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 52 58 36 54 39 71
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 52 58
Coq Deficiency 24 25
Coq10 Deficiency, Primary 52

Characteristics:

Orphanet epidemiological data:

58
coenzyme q10 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050730
KEGG 36 H00999
UMLS via Orphanet 72 C1843920
Orphanet 58 ORPHA35656
UMLS 71 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, 1 and coenzyme q10 deficiency, primary, 2, 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 : 36 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 : 74 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 97)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 1 34.5 COQ8A COQ2 APTX
2 coenzyme q10 deficiency, primary, 2 33.6 PDSS1 COQ8B COQ8A COQ6 COQ4
3 coenzyme q10 deficiency, primary, 6 33.4 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
4 coenzyme q10 deficiency, primary, 5 32.9 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
5 coenzyme q10 deficiency, primary, 3 32.8 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
6 coenzyme q10 deficiency, primary, 7 31.7 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
7 leigh syndrome with nephrotic syndrome 30.6 PDSS2 COQ2
8 coenzyme q10 deficiency, primary, 4 30.5 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
9 mitochondrial dna depletion syndrome 30.3 TK2 POLG
10 nephrotic syndrome 30.1 PDSS2 COQ8B COQ6
11 autosomal dominant cerebellar ataxia 29.8 TK2 POLG APTX
12 aceruloplasminemia 29.6 POLG COQ9 COQ8A COQ2 APTX
13 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 29.6 COQ8A APTX
14 mitochondrial myopathy 29.5 TK2 POLG COQ9 COQ8A COQ2
15 hereditary ataxia 29.2 PDSS1 COQ8A COQ2 APTX
16 multiple acyl-coa dehydrogenase deficiency 28.9 POLG PDSS2 PDSS1 COQ9 COQ8A COQ6
17 cardiofaciocutaneous syndrome 1 28.9 PDSS2 PDSS1 COQ8A COQ2 APTX
18 mitochondrial encephalomyopathy 28.5 POLG PDSS2 PDSS1 COQ9 COQ8A COQ4
19 leigh syndrome 28.4 POLG PDSS2 PDSS1 COQ9 COQ8A COQ6
20 mitochondrial metabolism disease 25.4 TK2 POLG PDSS2 PDSS1 COQ9 COQ8B
21 coenzyme q10 deficiency, primary, 8 12.9
22 autosomal recessive disease 10.3
23 myoglobinuria 10.3
24 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.3 TK2 POLG
25 mitochondrial dna maintenance defects 10.3 TK2 POLG
26 hypercholesterolemia, familial, 1 10.2
27 myoglobinuria, recurrent 10.2
28 hypertrophic cardiomyopathy 10.2
29 hypotonia 10.2
30 retinitis pigmentosa 10.2
31 neuroretinitis 10.2
32 retinitis 10.2
33 myopathy 10.1
34 multiple system atrophy 1 10.0
35 corpus callosum, agenesis of 10.0
36 3-methylglutaconic aciduria, type iii 10.0
37 ataxia and polyneuropathy, adult-onset 10.0
38 alacrima, achalasia, and mental retardation syndrome 10.0
39 sensorineural hearing loss 10.0
40 microcephaly 10.0
41 dystonia 10.0
42 inherited metabolic disorder 10.0
43 mitochondrial disorders 10.0
44 spasticity 10.0
45 vitamin e, familial isolated deficiency of 10.0 COQ8A APTX
46 branchiootic syndrome 1 10.0
47 lactic acidosis 10.0
48 frasier syndrome 10.0 COQ8B COQ2
49 mitochondrial dna depletion syndrome 7 10.0 POLG APTX
50 migraine with or without aura 1 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
4 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974

UMLS symptoms related to Coenzyme Q10 Deficiency Disease:


ataxia, muscle weakness

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 COQ2 COQ4 COQ6 COQ7 COQ8B COQ9

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 Lecithin Phase 3
4 Complement System Proteins Phase 3
5 Vitamins Phase 3
6 Trace Elements Phase 3
7 Nutrients Phase 3
8 Micronutrients Phase 3
9 Ubiquinone 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:

