MCID: CNZ001
MIFTS: 35

Coenzyme Q10 Deficiency Disease

Categories: Rare diseases, Metabolic 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, 1 and coenzyme q10 deficiency, primary, 6, 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 cataract and hyperextensible skin

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 cataract 32 hallmark (90%) HP:0000518
2 hyperextensible skin 32 hallmark (90%) HP:0000974
3 intellectual disability 32 hallmark (90%) HP:0001249
4 joint hyperflexibility 32 hallmark (90%) HP:0005692

UMLS symptoms related to Coenzyme Q10 Deficiency Disease:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency Disease:

46
# 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

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 29

Anatomical Context for Coenzyme Q10 Deficiency Disease

MalaCards organs/tissues related to Coenzyme Q10 Deficiency Disease:

41
Brain, Kidney, Skin

Publications for Coenzyme Q10 Deficiency Disease

Articles related to Coenzyme Q10 Deficiency Disease:

(show all 29)
# Title Authors Year
1
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency. ( 29032433 )
2018
2
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. ( 27493029 )
2016
3
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. ( 25564041 )
2015
4
Genetics of coenzyme q10 deficiency. ( 25126048 )
2014
5
Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology. ( 23494902 )
2013
6
Increased oxidative stress and coenzyme Q10 deficiency in juvenile fibromyalgia: amelioration of hypercholesterolemia and fatigue by ubiquinol-10 supplementation. ( 23394493 )
2013
7
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. ( 22368301 )
2012
8
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. ( 22490322 )
2012
9
Coenzyme Q10 deficiency in patients with Parkinson's disease. ( 22542608 )
2012
10
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
11
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? ( 19294900 )
2009
12
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. ( 19375058 )
2009
13
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
14
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. ( 18319074 )
2008
15
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. ( 17510911 )
2007
16
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. ( 17242337 )
2007
17
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. ( 17703371 )
2007
18
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. ( 17412732 )
2007
19
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. ( 16400613 )
2006
20
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. ( 16677673 )
2006
21
Coenzyme Q10 deficiency and isolated myopathy. ( 16434667 )
2006
22
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. ( 15007142 )
2004
23
Cerebellar ataxia and coenzyme Q10 deficiency. ( 12682339 )
2003
24
Primary coenzyme Q10 deficiency and the brain. ( 14695930 )
2003
25
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. ( 11294920 )
2001
26
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. ( 10972372 )
2000
27
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. ( 9559985 )
1998
28
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. ( 9153450 )
1997
29
Primary Coenzyme Q10 Deficiency ( 28125198 )
1993

Variations for Coenzyme Q10 Deficiency Disease

ClinVar genetic disease variations for Coenzyme Q10 Deficiency Disease:

