 ataxia and polyneuropathy, adult-onset 10.2
16 hypoglycemia 10.2
17 mitochondrial disorders 10.2
18 combined oxidative phosphorylation deficiency 4 10.2 UQCC3 TTC19 LYRM7
19 infantile cerebellar-retinal degeneration 10.2 UQCC3 TTC19 LYRM7
20 pearson marrow-pancreas syndrome 10.1 MT-CYB BCS1L
21 bjornstad syndrome 10.1 UQCRB BCS1L
22 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 10.1 UQCRB MT-CYB
23 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
24 metabolic acidosis 10.1
25 liver disease 10.1
26 myopathy 10.1
27 mitochondrial dna-associated leigh syndrome and narp 10.1
28 nuclear gene-encoded leigh syndrome spectrum 10.1
29 hypotonia 10.1
30 myoclonic epilepsy associated with ragged-red fibers 10.1 MT-CYB CYC1 BCS1L
31 cole-carpenter syndrome 10.0 MIA2 C11orf49
32 atrial standstill 1 10.0
33 3-methylglutaconic aciduria, type iii 10.0
34 stroke, ischemic 10.0
35 hypogonadotropic hypogonadism 10.0
36 hemiplegia 10.0
37 neonatal diabetes 10.0
38 hypertrophic cardiomyopathy 10.0
39 hypogonadism 10.0
40 hyperglycemia 10.0
41 dystonia 10.0
42 mitochondrial metabolism disease 10.0
43 alopecia 10.0
44 alopecia totalis 10.0
45 athetosis 10.0
46 encephalopathy 10.0
47 myoclonus 10.0
48 mitochondrial complex v deficiency, mitochondrial type 1 9.9 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
49 combined oxidative phosphorylation deficiency 22 9.9 UQCRQ UQCC3 UQCC2 TTC19 LYRM7
50 leber hereditary optic neuropathy, modifier of 9.9 UQCRFS1 MT-CYB BCS1L

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 9.1 CYC1 UQCR10 UQCRB UQCRC2 UQCRFS1 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

Anatomical Context for Mitochondrial Complex Iii Deficiency

MalaCards organs/tissues related to Mitochondrial Complex Iii Deficiency:

40
Heart, Liver

Publications for Mitochondrial Complex Iii Deficiency

Articles related to Mitochondrial Complex Iii Deficiency:

(show all 29)
# Title Authors PMID Year
1
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. 6 61
19508421 2009
2
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 61 6
19162478 2009
3
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 6
27959697 2017
4
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 6
21274865 2011
5
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 6
17403714 2007
6
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 6
17314340 2007
7
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 6
12910490 2003
8
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. 6
12709789 2003
9
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 6
12215968 2002
10
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 6
11528392 2001
11
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. 61
31883641 2020
12
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment. 61
31551910 2019
13
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 61
29961508 2018
14
UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia. 61
28275242 2017
15
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency]. 61
28604960 2017
16
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. 61
27074787 2017
17
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. 61
25899669 2015
18
Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency. 61
25239759 2015
19
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature. 61
25772319 2015
20
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 61
25914718 2015
21
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. 61
23281071 2013
22
Radiological and electroencephalographic findings in mitochondrial complex III deficiency. 61
23329552 2012
23
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. 61
21278747 2011
24
Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. 61
20472482 2010
25
Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 61
19389488 2009
26
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 61
18439546 2008
27
Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. 61
17932705 2007
28
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. 61
11891837 2002
29
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. 61
7798118 1995

