COQ10D1
MCID: CNZ006
MIFTS: 42

Coenzyme Q10 Deficiency, Primary, 1 (COQ10D1)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 1

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 1:

Name: Coenzyme Q10 Deficiency, Primary, 1 57 72 13 70
Ubiquinone Deficiency 1 57 12 72
Coenzyme Q Deficiency 1 57 12 72
Coq Deficiency 1 57 12 72
Coq10d1 57 12 72
Coenzyme Q10 Deficiency, Primary 1 29 6
Primary Coenzyme Q10 Deficiency 1 12 15
Coq10 Deficiency, Primary, 1 57 12
Coenzyme Q10 Deficiency, Primary, Type 1 39
Primary Coq10 Deficiency 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset usually in infancy or early childhood
some patients may show a favorable response to oral coenzyme q10 supplementation


HPO:

31
coenzyme q10 deficiency, primary, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course onset


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 1

OMIM® : 57 Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009). The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. (607426) (Updated 20-May-2021)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 1, also known as ubiquinone deficiency 1, is related to coenzyme q10 deficiency, primary, 7 and coenzyme q10 deficiency, primary, 4, and has symptoms including seizures, cerebellar ataxia and unspecified visual loss. An important gene associated with Coenzyme Q10 Deficiency, Primary, 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are LPA receptor mediated events and Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skeletal muscle and liver, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23.

UniProtKB/Swiss-Prot : 72 Coenzyme Q10 deficiency, primary, 1: An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.

Related Diseases for Coenzyme Q10 Deficiency, Primary, 1

Diseases related to Coenzyme Q10 Deficiency, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 7 31.7 COQ8A COQ2
2 coenzyme q10 deficiency, primary, 4 31.6 COQ8A APTX
3 coenzyme q10 deficiency, primary, 6 10.9
4 coenzyme q10 deficiency, primary, 9 10.9
5 leigh syndrome with nephrotic syndrome 10.2 COQ8A COQ2
6 coenzyme q10 deficiency, primary, 5 10.2 COQ8A COQ2
7 spastic paraplegia 7, autosomal recessive 10.1 COQ8A APTX
8 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.1 COQ8A APTX
9 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1 COQ8A COQ2
10 marinesco-sjogren syndrome 10.1 COQ8A APTX
11 apraxia 10.0 MAPT APTX
12 coenzyme q10 deficiency disease 10.0 COQ8A COQ2 APTX
13 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.0 COQ8A COQ2 APTX
14 cardiofaciocutaneous syndrome 1 10.0 COQ8A COQ2 APTX
15 multiple acyl-coa dehydrogenase deficiency 10.0 COQ8A COQ2 APTX
16 kearns-sayre syndrome 9.9 COQ8A COQ2 APTX
17 hereditary ataxia 9.9 COQ8A COQ2 APTX
18 striatonigral degeneration 9.9 SNCA COQ2
19 alzheimer disease 18 9.9 SRC SNCA
20 chromosome 17q21.31 duplication syndrome 9.8 SNCA MAPT
21 ideomotor apraxia 9.8 SNCA MAPT
22 akinetic mutism 9.8 SNCA MAPT
23 postencephalitic parkinson disease 9.8 SNCA MAPT
24 alzheimer disease 7 9.8 SNCA MAPT
25 arteriolosclerosis 9.8 SNCA MAPT
26 alzheimer disease 9 9.8 SNCA MAPT
27 parkinson disease 3, autosomal dominant 9.8 SNCA MAPT
28 neuronal intranuclear inclusion disease 9.8 SNCA MAPT
29 parkinson disease 1, autosomal dominant 9.8 SNCA MAPT
30 communicating hydrocephalus 9.8 SNCA MAPT
31 kuru 9.8 SNCA MAPT
32 rem sleep behavior disorder 9.7 SNCA MAPT
33 perry syndrome 9.7 SNCA MAPT
34 olivopontocerebellar atrophy 9.7 SNCA MAPT
35 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.7 SNCA MAPT
36 parkinsonism 9.7 SNCA MAPT
37 fatal familial insomnia 9.7 SNCA MAPT
38 mitochondrial complex i deficiency, nuclear type 1 9.7 SNCA COQ8A COQ2
39 tay-sachs disease 9.7 SNCA APTX
40 gerstmann-straussler disease 9.7 SNCA MAPT
41 leukoencephalopathy, hereditary diffuse, with spheroids 9.7 SNCA MAPT
42 aphasia 9.7 SNCA MAPT
43 multiple system atrophy 1 9.6 SNCA MAPT COQ2
44 dementia, lewy body 9.6 SNCA MAPT COQ2
45 scrapie 9.6 SNCA MAPT
46 autosomal dominant cerebellar ataxia 9.5 SNCA MAPT APTX
47 toxic encephalopathy 9.5 SNCA MAPT
48 choreatic disease 9.5 SNCA APTX
49 peripheral nervous system disease 9.3 SRC SNCA MAPT APTX
50 cerebellar disease 9.2 SNCA MAPT COQ8A COQ2 APTX

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 1:



