MCID: CNZ001
MIFTS: 48

Coenzyme Q10 Deficiency Disease

Categories: Genetic diseases, Metabolic diseases, Neuronal 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 59 37 55 40 72
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
Coq10 Deficiency 53 59
Coq Deficiency 24 25
Coq10 Deficiency, Primary 53

Characteristics:

Orphanet epidemiological data:

59
coenzyme q10 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050730
KEGG 37 H00999
UMLS via Orphanet 73 C1843920
Orphanet 59 ORPHA35656
UMLS 72 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. The severity, combination of signs and symptoms, and age of onset of primary coenzyme Q10 deficiency vary widely. In the most severe cases, the condition becomes apparent in infancy and causes severe brain dysfunction combined with muscle weakness (encephalomyopathy) and the failure of other body systems. These problems can be life-threatening. The mildest cases of primary coenzyme Q10 deficiency can begin as late as a person's sixties and often cause cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Other neurological abnormalities that can occur in primary coenzyme Q10 deficiency include seizures, intellectual disability, poor muscle tone (hypotonia), involuntary muscle contractions (dystonia), progressive muscle stiffness (spasticity), abnormal eye movements (nystagmus), vision loss caused by degeneration (atrophy) of the optic nerves or breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and sensorineural hearing loss (which is caused by abnormalities in the inner ear). The neurological problems gradually get worse unless treated with coenzyme Q10 supplementation. A type of kidney dysfunction called nephrotic syndrome is another common feature of primary coenzyme Q10 deficiency. It can occur with or without neurological abnormalities. Nephrotic syndrome occurs when damage to the kidneys impairs their function, which allows protein from the blood to pass into the urine (proteinuria). Other signs and symptoms of nephrotic syndrome include increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells in the body (anemia), abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with nephrotic syndrome. If not treated with coenzyme Q10 supplementation, affected individuals eventually develop irreversible kidney failure (end-stage renal disease). A type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy) can also occur in primary coenzyme Q10 deficiency.

MalaCards based summary : Coenzyme Q10 Deficiency Disease, also known as coenzyme q10 deficiency, is related to coenzyme q10 deficiency, primary, 4 and multiple acyl-coa dehydrogenase deficiency, 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. The drugs Ethanol and Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and kidney, 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.

KEGG : 37
Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem disease including encephalopathy and nephropathy. It has been shown that mutations in some genes involved in CoQ10 biosynthesis cause primary CoQ10 deficiency.

Wikipedia : 75 Coenzyme Q, also known as ubiquinone, is a coenzyme family that is ubiquitous in animals and most... 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 top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 4 32.2 TPP1 SYP COQ9 COQ8A COQ7 COQ5
2 multiple acyl-coa dehydrogenase deficiency 30.4 COQ9 COQ8A COQ6 COQ4
3 mitochondrial metabolism disease 30.3 TK2 POLG COQ2
4 aceruloplasminemia 28.9 SYP SYNE1 SACS POLG COQ8A COQ2
5 coenzyme q10 deficiency, primary, 6 13.1
6 coenzyme q10 deficiency, primary, 5 13.1
7 coenzyme q10 deficiency, primary, 7 13.0
8 coenzyme q10 deficiency, primary, 2 13.0
9 coenzyme q10 deficiency, primary, 3 13.0
10 coenzyme q10 deficiency, primary, 1 12.9
11 coenzyme q10 deficiency, primary, 8 12.9
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.5 TK2 POLG
13 autosomal recessive disease 10.3
14 myoglobinuria 10.3
15 hypercholesterolemia, familial, 1 10.2
16 myoglobinuria, recurrent 10.2
17 nephrotic syndrome 10.2
18 hypertrophic cardiomyopathy 10.2
19 leigh syndrome with nephrotic syndrome 10.2
20 leigh syndrome 10.2
21 retinitis pigmentosa 10.2
22 branchiootic syndrome 1 10.2
23 neuroretinitis 10.2
24 retinitis 10.2
25 autosomal dominant cerebellar ataxia 10.1
26 myopathy 10.1
27 multiple system atrophy 1 10.0
28 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0
29 3-methylglutaconic aciduria, type iii 10.0
30 ataxia and polyneuropathy, adult-onset 10.0
31 alacrima, achalasia, and mental retardation syndrome 10.0
32 sensorineural hearing loss 10.0
33 dystonia 10.0
34 end stage renal failure 10.0
35 mitochondrial disorders 10.0
36 encephalopathy 10.0
37 hypotonia 10.0
38 spasticity 10.0
39 kearns-sayre syndrome 10.0 SACS POLG COQ8A
40 lactic acidosis 10.0
41 migraine with or without aura 1 10.0
42 ataxia-telangiectasia 10.0
43 abdominal obesity-metabolic syndrome 1 10.0
44 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
45 west syndrome 10.0
46 mitochondrial dna depletion syndrome 10.0
47 oligohydramnios 10.0
48 familial hypercholesterolemia 10.0
49 toxic shock syndrome 10.0
50 hypogonadism 10.0

