MCID: CNZ001
MIFTS: 34

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 14
Coenzyme Q10 Deficiency 49 36 51 69
Coenzyme Q10 Deficiency, Primary 12 28
Primary Coenzyme Q10 Deficiency 23 24
Primary Coq10 Deficiency 23 24
Coenzyme Q Deficiency 23 24
Ubiquinone Deficiency 23 24
Coq Deficiency 23 24
Coq10 Deficiency, Primary 49
Coq10 Deficiency 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0050730
KEGG 36 H00999
UMLS 69 C1843920

Summaries for Coenzyme Q10 Deficiency Disease

Genetics Home Reference : 24 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 cataract, hyperextensible skin and intellectual disability. 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 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:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 hallmark (90%) HP:0000518
2 hyperextensible skin 31 hallmark (90%) HP:0000974
3 intellectual disability 31 hallmark (90%) HP:0001249
4 joint hyperflexibility 31 hallmark (90%) HP:0005692

UMLS symptoms related to Coenzyme Q10 Deficiency Disease:


muscle weakness, ataxia

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency Disease:

43
# 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 28

Anatomical Context for Coenzyme Q10 Deficiency Disease

MalaCards organs/tissues related to Coenzyme Q10 Deficiency Disease:

38
Brain, Kidney, Skin

Publications for Coenzyme Q10 Deficiency Disease

Articles related to Coenzyme Q10 Deficiency Disease:

(show all 28)
# 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
Increased oxidative stress and coenzyme Q10 deficiency in juvenile fibromyalgia: amelioration of hypercholesterolemia and fatigue by ubiquinol-10 supplementation. ( 23394493 )
2013
6
Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology. ( 23494902 )
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 associated with a mitochondrial DNA depletion syndrome: a case report. ( 19094978 )
2009
10
Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? ( 19294900 )
2009
11
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
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
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. ( 18319074 )
2008
14
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. ( 17412732 )
2007
15
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. ( 17703371 )
2007
16
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. ( 17510911 )
2007
17
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. ( 17242337 )
2007
18
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. ( 16677673 )
2006
19
Coenzyme Q10 deficiency and isolated myopathy. ( 16434667 )
2006
20
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. ( 16400613 )
2006
21
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. ( 15007142 )
2004
22
Primary coenzyme Q10 deficiency and the brain. ( 14695930 )
2003
23
Cerebellar ataxia and coenzyme Q10 deficiency. ( 12682339 )
2003
24
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. ( 11294920 )
2001
25
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. ( 10972372 )
2000
26
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. ( 9559985 )
1998
27
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. ( 9153450 )
1997
28
Primary Coenzyme Q10 Deficiency ( 28125198 )
1993

Variations for Coenzyme Q10 Deficiency Disease

ClinVar genetic disease variations for Coenzyme Q10 Deficiency Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
2 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
3 COQ2 NM_015697.7(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh37 Chromosome 4, 84191035: 84191035
4 COQ2 NM_015697.7(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic rs121918231 GRCh37 Chromosome 4, 84194751: 84194751
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.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh37 Chromosome 4, 84200234: 84200234
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 KEGG:

36
# 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
12.98 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:

# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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