MCID: CNZ001
MIFTS: 39

Coenzyme Q10 Deficiency Disease

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Coenzyme Q10 Deficiency Disease

MalaCards integrated aliases for Coenzyme Q10 Deficiency Disease:

Name: Coenzyme Q10 Deficiency Disease 12 15
Coenzyme Q10 Deficiency 54 38 56 41 74
Coenzyme Q10 Deficiency, Primary 12 30 6
Primary Coenzyme Q10 Deficiency 25 26
Primary Coq10 Deficiency 25 26
Coenzyme Q Deficiency 25 26
Ubiquinone Deficiency 25 26
Coq Deficiency 25 26
Coq10 Deficiency, Primary 54
Coq10 Deficiency 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050730
KEGG 38 H00999
UMLS 74 C1843920

Summaries for Coenzyme Q10 Deficiency Disease

Genetics Home Reference : 26 Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.

MalaCards based summary : Coenzyme Q10 Deficiency Disease, also known as coenzyme q10 deficiency, is related to coenzyme q10 deficiency, primary, 4 and mitochondrial dna depletion syndrome, and has symptoms including ataxia and muscle weakness. An important gene associated with Coenzyme Q10 Deficiency Disease is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are Ubiquinone and other terpenoid-quinone biosynthesis and Terpenoid backbone biosynthesis. Affiliated tissues include brain, kidney and skin, and related phenotypes are intellectual disability and cataract

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.

Wikipedia : 77 Coenzyme Q10, also known as ubiquinone, ubidecarenone, coenzyme Q, and abbreviated at times to CoQ10... more...

GeneReviews: NBK410087

Related Diseases for Coenzyme Q10 Deficiency Disease

Diseases related to Coenzyme Q10 Deficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 4 32.7 COQ3 COQ5 COQ7 COQ8A COQ9 SYP
2 mitochondrial dna depletion syndrome 30.0 POLG TK2
3 aceruloplasminemia 29.3 COQ2 COQ8A POLG SACS SYNE1 SYP
4 coenzyme q10 deficiency, primary, 6 12.8
5 coenzyme q10 deficiency, primary, 2 12.8
6 coenzyme q10 deficiency, primary, 3 12.8
7 coenzyme q10 deficiency, primary, 5 12.8
8 coenzyme q10 deficiency, primary, 1 12.8
9 coenzyme q10 deficiency, primary, 7 12.8
10 coenzyme q10 deficiency, primary, 8 12.8
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.3 POLG TK2
12 multiple acyl-coa dehydrogenase deficiency 10.2 COQ6 COQ8A COQ9
13 myopathy 10.1
14 mitochondrial metabolism disease 10.1 COQ2 POLG TK2
15 leigh syndrome 10.1
16 nephrotic syndrome 10.1
17 ataxia and polyneuropathy, adult-onset 10.1
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0
19 kearns-sayre syndrome 10.0 COQ8A POLG SACS
20 hypercholesterolemia, familial 10.0
21 west syndrome 10.0
22 autosomal recessive cerebellar ataxia 10.0
23 apraxia 10.0
24 autosomal dominant cerebellar ataxia 10.0
25 hypogonadism 10.0
26 neuromuscular disease 10.0
27 fibromyalgia 10.0
28 mitochondrial myopathy 10.0
29 hypogonadotropism 10.0
30 chronic fatigue syndrome 10.0
31 diffuse mesangial sclerosis 10.0
32 hypotonia 10.0
33 spinocerebellar ataxia 31 10.0 SACS SYNE1 TK2
34 diabetes mellitus, noninsulin-dependent 10.0
35 epilepsy 9.9
36 early myoclonic encephalopathy 9.9
37 glucose transporter type 1 deficiency syndrome 9.9
38 hypertrophic cardiomyopathy 9.9
39 mitochondrial disorders 9.9
40 encephalopathy 9.9
41 spinocerebellar ataxia, autosomal recessive 10 9.9
42 mitochondrial encephalomyopathy 9.9
43 pancreatic somatostatinoma 9.9 CALCA SYP
44 atypical follicular adenoma 9.9 CALCA SYP
45 carcinoid syndrome 9.8 CALCA SYP
46 malignant pheochromocytoma 9.7 CALCA SYP

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency Disease:



Diseases related to Coenzyme Q10 Deficiency Disease

Symptoms & Phenotypes for Coenzyme Q10 Deficiency Disease

Human phenotypes related to Coenzyme Q10 Deficiency Disease:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 hallmark (90%) HP:0001249
2 cataract 33 hallmark (90%) HP:0000518
3 joint hyperflexibility 33 hallmark (90%) HP:0005692
4 hyperextensible skin 33 hallmark (90%) HP:0000974