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
4 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.9 CALCA COQ2 COQ3 COQ4 COQ5 COQ6

Drugs & Therapeutics for Coenzyme Q10 Deficiency Disease

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
3 Complement System Proteins Phase 3
4 Lecithin Phase 3
5 Ubiquinone Phase 3
6 Vitamins Phase 3
7 Nutrients Phase 3
8 Micronutrients Phase 3
9 Trace Elements Phase 3
10 Omega 3 Fatty Acid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10 Completed NCT02333305 Phase 3
2 Efficacy of Coenzyme Q10 Supplementation on Multi-Organ Dysfunction in Severely Burned Patients Not yet recruiting NCT03968640 Phase 3
3 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
4 Pharmacokinetic Study on Three Formulations of Coenzyme Q10 With Different Carriers Not yet recruiting NCT04035525

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
Heart, Brain, Kidney, Eye, Cerebellum, Skin, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency Disease

Articles related to Coenzyme Q10 Deficiency Disease:

(show top 50) (show all 166)
# Title Authors PMID Year
1
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. 9 38 4
16400613 2006
2
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. 38 4
27493029 2016
3
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 38 4
25564041 2015
4
Molecular diagnosis of coenzyme Q10 deficiency. 38 4
26144946 2015
5
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. 38 4
24140869 2014
6
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. 38 4
23631824 2013
7
A novel mutation in COQ2 leading to fatal infantile multisystem disease. 38 4
23343605 2013
8
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. 38 4
22490322 2012
9
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 38 4
22368301 2012
10
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 38 4
19375058 2009
11
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 38 4
18579827 2008
12
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 38 4
18319074 2008
13
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. 38 4
10972372 2000
14
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 4
26818466 2016
15
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 4
27106809 2016
16
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. 4
26081641 2016
17
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 4
25967120 2016
18
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. 4
26084283 2015
19
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 4
26185144 2015
20
Preparation and characterization of human ADCK3, a putative atypical kinase. 4
25540914 2015
21
Is there a link between COQ6 and schwannomatosis? 4
25835193 2015
22
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 4
25658047 2015
23
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 4
25091424 2015
24
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 4
25498144 2015
25
Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. 4
25339443 2014
26
A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3. 4
25216398 2014
27
Mutant COQ2 in multiple-system atrophy. 4
24988567 2014
28
Mutant COQ2 in multiple-system atrophy. 4
24988568 2014
29
Mutant COQ2 in multiple-system atrophy. 4
24988569 2014
30
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. 4
24218524 2014
31
Coenzyme Q10 as a therapy for mitochondrial disease. 4
24495877 2014
32
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 4
24048965 2014
33
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 4
24270420 2013
34
Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). 4
23816342 2013
35
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 4
24164873 2013
36
The clinical maze of mitochondrial neurology. 4
23835535 2013
37
Mutations in COQ2 in familial and sporadic multiple-system atrophy. 4
23758206 2013
38
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. 4
23349334 2013
39
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 4
22494076 2012
40
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 4
21873089 2012
41
Renal involvement in mitochondrial cytopathies. 4
21656172 2012
42
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 4
22036850 2012
43
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency. 4
21723727 2012
44
Coenzyme Q deficiency in muscle. 4
21844807 2011
45
Coenzyme Q biosynthesis: Coq6 is required for the C5-hydroxylation reaction and substrate analogs rescue Coq6 deficiency. 4
21944752 2011
46
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 4
21540551 2011
47
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 4
20495179 2010
48
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 4
20580948 2010
49
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. 4
20689595 2010
50
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. 4
19440741 2010