6
(show top 50) (show all 190)
# 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 PDSS2 NM_020381.3(PDSS2): c.1046G> A (p.Arg349Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201388841 GRCh37 Chromosome 6, 107475977: 107475977
14 PDSS2 NM_020381.3(PDSS2): c.1046G> A (p.Arg349Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201388841 GRCh38 Chromosome 6, 107154773: 107154773
15 PDSS2 NM_020381.3(PDSS2): c.667G> A (p.Val223Ile) single nucleotide variant Uncertain significance rs35555197 GRCh37 Chromosome 6, 107566787: 107566787
16 PDSS2 NM_020381.3(PDSS2): c.667G> A (p.Val223Ile) single nucleotide variant Uncertain significance rs35555197 GRCh38 Chromosome 6, 107245583: 107245583
17 PDSS1 NM_014317.4(PDSS1): c.163-5delT deletion Benign/Likely benign rs34296355 GRCh37 Chromosome 10, 26993601: 26993601
18 PDSS1 NM_014317.4(PDSS1): c.163-5delT deletion Benign/Likely benign rs34296355 GRCh38 Chromosome 10, 26704672: 26704672
19 COQ9 NM_020312.3(COQ9): c.79C> G (p.Arg27Gly) single nucleotide variant Uncertain significance rs140264612 GRCh38 Chromosome 16, 57451045: 57451045
20 COQ9 NM_020312.3(COQ9): c.79C> G (p.Arg27Gly) single nucleotide variant Uncertain significance rs140264612 GRCh37 Chromosome 16, 57484957: 57484957
21 COQ9 NM_020312.3(COQ9): c.323T> G (p.Leu108Arg) single nucleotide variant Uncertain significance rs11547480 GRCh37 Chromosome 16, 57486793: 57486793
22 COQ9 NM_020312.3(COQ9): c.323T> G (p.Leu108Arg) single nucleotide variant Uncertain significance rs11547480 GRCh38 Chromosome 16, 57452881: 57452881
23 COQ9 NM_020312.3(COQ9): c.835G> A (p.Asp279Asn) single nucleotide variant Uncertain significance rs76508383 GRCh37 Chromosome 16, 57493600: 57493600
24 COQ9 NM_020312.3(COQ9): c.835G> A (p.Asp279Asn) single nucleotide variant Uncertain significance rs76508383 GRCh38 Chromosome 16, 57459688: 57459688
25 PDSS2 NM_020381.3(PDSS2): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs139493398 GRCh37 Chromosome 6, 107475874: 107475874
26 PDSS2 NM_020381.3(PDSS2): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs139493398 GRCh38 Chromosome 6, 107154670: 107154670
27 COQ2 NM_015697.7(COQ2): c.*269G> A single nucleotide variant Uncertain significance rs73830461 GRCh37 Chromosome 4, 84185083: 84185083
28 COQ2 NM_015697.7(COQ2): c.*269G> A single nucleotide variant Uncertain significance rs73830461 GRCh38 Chromosome 4, 83263930: 83263930
29 COQ2 NM_015697.7(COQ2): c.*257T> C single nucleotide variant Uncertain significance rs746613612 GRCh37 Chromosome 4, 84185095: 84185095
30 COQ2 NM_015697.7(COQ2): c.*257T> C single nucleotide variant Uncertain significance rs746613612 GRCh38 Chromosome 4, 83263942: 83263942
31 COQ2 NM_015697.7(COQ2): c.*153A> G single nucleotide variant Uncertain significance rs886059667 GRCh37 Chromosome 4, 84185199: 84185199
32 COQ2 NM_015697.7(COQ2): c.*153A> G single nucleotide variant Uncertain significance rs886059667 GRCh38 Chromosome 4, 83264046: 83264046
33 COQ2 NM_015697.7(COQ2): c.*151A> G single nucleotide variant Uncertain significance rs757004000 GRCh37 Chromosome 4, 84185201: 84185201
34 COQ2 NM_015697.7(COQ2): c.*151A> G single nucleotide variant Uncertain significance rs757004000 GRCh38 Chromosome 4, 83264048: 83264048
35 COQ2 NM_015697.7(COQ2): c.958C> T (p.Arg320Trp) single nucleotide variant Uncertain significance rs886059669 GRCh37 Chromosome 4, 84188882: 84188882
36 COQ2 NM_015697.7(COQ2): c.958C> T (p.Arg320Trp) single nucleotide variant Uncertain significance rs886059669 GRCh38 Chromosome 4, 83267729: 83267729
37 PDSS2 NM_020381.3(PDSS2): c.*1886_*1887insAA insertion Uncertain significance rs886060915 GRCh37 Chromosome 6, 107473936: 107473937
38 PDSS2 NM_020381.3(PDSS2): c.*1886_*1887insAA insertion Uncertain significance rs886060915 GRCh38 Chromosome 6, 107152732: 107152733
39 PDSS2 NM_020381.3(PDSS2): c.*1886G> A single nucleotide variant Uncertain significance rs886060916 GRCh38 Chromosome 6, 107152733: 107152733
40 PDSS2 NM_020381.3(PDSS2): c.*1886G> A single nucleotide variant Uncertain significance rs886060916 GRCh37 Chromosome 6, 107473937: 107473937
41 PDSS2 NM_020381.3(PDSS2): c.*1586T> A single nucleotide variant Uncertain significance rs11548249 GRCh37 Chromosome 6, 107474237: 107474237
42 PDSS2 NM_020381.3(PDSS2): c.*1586T> A single nucleotide variant Uncertain significance rs11548249 GRCh38 Chromosome 6, 107153033: 107153033
43 PDSS2 NM_020381.3(PDSS2): c.*1433A> G single nucleotide variant Uncertain significance rs79647284 GRCh37 Chromosome 6, 107474390: 107474390
44 PDSS2 NM_020381.3(PDSS2): c.*1433A> G single nucleotide variant Uncertain significance rs79647284 GRCh38 Chromosome 6, 107153186: 107153186
45 PDSS2 NM_020381.3(PDSS2): c.*1335G> A single nucleotide variant Uncertain significance rs116118550 GRCh37 Chromosome 6, 107474488: 107474488
46 PDSS2 NM_020381.3(PDSS2): c.*1335G> A single nucleotide variant Uncertain significance rs116118550 GRCh38 Chromosome 6, 107153284: 107153284
47 PDSS2 NM_020381.3(PDSS2): c.*969T> G single nucleotide variant Uncertain significance rs886060919 GRCh37 Chromosome 6, 107474854: 107474854
48 PDSS2 NM_020381.3(PDSS2): c.*969T> G single nucleotide variant Uncertain significance rs886060919 GRCh38 Chromosome 6, 107153650: 107153650
49 PDSS2 NM_020381.3(PDSS2): c.*385G> A single nucleotide variant Uncertain significance rs886060921 GRCh37 Chromosome 6, 107475438: 107475438
50 PDSS2 NM_020381.3(PDSS2): c.*385G> A single nucleotide variant Uncertain significance rs886060921 GRCh38 Chromosome 6, 107154234: 107154234

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
12.99 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:

# 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:

# 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
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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