MCID: CNZ001
MIFTS: 41

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 53 37 55 40 73
Coenzyme Q10 Deficiency, Primary 12 29 6
Primary Coenzyme Q10 Deficiency 24 25
Primary Coq10 Deficiency 24 25
Coenzyme Q Deficiency 24 25
Ubiquinone Deficiency 24 25
Coq Deficiency 24 25
Coq10 Deficiency, Primary 53
Coq10 Deficiency 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050730
KEGG 37 H00999
UMLS 73 C1843920

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, 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 : 76 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

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
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 hallmark (90%) HP:0001249
2 cataract 32 hallmark (90%) HP:0000518
3 joint hyperflexibility 32 hallmark (90%) HP:0005692
4 hyperextensible skin 32 hallmark (90%) HP:0000974

UMLS symptoms related to Coenzyme Q10 Deficiency Disease:


ataxia, muscle weakness

Drugs & Therapeutics for Coenzyme Q10 Deficiency Disease

Search Clinical Trials , 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 29

Anatomical Context for Coenzyme Q10 Deficiency Disease

MalaCards organs/tissues related to Coenzyme Q10 Deficiency Disease:

41
Brain, Kidney, Skin, Heart, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency Disease

Articles related to Coenzyme Q10 Deficiency Disease:

(show top 50) (show all 61)
# Title Authors Year
1
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency. ( 29032433 )
2018
2
Intracellular cholesterol accumulation and coenzyme Q10 deficiency in Familial Hypercholesterolemia. ( 30292637 )
2018
3
The dilemma of diagnosing coenzyme Q10 deficiency in muscle. ( 29530532 )
2018
4
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. ( 29560582 )
2018
5
Molecular diagnosis of coenzyme Q10 deficiency: an update. ( 29781757 )
2018
6
Clinical syndromes associated with Coenzyme Q10 deficiency. ( 30030365 )
2018
7
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes. ( 30225196 )
2018
8
Increased oxidative stress and coenzyme Q10 deficiency in centenarians. ( 30279624 )
2018
9
Biochemical Assessment of Coenzyme Q10 Deficiency. ( 28273876 )
2017
10
Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene. ( 28465093 )
2017
11
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency. ( 28472853 )
2017
12
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. ( 27493029 )
2016
13
Coenzyme Q10 Deficiency. ( 27232365 )
2016
14
Statins barely touch the heart but bite the kidneys after cardiac surgery. Coenzyme Q10 deficiency in the dock? ( 27868016 )
2016
15
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. ( 25564041 )
2015
16
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. ( 25802402 )
2015
17
Molecular diagnosis of coenzyme Q10 deficiency. ( 26144946 )
2015
18
NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME q10 DEFICIENCY. ( 26349199 )
2015
19
Genetics of coenzyme q10 deficiency. ( 25126048 )
2014
20
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. ( 24140869 )
2014
21
Clinical presentations of coenzyme q10 deficiency syndrome. ( 25126046 )
2014
22
Biochemical diagnosis of coenzyme q10 deficiency. ( 25126047 )
2014
23
Invertebrate models for coenzyme q10 deficiency. ( 25126050 )
2014
24
An overview of current mouse models recapitulating coenzyme q10 deficiency syndrome. ( 25126051 )
2014
25
Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology. ( 23494902 )
2013
26
Increased oxidative stress and coenzyme Q10 deficiency in juvenile fibromyalgia: amelioration of hypercholesterolemia and fatigue by ubiquinol-10 supplementation. ( 23394493 )
2013
27
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
28
Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation. ( 23452285 )
2013
29
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies. ( 23533218 )
2013
30
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency. ( 23727839 )
2013
31
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. ( 22368301 )
2012
32
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. ( 22490322 )
2012
33
Coenzyme Q10 deficiency in patients with Parkinson's disease. ( 22542608 )
2012
34
Error in byline: in heterogeneity of coenzyme q10 deficiency: patient study and literature review. ( 23754058 )
2012
35
Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies. ( 20817046 )
2011
36
Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts. ( 21551238 )
2011
37
Coenzyme Q10 deficiency in septic shock patients. ( 22011617 )
2011
38
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
39
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? ( 19294900 )
2009
40
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. ( 19375058 )
2009
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
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. ( 18319074 )
2008
43
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. ( 18579827 )
2008
44
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. ( 17510911 )
2007
45
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. ( 17703371 )
2007
46
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. ( 17412732 )
2007
47
Human coenzyme Q10 deficiency. ( 17094036 )
2007
48
Coenzyme Q10 deficiency and response to supplementation in pediatric and adolescent migraine. ( 17355497 )
2007
49
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. ( 16400613 )
2006
50
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. ( 16677673 )
2006

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_015697.7(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh37 Chromosome 4, 84191035: 84191035
2 COQ2 NM_015697.7(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh38 Chromosome 4, 83269882: 83269882
3 COQ2 NM_015697.7(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic rs121918231 GRCh37 Chromosome 4, 84194751: 84194751
4 COQ2 NM_015697.7(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic rs121918231 GRCh38 Chromosome 4, 83273598: 83273598
5 COQ2 NM_015697.7(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh37 Chromosome 4, 84194658: 84194658
6 COQ2 NM_015697.7(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh38 Chromosome 4, 83273505: 83273505
7 COQ2 NM_015697.7(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh37 Chromosome 4, 84200234: 84200234
8 COQ2 NM_015697.7(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh38 Chromosome 4, 83279081: 83279081
9 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
10 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh38 Chromosome 4, 83284533: 83284533
11 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
12 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh38 Chromosome 4, 83264306: 83264306
13 COQ2 NM_015697.7(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh37 Chromosome 4, 84205872: 84205872
14 COQ2 NM_015697.7(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh38 Chromosome 4, 83284719: 83284719
15 COQ2 NM_015697.7(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh37 Chromosome 4, 84191031: 84191031
16 COQ2 NM_015697.7(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh38 Chromosome 4, 83269878: 83269878
17 COQ2 NM_015697.7(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh37 Chromosome 4, 84188850: 84188850
18 COQ2 NM_015697.7(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.163-5delT deletion Benign/Likely benign rs34296355 GRCh37 Chromosome 10, 26993601: 26993601
50 PDSS1 NM_014317.4(PDSS1): c.163-5delT 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:

37
# 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
10.38 COQ2 COQ3 COQ5 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 mitochondrial inner membrane GO:0005743 9.63 COQ2 COQ3 COQ4 COQ5 COQ7 COQ9
2 mitochondrion GO:0005739 9.61 COQ2 COQ3 COQ4 COQ5 COQ7 COQ8A
3 mitochondrial matrix GO:0005759 9.5 COQ3 COQ5 TK2
4 terminal bouton GO:0043195 9.26 POLG SYP
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.02 COQ3 COQ4 COQ5 COQ7 COQ8A

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 9.17 COQ2 COQ3 COQ4 COQ5 COQ7 COQ8A
2 DNA biosynthetic process GO:0071897 9.16 POLG TK2
3 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 9.1 COQ2 COQ3 COQ5 COQ8A POLG TK2

Sources for Coenzyme Q10 Deficiency Disease

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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