Variations for Coenzyme Q10 Deficiency Disease

ClinVar genetic disease variations for Coenzyme Q10 Deficiency Disease:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2): c.1197del (p.Asn401fs) deletion Pathogenic rs750710187 4:84185421-84185421 4:83264268-83264268
2 COQ2 NM_015697.8(COQ2): c.905C> T (p.Ala302Val) single nucleotide variant Pathogenic rs762616589 4:84191020-84191020 4:83269867-83269867
3 COQ2 NM_015697.8(COQ2): c.545T> G (p.Met182Arg) single nucleotide variant Pathogenic rs1057519348 4:84200126-84200126 4:83278973-83278973
4 COQ2 NM_015697.8(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 4:84191035-84191035 4:83269882-83269882
5 COQ2 NM_015697.8(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 4:84200234-84200234 4:83279081-83279081
6 COQ2 NM_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 4:84205686-84205686 4:83284533-83284533
7 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 4:84185459-84185459 4:83264306-83264306
8 COQ2 NM_015697.8(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs121918231 4:84194751-84194751 4:83273598-83273598
9 COQ9 NM_020312.4(COQ9): c.625C> G (p.Leu209Val) single nucleotide variant Conflicting interpretations of pathogenicity rs78846023 16:57492176-57492176 16:57458264-57458264
10 COQ9 NM_020312.4(COQ9): c.864G> C (p.Lys288Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61730662 16:57493629-57493629 16:57459717-57459717
11 COQ9 NM_020312.4(COQ9): c.921+11C> A single nucleotide variant Conflicting interpretations of pathogenicity rs75908124 16:57494027-57494027 16:57460115-57460115
12 COQ9 NM_020312.4(COQ9): c.921+13C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115677652 16:57494029-57494029 16:57460117-57460117
13 COQ9 NM_020312.4(COQ9): c.74-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs181356497 16:57484939-57484939 16:57451027-57451027
14 COQ9 NM_020312.4(COQ9): c.102G> A (p.Pro34=) single nucleotide variant Conflicting interpretations of pathogenicity rs223864 16:57484980-57484980 16:57451068-57451068
15 PDSS1 NM_014317.5(PDSS1): c.407T> G (p.Phe136Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs77826284 10:26998637-26998637 10:26709708-26709708
16 PDSS1 NM_014317.5(PDSS1): c.589A> G (p.Lys197Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs116424900 10:27009268-27009268 10:26720339-26720339
17 PDSS2 NM_020381.4(PDSS2): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs139493398 6:107475874-107475874 6:107154670-107154670
18 PDSS1 NM_014317.4(PDSS1): c.-29C> T single nucleotide variant Conflicting interpretations of pathogenicity rs537781419 10:26986612-26986612 10:26697683-26697683
19 PDSS1 NM_014317.5(PDSS1): c.89G> T (p.Gly30Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17855857 10:26986729-26986729 10:26697800-26697800
20 PDSS2 NM_020381.4(PDSS2): c.1046G> A (p.Arg349Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201388841 6:107475977-107475977 6:107154773-107154773
21 COQ9 NM_020312.4(COQ9): c.79C> G (p.Arg27Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140264612 16:57484957-57484957 16:57451045-57451045
22 PDSS2 NM_020381.4(PDSS2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs145540533 6:107475822-107475822 6:107154618-107154618
23 PDSS1 NM_014317.5(PDSS1): c.243C> T (p.Thr81=) single nucleotide variant Conflicting interpretations of pathogenicity rs762902803 10:26994230-26994230 10:26705301-26705301
24 PDSS1 NM_014317.5(PDSS1): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs149274703 10:26998656-26998656 10:26709727-26709727
25 PDSS1 NM_014317.5(PDSS1): c.130-10G> T single nucleotide variant Conflicting interpretations of pathogenicity rs551306397 10:26991081-26991081 10:26702152-26702152
26 COQ9 NM_020312.3(COQ9): c.73+9delG deletion Conflicting interpretations of pathogenicity rs749532852 16:57481499-57481499 16:57447587-57447587
27 COQ9 NM_020312.4(COQ9): c.315G> A (p.Thr105=) single nucleotide variant Conflicting interpretations of pathogenicity rs201238241 16:57486785-57486785 16:57452873-57452873
28 COQ2 NM_015697.8(COQ2): c.288dup (p.Ala97fs) duplication Uncertain significance 4:84205779-84205779 4:83284632-83284632