UMLS symptoms related to Coenzyme Q10 Deficiency Disease:


ataxia, muscle weakness

GenomeRNAi Phenotypes related to Coenzyme Q10 Deficiency Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.88 CALCA COQ2 COQ3 COQ5 COQ6 COQ7

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 COQ6 COQ7 COQ9 MTCL1 POLG SYNE1

Drugs & Therapeutics for Coenzyme Q10 Deficiency Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Coenzyme Q10 Deficiency Disease

Genetic Tests for Coenzyme Q10 Deficiency Disease

Genetic tests related to Coenzyme Q10 Deficiency Disease:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary 30

Anatomical Context for Coenzyme Q10 Deficiency Disease

MalaCards organs/tissues related to Coenzyme Q10 Deficiency Disease:

42
Brain, Kidney, Skin, Heart, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency Disease

Articles related to Coenzyme Q10 Deficiency Disease:

(show top 50) (show all 64)
# Title Authors Year
1
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. ( 30682496 )
2019
2
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair. ( 29159460 )
2018
3
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency. ( 29032433 )
2018
4
Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia. ( 30292637 )
2018
5
The dilemma of diagnosing coenzyme Q10 deficiency in muscle. ( 29530532 )
2018
6
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. ( 29560582 )
2018
7
Molecular diagnosis of coenzyme Q10 deficiency: an update. ( 29781757 )
2018
8
Clinical syndromes associated with Coenzyme Q10 deficiency. ( 30030365 )
2018
9
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes. ( 30225196 )
2018
10
Increased oxidative stress and coenzyme Q10 deficiency in centenarians. ( 30279624 )
2018
11
ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease. ( 30637285 )
2018
12
Biochemical Assessment of Coenzyme Q10 Deficiency. ( 28273876 )
2017
13
Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene. ( 28465093 )
2017
14
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency. ( 28472853 )
2017
15
Coenzyme Q10 Deficiency. ( 27232365 )
2016
16
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. ( 27493029 )
2016
17
Statins barely touch the heart but bite the kidneys after cardiac surgery. Coenzyme Q10 deficiency in the dock? ( 27868016 )
2016
18
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. ( 25564041 )
2015
19
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. ( 25802402 )
2015
20
Molecular diagnosis of coenzyme Q10 deficiency. ( 26144946 )
2015
21
NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME q10 DEFICIENCY. ( 26349199 )
2015
22
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. ( 24140869 )
2014
23
Clinical presentations of coenzyme q10 deficiency syndrome. ( 25126046 )
2014
24
Biochemical diagnosis of coenzyme q10 deficiency. ( 25126047 )
2014
25
Genetics of coenzyme q10 deficiency. ( 25126048 )
2014
26
Invertebrate models for coenzyme q10 deficiency. ( 25126050 )
2014
27
An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome. ( 25126051 )
2014
28
Increased oxidative stress and coenzyme Q10 deficiency in juvenile fibromyalgia: amelioration of hypercholesterolemia and fatigue by ubiquinol-10 supplementation. ( 23394493 )
2013
29
Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment. ( 22767283 )
2013
30
Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation. ( 23452285 )
2013
31
Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology. ( 23494902 )
2013
32
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies. ( 23533218 )
2013
33
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency. ( 23727839 )
2013
34
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. ( 22368301 )
2012
35
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. ( 22490322 )
2012
36
Coenzyme Q10 deficiency in patients with Parkinson's disease. ( 22542608 )
2012
37
Error in byline: in heterogeneity of coenzyme q10 deficiency: patient study and literature review. ( 23754058 )
2012
38
Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies. ( 20817046 )
2011
39
Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. ( 21551238 )
2011
40
Coenzyme Q10 deficiency in septic shock patients. ( 22011617 )
2011
41
Coenzyme Q10 deficiency in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is related to fatigue, autonomic and neurocognitive symptoms and is another risk factor explaining the early mortality in ME/CFS due to cardiovascular disorder. ( 20010505 )
2009
42
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? ( 19294900 )
2009
43
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
44
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. ( 19375058 )
2009
45
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. ( 18319074 )
2008
46
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. ( 18579827 )
2008
47
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. ( 17510911 )
2007
48
Human coenzyme Q10 deficiency. ( 17094036 )
2007
49
Coenzyme Q10 deficiency and response to supplementation in pediatric and adolescent migraine. ( 17355497 )
2007
50
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. ( 17412732 )
2007