40
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 170)
# Title Authors PMID Year
1
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. 54 61 24
16400613 2006
2
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. 61 24
27493029 2016
3
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 61 24
25564041 2015
4
Molecular diagnosis of coenzyme Q10 deficiency. 61 24
26144946 2015
5
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. 61 24
24140869 2014
6
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. 61 24
23631824 2013
7
A novel mutation in COQ2 leading to fatal infantile multisystem disease. 61 24
23343605 2013
8
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. 61 24
22490322 2012
9
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 61 24
22368301 2012
10
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 61 24
19375058 2009
11
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 61 24
18579827 2008
12
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 61 24
18319074 2008
13
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. 61 24
10972372 2000
14
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 24
26818466 2016
15
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 24
27106809 2016
16
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. 24
26081641 2016
17
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 24
25967120 2016
18
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. 24
26084283 2015
19
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 24
26185144 2015
20
Is there a link between COQ6 and schwannomatosis? 24
25835193 2015
21
Preparation and characterization of human ADCK3, a putative atypical kinase. 24
25540914 2015
22
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 24
25658047 2015
23
Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 24
25498144 2015
24
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 24
25091424 2015
25
Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis. 24
25339443 2014
26
A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3. 24
25216398 2014
27
Mutant COQ2 in multiple-system atrophy. 24
24988567 2014
28
Mutant COQ2 in multiple-system atrophy. 24
24988568 2014
29
Mutant COQ2 in multiple-system atrophy. 24
24988569 2014
30
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. 24
24218524 2014
31
Coenzyme Q10 as a therapy for mitochondrial disease. 24
24495877 2014
32
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 24
24048965 2014
33
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24
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). 24
23816342 2013
35
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 24
24164873 2013
36
The clinical maze of mitochondrial neurology. 24
23835535 2013
37
Mutations in COQ2 in familial and sporadic multiple-system atrophy. 24
23758206 2013
38
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome. 24
23349334 2013
39
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 24
22494076 2012
40
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. 24
21873089 2012
41
Renal involvement in mitochondrial cytopathies. 24
21656172 2012
42
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 24
22036850 2012
43
176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency. 24
21723727 2012
44
Coenzyme Q deficiency in muscle. 24
21844807 2011
45
Coenzyme Q biosynthesis: Coq6 is required for the C5-hydroxylation reaction and substrate analogs rescue Coq6 deficiency. 24
21944752 2011
46
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 24
21540551 2011
47
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 24
20495179 2010
48
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 24
20580948 2010
49
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. 24
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. 24
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2):c.437G>A (p.Ser146Asn)SNV Pathogenic 1440 rs121918233 4:84200234-84200234 4:83279081-83279081