29 COQ9 NM_020312.4(COQ9): c.812G> A (p.Arg271His) single nucleotide variant Uncertain significance rs774033422 16:57493577-57493577 16:57459665-57459665
30 PDSS1 NM_014317.5(PDSS1): c.860T> C (p.Val287Ala) single nucleotide variant Uncertain significance rs367783149 10:27024197-27024197 10:26735268-26735268
31 PDSS1 NM_014317.4(PDSS1): c.1027-7_1027-6delTT deletion Uncertain significance rs527296865 10:27031419-27031420 10:26742490-26742491
32 PDSS1 NM_014317.5(PDSS1): c.941C> T (p.Ser314Leu) single nucleotide variant Uncertain significance rs766516366 10:27024423-27024423 10:26735494-26735494
33 PDSS1 NM_014317.5(PDSS1): c.*110_*113dup duplication Uncertain significance rs144094307 10:27035512-27035515 10:26746583-26746586
34 PDSS1 NM_014317.5(PDSS1): c.97G> A (p.Gly33Arg) single nucleotide variant Uncertain significance rs886046933 10:26986737-26986737 10:26697808-26697808
35 PDSS1 NM_014317.5(PDSS1): c.129+7T> C single nucleotide variant Uncertain significance rs886046934 10:26986776-26986776 10:26697847-26697847
36 COQ9 NM_020312.4(COQ9): c.-25C> G single nucleotide variant Uncertain significance rs547268811 16:57481393-57481393 16:57447481-57447481
37 COQ9 NM_020312.4(COQ9): c.-25C> T single nucleotide variant Uncertain significance rs547268811 16:57481393-57481393 16:57447481-57447481
38 COQ9 NM_020312.4(COQ9): c.240C> G (p.Pro80=) single nucleotide variant Uncertain significance rs2301773 16:57485118-57485118 16:57451206-57451206
39 COQ9 NM_020312.4(COQ9): c.404C> T (p.Ala135Val) single nucleotide variant Uncertain significance rs886052180 16:57490441-57490441 16:57456529-57456529
40 COQ9 NM_020312.4(COQ9): c.*100C> T single nucleotide variant Uncertain significance rs373048666 16:57494636-57494636 16:57460724-57460724
41 COQ9 NM_020312.4(COQ9): c.*630A> G single nucleotide variant Uncertain significance rs886052184 16:57495166-57495166 16:57461254-57461254
42 COQ9 NM_020312.4(COQ9): c.*134A> G single nucleotide variant Uncertain significance rs886052182 16:57494670-57494670 16:57460758-57460758
43 COQ9 NM_020312.4(COQ9): c.*492C> T single nucleotide variant Uncertain significance rs550304608 16:57495028-57495028 16:57461116-57461116
44 COQ9 NM_020312.4(COQ9): c.*565G> T single nucleotide variant Uncertain significance rs886052183 16:57495101-57495101 16:57461189-57461189
45 COQ9 NM_001308347.1(CIAPIN1): c.-183G> C single nucleotide variant Uncertain significance rs886052178 16:57481381-57481381 16:57447469-57447469
46 COQ9 NM_020312.4(COQ9): c.305G> A (p.Arg102His) single nucleotide variant Uncertain significance rs748239782 16:57486775-57486775 16:57452863-57452863
47 COQ9 NM_020312.4(COQ9): c.337G> A (p.Ala113Thr) single nucleotide variant Uncertain significance rs377307935 16:57486807-57486807 16:57452895-57452895
48 COQ9 NM_020312.4(COQ9): c.*74G> A single nucleotide variant Uncertain significance rs886052181 16:57494610-57494610 16:57460698-57460698
49 COQ9 NM_020312.4(COQ9): c.*622A> G single nucleotide variant Uncertain significance rs534696904 16:57495158-57495158 16:57461246-57461246
50 PDSS1 NM_014317.5(PDSS1): c.*47A> G single nucleotide variant Uncertain significance rs200899328 10:27035449-27035449 10:26746520-26746520

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
10.46 COQ9 COQ7 COQ6 COQ5 COQ3 COQ2

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 9.73 TK2 SACS POLG COQ9 COQ8B COQ8A
2 mitochondrial inner membrane GO:0005743 9.7 COQ9 COQ7 COQ6 COQ5 COQ4 COQ3
3 terminal bouton GO:0043195 9.26 SYP POLG
4 extrinsic component of mitochondrial inner membrane GO:0031314 9.17 COQ8B COQ8A COQ7 COQ6 COQ5 COQ4

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 9.28 COQ9 COQ8B COQ8A COQ7 COQ6 COQ5
2 aging GO:0007568 9.26 POLG ENO3
3 DNA biosynthetic process GO:0071897 9.16 TK2 POLG
4 glycerol metabolic process GO:0006071 8.96 COQ3 COQ2

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 TK2 POLR3B POLG COQ8B COQ8A COQ5
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 COQ7 COQ6

Sources for Coenzyme Q10 Deficiency Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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