Variations for Coenzyme Q10 Deficiency Disease

ClinVar genetic disease variations for Coenzyme Q10 Deficiency Disease:

6 (show top 50) (show all 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.8(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh37 Chromosome 4, 84191035: 84191035
2 COQ2 NM_015697.8(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh38 Chromosome 4, 83269882: 83269882
3 COQ2 NM_015697.8(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs121918231 GRCh37 Chromosome 4, 84194751: 84194751
4 COQ2 NM_015697.8(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs121918231 GRCh38 Chromosome 4, 83273598: 83273598
5 COQ2 NM_015697.8(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh37 Chromosome 4, 84194658: 84194658
6 COQ2 NM_015697.8(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh38 Chromosome 4, 83273505: 83273505
7 COQ2 NM_015697.8(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh37 Chromosome 4, 84200234: 84200234
8 COQ2 NM_015697.8(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh38 Chromosome 4, 83279081: 83279081
9 COQ2 NM_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
10 COQ2 NM_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh38 Chromosome 4, 83284533: 83284533
11 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
12 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh38 Chromosome 4, 83264306: 83264306
13 COQ2 NM_015697.8(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh37 Chromosome 4, 84205872: 84205872
14 COQ2 NM_015697.8(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh38 Chromosome 4, 83284719: 83284719
15 COQ2 NM_015697.8(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh37 Chromosome 4, 84191031: 84191031
16 COQ2 NM_015697.8(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh38 Chromosome 4, 83269878: 83269878
17 COQ2 NM_015697.8(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh37 Chromosome 4, 84188850: 84188850
18 COQ2 NM_015697.8(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh38 Chromosome 4, 83267697: 83267697
19 COQ9 NM_020312.3(COQ9): c.625C> G (p.Leu209Val) single nucleotide variant Conflicting interpretations of pathogenicity rs78846023 GRCh38 Chromosome 16, 57458264: 57458264
20 COQ9 NM_020312.3(COQ9): c.625C> G (p.Leu209Val) single nucleotide variant Conflicting interpretations of pathogenicity rs78846023 GRCh37 Chromosome 16, 57492176: 57492176
21 COQ9 NM_020312.3(COQ9): c.864G> C (p.Lys288Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61730662 GRCh38 Chromosome 16, 57459717: 57459717
22 COQ9 NM_020312.3(COQ9): c.864G> C (p.Lys288Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61730662 GRCh37 Chromosome 16, 57493629: 57493629
23 COQ9 NM_020312.3(COQ9): c.921+11C> A single nucleotide variant Conflicting interpretations of pathogenicity rs75908124 GRCh38 Chromosome 16, 57460115: 57460115
24 COQ9 NM_020312.3(COQ9): c.921+11C> A single nucleotide variant Conflicting interpretations of pathogenicity rs75908124 GRCh37 Chromosome 16, 57494027: 57494027
25 COQ9 NM_020312.3(COQ9): c.921+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115677652 GRCh38 Chromosome 16, 57460117: 57460117
26 COQ9 NM_020312.3(COQ9): c.921+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115677652 GRCh37 Chromosome 16, 57494029: 57494029
27 COQ9 NM_020312.3(COQ9): c.74-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181356497 GRCh38 Chromosome 16, 57451027: 57451027
28 COQ9 NM_020312.3(COQ9): c.74-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181356497 GRCh37 Chromosome 16, 57484939: 57484939
29 COQ9 NM_020312.3(COQ9): c.102G> A (p.Pro34=) single nucleotide variant Conflicting interpretations of pathogenicity rs223864 GRCh38 Chromosome 16, 57451068: 57451068
30 COQ9 NM_020312.3(COQ9): c.102G> A (p.Pro34=) single nucleotide variant Conflicting interpretations of pathogenicity rs223864 GRCh37 Chromosome 16, 57484980: 57484980
31 PDSS1 NM_014317.4(PDSS1): c.407T> G (p.Phe136Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77826284 GRCh37 Chromosome 10, 26998637: 26998637
32 PDSS1 NM_014317.4(PDSS1): c.407T> G (p.Phe136Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77826284 GRCh38 Chromosome 10, 26709708: 26709708
33 PDSS1 NM_014317.4(PDSS1): c.589A> G (p.Lys197Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs116424900 GRCh37 Chromosome 10, 27009268: 27009268
34 PDSS1 NM_014317.4(PDSS1): c.589A> G (p.Lys197Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs116424900 GRCh38 Chromosome 10, 26720339: 26720339
35 PDSS1 NM_014317.4(PDSS1): c.162+13A> G single nucleotide variant Benign/Likely benign rs12571799 GRCh37 Chromosome 10, 26991136: 26991136
36 PDSS1 NM_014317.4(PDSS1): c.162+13A> G single nucleotide variant Benign/Likely benign rs12571799 GRCh38 Chromosome 10, 26702207: 26702207
37 PDSS1 NM_014317.4(PDSS1): c.-29C> T single nucleotide variant Conflicting interpretations of pathogenicity rs537781419 GRCh37 Chromosome 10, 26986612: 26986612
38 PDSS1 NM_014317.4(PDSS1): c.-29C> T single nucleotide variant Conflicting interpretations of pathogenicity rs537781419 GRCh38 Chromosome 10, 26697683: 26697683
39 PDSS1 NM_014317.4(PDSS1): c.89G> T (p.Gly30Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17855857 GRCh37 Chromosome 10, 26986729: 26986729
40 PDSS1 NM_014317.4(PDSS1): c.89G> T (p.Gly30Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17855857 GRCh38 Chromosome 10, 26697800: 26697800
41 PDSS2 NM_020381.3(PDSS2): c.7T> C (p.Phe3Leu) single nucleotide variant Benign/Likely benign rs3734675 GRCh37 Chromosome 6, 107780483: 107780483
42 PDSS2 NM_020381.3(PDSS2): c.7T> C (p.Phe3Leu) single nucleotide variant Benign/Likely benign rs3734675 GRCh38 Chromosome 6, 107459279: 107459279
43 PDSS2 NM_020381.3(PDSS2): c.11G> C (p.Arg4Pro) single nucleotide variant Benign/Likely benign rs3734676 GRCh37 Chromosome 6, 107780479: 107780479
44 PDSS2 NM_020381.3(PDSS2): c.11G> C (p.Arg4Pro) single nucleotide variant Benign/Likely benign rs3734676 GRCh38 Chromosome 6, 107459275: 107459275
45 PDSS2 NM_020381.3(PDSS2): c.1046G> A (p.Arg349Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201388841 GRCh37 Chromosome 6, 107475977: 107475977
46 PDSS2 NM_020381.3(PDSS2): c.1046G> A (p.Arg349Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201388841 GRCh38 Chromosome 6, 107154773: 107154773
47 PDSS2 NM_020381.3(PDSS2): c.667G> A (p.Val223Ile) single nucleotide variant Uncertain significance rs35555197 GRCh37 Chromosome 6, 107566787: 107566787
48 PDSS2 NM_020381.3(PDSS2): c.667G> A (p.Val223Ile) single nucleotide variant Uncertain significance rs35555197 GRCh38 Chromosome 6, 107245583: 107245583
49 PDSS1 NM_014317.4(PDSS1): c.163-5del deletion Benign/Likely benign rs34296355 GRCh37 Chromosome 10, 26993601: 26993601
50 PDSS1 NM_014317.4(PDSS1): c.163-5del deletion Benign/Likely benign rs34296355 GRCh38 Chromosome 10, 26704672: 26704672