Diseases related to Coenzyme Q10 Deficiency, Primary, 1

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 1

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 1:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 nystagmus 31 HP:0000639
3 ataxia 31 HP:0001251
4 dysarthria 31 HP:0001260
5 sensorineural hearing impairment 31 HP:0000407
6 fatigue 31 HP:0012378
7 anemia 31 HP:0001903
8 specific learning disability 31 HP:0001328
9 hypertrophic cardiomyopathy 31 HP:0001639
10 elevated serum creatine kinase 31 HP:0003236
11 ragged-red muscle fibers 31 HP:0003200
12 motor delay 31 HP:0001270
13 nephrotic syndrome 31 HP:0000100
14 hepatic failure 31 HP:0001399
15 rod-cone dystrophy 31 HP:0000510
16 encephalopathy 31 HP:0001298
17 lactic acidosis 31 HP:0003128
18 cerebellar atrophy 31 HP:0001272
19 hypergonadotropic hypogonadism 31 HP:0000815
20 scanning speech 31 HP:0002168
21 pancytopenia 31 HP:0001876
22 visual loss 31 HP:0000572
23 progressive muscle weakness 31 HP:0003323
24 postural instability 31 HP:0002172
25 recurrent myoglobinuria 31 HP:0003652
26 seizure 31 HP:0001250
27 glomerular sclerosis 31 HP:0000096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
encephalopathy
cerebellar atrophy
cerebellar ataxia
mental retardation

Hematology:
anemia
pancytopenia

Genitourinary Kidneys:
nephrotic syndrome
glomerulosclerosis
podocyte effacement
abnormal mitochondria in podocytes

Laboratory Abnormalities:
increased serum creatine kinase
decreased levels of coenzyme q10 in skeletal muscle (5-35%)
decreased activity of coenzyme q10-dependent respiratory chain complexes

Abdomen Liver:
liver failure

Head And Neck Eyes:
nystagmus
vision loss
retinitis pigmentosa

Cardiovascular Heart:
hypertrophic cardiomyopathy

Muscle Soft Tissue:
ragged red fibers
muscle weakness, progressive
lipid accumulation
exertional fatigue
decreased coenzyme q10 content

Head And Neck Ears:
deafness, sensorineural

Metabolic Features:
lactic acidemia

Clinical features from OMIM®:

607426 (Updated 20-May-2021)

UMLS symptoms related to Coenzyme Q10 Deficiency, Primary, 1:


seizures; cerebellar ataxia; unspecified visual loss

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 1

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 1

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 1

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 1:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary 1 29 COQ2

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 1

MalaCards organs/tissues related to Coenzyme Q10 Deficiency, Primary, 1:

40
Skeletal Muscle, Liver

Publications for Coenzyme Q10 Deficiency, Primary, 1

Articles related to Coenzyme Q10 Deficiency, Primary, 1:

(show all 22)
# Title Authors PMID Year
1
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6 57
20495179 2010
2
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. 57 6
17855635 2007
3
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 57 6
17332895 2007
4
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. 57 6
16400613 2006
5
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. 57 6
16116126 2005
6
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. 6
27493029 2016
7
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
8
Mutations in COQ2 in familial and sporadic multiple-system atrophy. 6
23758206 2013
9
Primary and secondary CoQ(10) deficiencies in humans. 57
21990098 2011
10
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 57
19375058 2009
11
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 6
17374725 2007
12
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. 57
15699391 2005
13
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. 57
15710863 2005
14
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. 57
15007142 2004
15
Cerebellar ataxia and coenzyme Q10 deficiency. 57
12682339 2003
16
Coenzyme Q-responsive Leigh's encephalopathy in two sisters. 57
12447928 2002
17
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. 57
11502923 2001
18
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. 57
11294920 2001
19
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. 57
10972372 2000
20
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. 57
9559985 1998
21
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. 57
9153450 1997
22
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. 57
2928337 1989