Variations for Mitochondrial Complex Iii Deficiency

ClinVar genetic disease variations for Mitochondrial Complex Iii Deficiency:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCS1L NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) SNV Pathogenic 6163 rs121908571 GRCh37: 2:219527343-219527343
GRCh38: 2:218662620-218662620
2 BCS1L NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) SNV Pathogenic 6164 rs121908572 GRCh37: 2:219526006-219526006
GRCh38: 2:218661283-218661283
3 BCS1L NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) SNV Pathogenic 6165 rs121908573 GRCh37: 2:219526485-219526485
GRCh38: 2:218661762-218661762
4 BCS1L NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) SNV Pathogenic 6166 rs121908574 GRCh37: 2:219527906-219527906
GRCh38: 2:218663183-218663183
5 BCS1L NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) SNV Pathogenic 6168 rs121908575 GRCh37: 2:219525843-219525843
GRCh38: 2:218661120-218661120
6 BCS1L NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) SNV Pathogenic 6173 rs121908580 GRCh37: 2:219525858-219525858
GRCh38: 2:218661135-218661135
7 UQCRB UQCRB, 4-BP DEL, NT338 Deletion Pathogenic 12299 GRCh37:
GRCh38:
8 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
9 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
10 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic 6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
11 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic 6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
12 BCS1L NM_001079866.2(BCS1L):c.-50+405A>G SNV Pathogenic 553134 rs898301590 GRCh37: 2:219524871-219524871
GRCh38: 2:218660148-218660148
13 BCS1L NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) SNV Pathogenic 371015 rs749196764 GRCh37: 2:219525955-219525955
GRCh38: 2:218661232-218661232
14 BCS1L NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) SNV Pathogenic/Likely pathogenic 374395 rs776838028 GRCh37: 2:219526619-219526619
GRCh38: 2:218661896-218661896
15 BCS1L NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) SNV Likely pathogenic 6174 rs144885874 GRCh37: 2:219526568-219526568
GRCh38: 2:218661845-218661845
16 NCOR1 , TTC19 NM_006311.4(NCOR1):c.*2888A>G SNV Uncertain significance 321985 rs189970612 GRCh37: 17:15932722-15932722
GRCh38: 17:16029408-16029408
17 BCS1L NM_001079866.2(BCS1L):c.-14G>A SNV Uncertain significance 334355 rs367721351 GRCh37: 2:219525697-219525697
GRCh38: 2:218660974-218660974
18 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.-77G>A SNV Uncertain significance 321937 rs753100200 GRCh37: 17:15902985-15902985
GRCh38: 17:15999671-15999671
19 BCS1L NM_001079866.2(BCS1L):c.-43G>A SNV Uncertain significance 214155 rs145989550 GRCh37: 2:219525668-219525668
GRCh38: 2:218660945-218660945
20 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.76+10C>G SNV Uncertain significance 137769 rs200004394 GRCh37: 17:15902823-15902823
GRCh38: 17:15999509-15999509
21 TTC19 NM_017775.3(TTC19):c.-107A>T SNV Uncertain significance 137771 rs79724115 GRCh37: 17:15903056-15903056
GRCh38: 17:15999742-15999742
22 TTC19 NM_017775.4(TTC19):c.*1324dup Duplication Uncertain significance 321971 rs59177775 GRCh37: 17:15932132-15932133
GRCh38: 17:16028818-16028819
23 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.-65G>A SNV Uncertain significance 321936 rs199843558 GRCh37: 17:15902973-15902973
GRCh38: 17:15999659-15999659
24 TTC19 NM_017775.4(TTC19):c.*1324del Deletion Uncertain significance 321975 rs59177775 GRCh37: 17:15932133-15932133
GRCh38: 17:16028819-16028819
25 TTC19 NM_017775.3(TTC19):c.-141G>A SNV Uncertain significance 321938 rs886052625 GRCh37: 17:15903022-15903022
GRCh38: 17:15999708-15999708
26 TTC19 NM_017775.3(TTC19):c.-73G>A SNV Uncertain significance 281909 rs149555498 GRCh37: 17:15903090-15903090
GRCh38: 17:15999776-15999776
27 TTC19 NM_017775.4(TTC19):c.*1323_*1324dup Duplication Uncertain significance 321972 rs59177775 GRCh37: 17:15932132-15932133
GRCh38: 17:16028818-16028819
28 TTC19 NM_017775.4(TTC19):c.*1325delinsAAAAAAAAAA Indel Uncertain significance 321980 rs886052641 GRCh37: 17:15932161-15932161
GRCh38: 17:16028847-16028847
29 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.76+122C>T SNV Uncertain significance 321933 rs61747574 GRCh37: 17:15902711-15902711
GRCh38: 17:15999397-15999397
30 TTC19 NM_017775.4(TTC19):c.1056_1058del (p.Lys352_Asp353delinsAsn) Deletion Uncertain significance 321950 rs755549162 GRCh37: 17:15930748-15930750
GRCh38: 17:16027434-16027436
31 TTC19 NM_017775.4(TTC19):c.*1296_*1298dup Duplication Uncertain significance 321970 rs886052636 GRCh37: 17:15932131-15932132