Expression for Coenzyme Q10 Deficiency Disease

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency Disease.

Pathways for Coenzyme Q10 Deficiency Disease

Pathways related to Coenzyme Q10 Deficiency Disease according to KEGG:

38
# Name Kegg Source Accession
1 Ubiquinone and other terpenoid-quinone biosynthesis hsa00130
2 Terpenoid backbone biosynthesis hsa00900

Pathways related to Coenzyme Q10 Deficiency Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.46 COQ2 COQ3 COQ5 COQ6 COQ7 COQ9

GO Terms for Coenzyme Q10 Deficiency Disease

Cellular components related to Coenzyme Q10 Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 COQ2 COQ3 COQ5 COQ6 COQ7 COQ8A
2 mitochondrial inner membrane GO:0005743 9.63 COQ2 COQ3 COQ5 COQ6 COQ7 COQ9
3 terminal bouton GO:0043195 9.26 POLG SYP
4 extrinsic component of mitochondrial inner membrane GO:0031314 9.1 COQ3 COQ5 COQ6 COQ7 COQ8A COQ8B

Biological processes related to Coenzyme Q10 Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.26 ENO3 POLG
2 ubiquinone biosynthetic process GO:0006744 9.23 COQ2 COQ3 COQ5 COQ6 COQ7 COQ8A
3 DNA biosynthetic process GO:0071897 9.16 POLG TK2
4 glycerol metabolic process GO:0006071 8.96 COQ2 COQ3

Molecular functions related to Coenzyme Q10 Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.23 COQ2 COQ3 COQ5 COQ8A COQ8B POLG
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 8.96 COQ6 COQ7

Sources for Coenzyme Q10 Deficiency Disease

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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