2 COQ2 NM_015697.8(COQ2):c.382A>G (p.Met128Val)SNV Pathogenic,risk factor 60536 rs778094136 4:84205686-84205686 4:83284533-83284533
3 COQ2 NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter)SNV Pathogenic,risk factor 60538 rs751185256 4:84185459-84185459 4:83264306-83264306
4 COQ2 NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys)SNV Pathogenic 1436 rs121918230 4:84191035-84191035 4:83269882-83269882
5 COQ2 NM_015697.8(COQ2):c.590G>A (p.Arg197His)SNV Pathogenic 1438 rs121918231 4:84194751-84194751 4:83273598-83273598
6 COQ2 NM_015697.8(COQ2):c.1197del (p.Asn401fs)deletion Pathogenic 375340 rs750710187 4:84185421-84185421 4:83264268-83264268
7 COQ2 NM_015697.8(COQ2):c.905C>T (p.Ala302Val)SNV Pathogenic 375339 rs762616589 4:84191020-84191020 4:83269867-83269867
8 COQ2 NM_015697.8(COQ2):c.545T>G (p.Met182Arg)SNV Pathogenic 375338 rs1057519348 4:84200126-84200126 4:83278973-83278973
9 COQ2 NM_015697.8(COQ2):c.288dup (p.Ala97fs)duplication Conflicting interpretations of pathogenicity 631951 rs759310292 4:84205779-84205780 4:83284626-83284627
10 COQ9 NM_020312.4(COQ9):c.337G>A (p.Ala113Thr)SNV Conflicting interpretations of pathogenicity 320008 rs377307935 16:57486807-57486807 16:57452895-57452895
11 COQ9 NM_020312.4(COQ9):c.73+9deldeletion Conflicting interpretations of pathogenicity 320004 rs749532852 16:57481495-57481495 16:57447583-57447583
12 COQ9 NM_020312.4(COQ9):c.315G>A (p.Thr105=)SNV Conflicting interpretations of pathogenicity 320007 rs201238241 16:57486785-57486785 16:57452873-57452873
13 PDSS1 NM_014317.5(PDSS1):c.130-10G>TSNV Conflicting interpretations of pathogenicity 299695 rs551306397 10:26991081-26991081 10:26702152-26702152
14 COQ9 NM_020312.4(COQ9):c.240C>G (p.Pro80=)SNV Conflicting interpretations of pathogenicity 320005 rs2301773 16:57485118-57485118 16:57451206-57451206
15 PDSS1 NM_001321978.1(PDSS1):c.-29C>TSNV Conflicting interpretations of pathogenicity 138686 rs537781419 10:26986612-26986612 10:26697683-26697683
16 PDSS1 NM_014317.5(PDSS1):c.89G>T (p.Gly30Val)SNV Conflicting interpretations of pathogenicity 138687 rs17855857 10:26986729-26986729 10:26697800-26697800
17 PDSS2 NM_020381.4(PDSS2):c.*1C>TSNV Conflicting interpretations of pathogenicity 354766 rs145540533 6:107475822-107475822 6:107154618-107154618
18 PDSS1 NM_014317.5(PDSS1):c.243C>T (p.Thr81=)SNV Conflicting interpretations of pathogenicity 299697 rs762902803 10:26994230-26994230 10:26705301-26705301
19 PDSS1 NM_014317.5(PDSS1):c.426G>A (p.Ala142=)SNV Conflicting interpretations of pathogenicity 299698 rs149274703 10:26998656-26998656 10:26709727-26709727
20 PDSS2 NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)SNV Conflicting interpretations of pathogenicity 214989 rs201388841 6:107475977-107475977 6:107154773-107154773
21 PDSS2 NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)SNV Conflicting interpretations of pathogenicity 214987 rs35555197 6:107566787-107566787 6:107245583-107245583
22 COQ9 NM_020312.4(COQ9):c.79C>G (p.Arg27Gly)SNV Conflicting interpretations of pathogenicity 214240 rs140264612 16:57484957-57484957 16:57451045-57451045
23 COQ9 NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)SNV Conflicting interpretations of pathogenicity 214248 rs11547480 16:57486793-57486793 16:57452881-57452881
24 COQ9 NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)SNV Conflicting interpretations of pathogenicity 214243 rs76508383 16:57493600-57493600 16:57459688-57459688
25 COQ9 NM_020312.4(COQ9):c.625C>G (p.Leu209Val)SNV Conflicting interpretations of pathogenicity 136988 rs78846023 16:57492176-57492176 16:57458264-57458264
26 COQ9 NM_020312.4(COQ9):c.864G>C (p.Lys288Asn)SNV Conflicting interpretations of pathogenicity 136989 rs61730662 16:57493629-57493629 16:57459717-57459717
27 COQ9 NM_020312.4(COQ9):c.921+11C>ASNV Conflicting interpretations of pathogenicity 136990 rs75908124 16:57494027-57494027 16:57460115-57460115
28 COQ9 NM_020312.4(COQ9):c.921+13C>TSNV Conflicting interpretations of pathogenicity 136991 rs115677652 16:57494029-57494029 16:57460117-57460117
