COQ10
MCID: CNZ001
MIFTS: 34

Coenzyme Q10 Deficiency Disease (COQ10) malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Coenzyme Q10 Deficiency Disease

Aliases & Descriptions for Coenzyme Q10 Deficiency Disease:

Name: Coenzyme Q10 Deficiency Disease 12 14
Coenzyme Q10 Deficiency 50 24 52 69
Primary Coenzyme Q10 Deficiency 23 25 29
Primary Coq10 Deficiency 23 25
Coenzyme Q Deficiency 23 25
Ubiquinone Deficiency 23 25
Coq Deficiency 23 25
Coenzyme Q10 Deficiency, Primary 12
Coq10 Deficiency, Primary 50
Coq10 Deficiency 50
Coq10 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050730

Summaries for Coenzyme Q10 Deficiency Disease

Genetics Home Reference : 25 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, 1 and coenzyme q10 deficiency, primary, 3, and has symptoms including intellectual disability, cataract and joint hyperflexibility. An important gene associated with Coenzyme Q10 Deficiency Disease is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are Metabolism and Ubiquinol biosynthesis. The drugs Simvastatin and Quinidine have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotype is adipose tissue.

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

GeneReviews: NBK410087

Related Diseases for Coenzyme Q10 Deficiency Disease

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:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 cataract 32 HP:0000518
3 joint hyperflexibility 32 HP:0005692
4 hyperextensible skin 32 HP:0000974

UMLS symptoms related to Coenzyme Q10 Deficiency Disease:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 COQ2 POLG TK2

Drugs & Therapeutics for Coenzyme Q10 Deficiency Disease

Drugs for Coenzyme Q10 Deficiency Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 53)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2
Quinidine Approved Phase 3 56-54-2 441074
3
Menthol Approved Phase 3 2216-51-5 16666
4
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
5
Guaifenesin Approved, Vet_approved Phase 3 93-14-1 3516
6
Cholecalciferol Approved, Nutraceutical Phase 3 67-97-0 6221 10883523 5280795
7
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
8 vitamin d Phase 3
9 Ubiquinone Phase 3,Phase 2
10 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
11 Muscarinic Antagonists Phase 3
12 Cholinergic Agents Phase 3
13 Cholinergic Antagonists Phase 3
14 Adrenergic Agents Phase 3
15 Adrenergic Antagonists Phase 3
16 Sodium Channel Blockers Phase 3
17 Adrenergic alpha-Antagonists Phase 3
18 Neurotransmitter Agents Phase 3
19 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
20 Cytochrome P-450 Enzyme Inhibitors Phase 3
21 Trace Elements Phase 3,Phase 2
22 Diuretics, Potassium Sparing Phase 3
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
24 Ergocalciferols Phase 3
25 Anti-Arrhythmia Agents Phase 3
26 Vitamins Phase 3,Phase 2
27 Hypolipidemic Agents Phase 3
28 Excitatory Amino Acid Antagonists Phase 3
29 Excitatory Amino Acids Phase 3
30 Anti-Infective Agents Phase 3
31 Anticholesteremic Agents Phase 3
32 Antimalarials Phase 3
33 Quinidine gluconate Phase 3
34 Lipid Regulating Agents Phase 3
35 Antimetabolites Phase 3
36 Respiratory System Agents Phase 3
37 Micronutrients Phase 3,Phase 2
38 Bone Density Conservation Agents Phase 3
39 Antitussive Agents Phase 3
40 Antiparasitic Agents Phase 3
41 Antiprotozoal Agents Phase 3
42
Coenzyme Q10 Experimental, Nutraceutical Phase 3,Phase 2 303-98-0 5281915
43 Vitamin D2 Nutraceutical Phase 3
44 Calciferol Nutraceutical Phase 3
45
Creatine Approved, Nutraceutical Phase 2 57-00-1 586
46 Protective Agents Phase 2
47 Antioxidants Phase 2
48 Soy Bean Nutraceutical Phase 2
49
Calcium carbonate Approved 471-34-1
50 Gastrointestinal Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase III Trial of Coenzyme Q10 in Mitochondrial Disease Completed NCT00432744 Phase 3
2 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3
3 Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS Completed NCT00573443 Phase 3
4 Clinical Trial of High Dose CoQ10 in ALS Completed NCT00243932 Phase 2
5 ALS Reversals - Lunasin Regimen Active, not recruiting NCT02709330 Phase 2
6 A Prospective Open-label Comparison of Two Vitamin D3 Repletion Strategies in Vitamin D Deficient Patients Completed NCT01650883
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
9 Aneuploidy Rates in Advanced Maternal Age Patients Supplemented With Coenzyme Q10 (CoQ10) Versus Those That Are Not: a Pilot Study Recruiting NCT02119117

Search NIH Clinical Center for Coenzyme Q10 Deficiency Disease

Genetic Tests for Coenzyme Q10 Deficiency Disease

Genetic tests related to Coenzyme Q10 Deficiency Disease:

id Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary 29
2 Coenzyme Q10 Deficiency 24

Anatomical Context for Coenzyme Q10 Deficiency Disease

MalaCards organs/tissues related to Coenzyme Q10 Deficiency Disease:

39
Kidney, Brain, Skin

Publications for Coenzyme Q10 Deficiency Disease

Variations for Coenzyme Q10 Deficiency Disease

ClinVar genetic disease variations for Coenzyme Q10 Deficiency Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.7(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh37 Chromosome 4, 84191035: 84191035
2 COQ2 NM_015697.7(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic rs121918231 GRCh37 Chromosome 4, 84194751: 84194751
3 COQ2 NM_015697.7(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh37 Chromosome 4, 84194658: 84194658
4 COQ2 NM_015697.7(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh37 Chromosome 4, 84200234: 84200234
5 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
6 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
7 COQ2 NM_015697.7(COQ2): c.1197delT (p.Asn401IlefsTer15) deletion Pathogenic rs750710187 GRCh38 Chromosome 4, 83264268: 83264268
8 COQ2 NM_015697.7(COQ2): c.905C> T (p.Ala302Val) single nucleotide variant Pathogenic rs762616589 GRCh38 Chromosome 4, 83269867: 83269867
9 COQ2 NM_015697.7(COQ2): c.545T> G (p.Met182Arg) single nucleotide variant Pathogenic rs1057519348 GRCh38 Chromosome 4, 83278973: 83278973

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 COQ2 COQ9 ENO3 POLG TK2
2
Show member pathways
9.98 COQ2 COQ9

GO Terms for Coenzyme Q10 Deficiency Disease

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 COQ2 COQ9 POLG TK2

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

id Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.16 ENO3 POLG
2 DNA biosynthetic process GO:0071897 8.96 POLG TK2
3 ubiquinone biosynthetic process GO:0006744 8.62 COQ2 COQ9

Sources for Coenzyme Q10 Deficiency Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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