GRCh38: 17:16028817-16028818
32 TTC19 NM_017775.4(TTC19):c.*1320_*1324dup Duplication Uncertain significance 321973 rs59177775 GRCh37: 17:15932132-15932133
GRCh38: 17:16028818-16028819
33 TTC19 NM_017775.4(TTC19):c.*1321_*1324dup Duplication Uncertain significance 321976 rs59177775 GRCh37: 17:15932132-15932133
GRCh38: 17:16028818-16028819
34 TTC19 NM_017775.4(TTC19):c.*437del Deletion Uncertain significance 321956 rs886052629 GRCh37: 17:15931273-15931273
GRCh38: 17:16027959-16027959
35 TTC19 NM_017775.4(TTC19):c.*670dup Duplication Uncertain significance 321959 rs764835326 GRCh37: 17:15931505-15931506
GRCh38: 17:16028191-16028192
36 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.76+114A>G SNV Uncertain significance 321934 rs886052624 GRCh37: 17:15902719-15902719
GRCh38: 17:15999405-15999405
37 TTC19 NM_017775.3(TTC19):c.-83C>T SNV Uncertain significance 321939 rs368411974 GRCh37: 17:15903080-15903080
GRCh38: 17:15999766-15999766
38 TTC19 , ZSWIM7 NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln) SNV Uncertain significance 321935 rs544159811 GRCh37: 17:15902835-15902835
GRCh38: 17:15999521-15999521
39 TTC19 NM_017775.4(TTC19):c.*1317_*1324dup Duplication Uncertain significance 321974 rs59177775 GRCh37: 17:15932132-15932133
GRCh38: 17:16028818-16028819
40 BCS1L NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) SNV Uncertain significance 334359 rs781666793 GRCh37: 2:219527281-219527281
GRCh38: 2:218662558-218662558
41 BCS1L NM_001079866.2(BCS1L):c.-50+458T>G SNV Uncertain significance 334354 rs188224298 GRCh37: 2:219524924-219524924
GRCh38: 2:218660201-218660201
42 BCS1L NM_001079866.2(BCS1L):c.-53G>T SNV Uncertain significance 334352 rs886055624 GRCh37: 2:219524463-219524463
GRCh38: 2:218659740-218659740
43 BCS1L NM_001079866.2(BCS1L):c.321-12G>A SNV Uncertain significance 334358 rs776363896 GRCh37: 2:219526117-219526117
GRCh38: 2:218661394-218661394
44 BCS1L NM_001079866.2(BCS1L):c.-50+425T>C SNV Uncertain significance 334353 rs886055625 GRCh37: 2:219524891-219524891
GRCh38: 2:218660168-218660168
45 BCS1L NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) SNV Uncertain significance 334356 rs886055626 GRCh37: 2:219525822-219525822
GRCh38: 2:218661099-218661099
46 BCS1L NM_001079866.2(BCS1L):c.258T>C (p.His86=) SNV Uncertain significance 334357 rs886055627 GRCh37: 2:219525968-219525968
GRCh38: 2:218661245-218661245
47 BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) SNV Uncertain significance 625207 rs369691608 GRCh37: 2:219525978-219525978
GRCh38: 2:218661255-218661255
48 BCS1L NM_001079866.2(BCS1L):c.-85G>A SNV Uncertain significance 898620 GRCh37: 2:219524431-219524431
GRCh38: 2:218659708-218659708
49 BCS1L NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) SNV Uncertain significance 895700 GRCh37: 2:219526587-219526587
GRCh38: 2:218661864-218661864
50 BCS1L NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) SNV Uncertain significance 214165 rs747956412 GRCh37: 2:219525979-219525979
GRCh38: 2:218661256-218661256

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:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Oxidative phosphorylation hsa00190

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 membrane GO:0016020 10.22 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 UQCC3
2 mitochondrion GO:0005739 10.07 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 UQCC3
3 mitochondrial inner membrane GO:0005743 9.9 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 UQCC3
4 respiratory chain GO:0070469 9.56 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 TTC19
5 mitochondrial respiratory chain complex IV GO:0005751 9.37 UQCRFS1 UQCRC2
6 mitochondrial respiratory chain complex III GO:0005750 9.28 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 UQCC3

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 9.76 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 TTC19
2 aerobic respiration GO:0009060 9.43 UQCRC2 UQCRB UQCR10
3 mitochondrial respiratory chain complex III assembly GO:0034551 9.43 UQCRFS1 UQCC3 UQCC2 TTC19 LYRM7 BCS1L
4 oxidative phosphorylation GO:0006119 9.4 UQCRC2 UQCRB
5 respiratory electron transport chain GO:0022904 9.37 UQCRFS1 MT-CYB
6 response to glucagon GO:0033762 9.32 MT-CYB CYC1
7 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.23 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR10 UQCC3

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 8.92 UQCRQ UQCRFS1 UQCR10 MT-CYB

Sources for Mitochondrial 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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