29 COQ9 NM_020312.4(COQ9):c.74-13G>ASNV Conflicting interpretations of pathogenicity 136992 rs181356497 16:57484939-57484939 16:57451027-57451027
30 COQ9 NM_020312.4(COQ9):c.102G>A (p.Pro34=)SNV Conflicting interpretations of pathogenicity 136993 rs223864 16:57484980-57484980 16:57451068-57451068
31 PDSS1 NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys)SNV Conflicting interpretations of pathogenicity 138681 rs77826284 10:26998637-26998637 10:26709708-26709708
32 PDSS1 NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)SNV Conflicting interpretations of pathogenicity 138683 rs116424900 10:27009268-27009268 10:26720339-26720339
33 PDSS2 NM_020381.4(PDSS2):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 261251 rs139493398 6:107475874-107475874 6:107154670-107154670
34 COQ2 NM_015697.8(COQ2):c.*269G>ASNV Uncertain significance 349906 rs73830461 4:84185083-84185083 4:83263930-83263930
35 COQ2 NM_015697.8(COQ2):c.*257T>CSNV Uncertain significance 349907 rs746613612 4:84185095-84185095 4:83263942-83263942
36 COQ2 NM_015697.8(COQ2):c.*153A>GSNV Uncertain significance 349909 rs886059667 4:84185199-84185199 4:83264046-83264046
37 COQ2 NM_015697.8(COQ2):c.*151A>GSNV Uncertain significance 349910 rs757004000 4:84185201-84185201 4:83264048-83264048
38 COQ2 NM_015697.8(COQ2):c.958C>T (p.Arg320Trp)SNV Uncertain significance 349913 rs886059669 4:84188882-84188882 4:83267729-83267729
39 PDSS2 NM_020381.4(PDSS2):c.*1886_*1887insAAinsertion Uncertain significance 354744 rs886060915 6:107473936-107473937 6:107152732-107152733
40 PDSS2 NM_020381.4(PDSS2):c.*1886G>ASNV Uncertain significance 354745 rs886060916 6:107473937-107473937 6:107152733-107152733
41 PDSS2 NM_020381.4(PDSS2):c.*1586T>ASNV Uncertain significance 354750 rs11548249 6:107474237-107474237 6:107153033-107153033
42 PDSS2 NM_020381.4(PDSS2):c.*1433A>GSNV Uncertain significance 354751 rs79647284 6:107474390-107474390 6:107153186-107153186
43 PDSS2 NM_020381.4(PDSS2):c.*1335G>ASNV Uncertain significance 354752 rs116118550 6:107474488-107474488 6:107153284-107153284
44 PDSS2 NM_020381.4(PDSS2):c.*969T>GSNV Uncertain significance 354754 rs886060919 6:107474854-107474854 6:107153650-107153650
45 PDSS2 NM_020381.4(PDSS2):c.*385G>ASNV Uncertain significance 354762 rs886060921 6:107475438-107475438 6:107154234-107154234
46 COQ2 NM_015697.8(COQ2):c.*348dupduplication Uncertain significance 349904 rs542593202 4:84185003-84185004 4:83263850-83263851
47 COQ2 NM_015697.8(COQ2):c.*337A>TSNV Uncertain significance 349905 rs145801680 4:84185015-84185015 4:83263862-83263862
48 COQ2 NM_015697.8(COQ2):c.*53G>ASNV Uncertain significance 349911 rs143771689 4:84185299-84185299 4:83264146-83264146
49 COQ2 NM_015697.8(COQ2):c.*232C>GSNV Uncertain significance 349908 rs886059666 4:84185120-84185120 4:83263967-83263967
50 COQ2 NM_015697.8(COQ2):c.315G>C (p.Gln105His)SNV Uncertain significance 349914 rs747231025 4:84205753-84205753 4:83284600-83284600

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
10.53 PDSS2 PDSS1 COQ9 COQ7 COQ6 COQ5

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 POLG PDSS2 PDSS1 COQ9 COQ8B
2 mitochondrial inner membrane GO:0005743 9.63 COQ9 COQ7 COQ6 COQ5 COQ4 COQ2
3 mitochondrial matrix GO:0005759 9.62 TK2 PDSS2 PDSS1 COQ5
4 transferase complex GO:1990234 9.26 PDSS2 PDSS1
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.1 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 9.32 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
2 DNA biosynthetic process GO:0071897 9.16 TK2 POLG
3 isoprenoid biosynthetic process GO:0008299 9.13 PDSS2 PDSS1 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 9.28 TK2 POLG PDSS2 PDSS1 COQ8B COQ8A
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 9.26 COQ7 COQ6
3 trans-octaprenyltranstransferase activity GO:0050347 9.16 PDSS2 PDSS1
4 trans-hexaprenyltranstransferase activity GO:0000010 8.96 PDSS2 PDSS1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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