Variations for Coenzyme Q10 Deficiency, Primary, 1

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 1:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ2 NM_001358921.2(COQ2):c.967del (p.Ile323fs) Deletion Pathogenic 1031930 GRCh37: 4:84185501-84185501
GRCh38: 4:83264348-83264348
2 COQ2 NM_015697.8(COQ2):c.1197del (p.Asn401fs) Deletion Pathogenic 375340 rs750710187 GRCh37: 4:84185421-84185421
GRCh38: 4:83264268-83264268
3 COQ2 NM_015697.8(COQ2):c.1197del (p.Asn401fs) Deletion Pathogenic 375340 rs750710187 GRCh37: 4:84185421-84185421
GRCh38: 4:83264268-83264268
4 COQ2 NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) SNV Pathogenic 1440 rs121918233 GRCh37: 4:84200234-84200234
GRCh38: 4:83279081-83279081
5 COQ2 NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) SNV Pathogenic 1436 rs121918230 GRCh37: 4:84191035-84191035
GRCh38: 4:83269882-83269882
6 COQ2 NM_015697.8(COQ2):c.545T>G (p.Met182Arg) SNV Pathogenic 375338 rs1057519348 GRCh37: 4:84200126-84200126
GRCh38: 4:83278973-83278973
7 COQ2 NM_015697.8(COQ2):c.590G>A (p.Arg197His) SNV Pathogenic 1438 rs121918231 GRCh37: 4:84194751-84194751
GRCh38: 4:83273598-83273598
8 COQ2 NM_015697.8(COQ2):c.382A>G (p.Met128Val) SNV Pathogenic 60536 rs778094136 GRCh37: 4:84205686-84205686
GRCh38: 4:83284533-83284533
9 COQ2 NM_015697.8(COQ2):c.905C>T (p.Ala302Val) SNV Pathogenic 375339 rs762616589 GRCh37: 4:84191020-84191020
GRCh38: 4:83269867-83269867
10 COQ2 NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) SNV Pathogenic 1440 rs121918233 GRCh37: 4:84200234-84200234
GRCh38: 4:83279081-83279081
11 COQ2 NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) SNV Pathogenic 1439 rs121918232 GRCh37: 4:84194658-84194658
GRCh38: 4:83273505-83273505
12 COQ2 NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter) SNV Pathogenic 60538 rs751185256 GRCh37: 4:84185459-84185459
GRCh38: 4:83264306-83264306
13 COQ2 NM_015697.8(COQ2):c.288dup (p.Ala97fs) Duplication Pathogenic 631951 rs759310292 GRCh37: 4:84205779-84205780
GRCh38: 4:83284626-83284627
14 COQ2 NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) SNV Pathogenic 1436 rs121918230 GRCh37: 4:84191035-84191035
GRCh38: 4:83269882-83269882
15 COQ2 NM_015697.8(COQ2):c.590G>A (p.Arg197His) SNV Pathogenic 1438 rs121918231 GRCh37: 4:84194751-84194751
GRCh38: 4:83273598-83273598
16 COQ8A NM_020247.5(COQ8A):c.*72dup Duplication Likely pathogenic 590809 rs1558212305 GRCh37: 1:227174508-227174509
GRCh38: 1:226986807-226986808
17 COQ2 NM_015697.8(COQ2):c.854C>G (p.Pro285Arg) SNV Likely pathogenic 522423 rs1161445886 GRCh37: 4:84191071-84191071
GRCh38: 4:83269918-83269918
18 COQ8A NM_020247.5(COQ8A):c.280_284del (p.Ser95fs) Deletion Likely pathogenic 930030 GRCh37: 1:227152799-227152803
GRCh38: 1:226965098-226965102
19 COQ2 NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) SNV Likely pathogenic 807401 rs1577993720 GRCh37: 4:84205698-84205698
GRCh38: 4:83284545-83284545
20 COQ2 NM_001358921.2(COQ2):c.253+4A>T SNV Uncertain significance 813911 rs907149421 GRCh37: 4:84205661-84205661
GRCh38: 4:83284508-83284508
21 LOC112997540 , COQ2 NM_015697.9(COQ2):c.97C>T (p.His33Tyr) SNV Uncertain significance 1027998 GRCh37: 4:84205971-84205971
GRCh38: 4:83284818-83284818
22 COQ2 NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) SNV Uncertain significance 1031928 GRCh37: 4:84188801-84188801
GRCh38: 4:83267648-83267648
23 COQ2 NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) SNV Uncertain significance 1031929 GRCh37: 4:84188765-84188765
GRCh38: 4:83267612-83267612
24 LOC112997540 , COQ2 NM_015697.8(COQ2):c.16C>A (p.Gln6Lys) SNV Uncertain significance 214225 rs752575160 GRCh37: 4:84206052-84206052
GRCh38: 4:83284899-83284899
25 APTX NM_001195248.2(APTX):c.-5+2T>G SNV Uncertain significance 590828 rs1563993041 GRCh37: 9:33001563-33001563
GRCh38: 9:33001565-33001565
26 COQ2 NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) SNV Uncertain significance 830038 rs1577986966 GRCh37: 4:84194683-84194683
GRCh38: 4:83273530-83273530
27 COQ2 NM_015697.8(COQ2):c.1217_1219AGA[1] (p.Lys407del) Microsatellite Uncertain significance 590829 rs765403087 GRCh37: 4:84185396-84185398
GRCh38: 4:83264243-83264245
28 COQ8A NM_020247.5(COQ8A):c.1939C>T (p.Gln647Ter) SNV Uncertain significance 590825 rs750925071 GRCh37: 1:227174433-227174433
GRCh38: 1:226986732-226986732
29 COQ8A NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu) SNV Uncertain significance 590826 rs766591347 GRCh37: 1:227174436-227174436
GRCh38: 1:226986735-226986735
30 COQ2 NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) SNV Uncertain significance 1031931 GRCh37: 4:84194700-84194700
GRCh38: 4:83273547-83273547
31 PDSS1 NM_014317.5(PDSS1):c.*110_*113dup Duplication Uncertain significance 299705 rs144094307 GRCh37: 10:27035510-27035511
GRCh38: 10:26746581-26746582
32 PDSS2 NM_020381.4(PDSS2):c.*769G>A SNV Uncertain significance 354758 rs782037173 GRCh37: 6:107475054-107475054
GRCh38: 6:107153850-107153850
33 PDSS1 NM_001321978.1(PDSS1):c.-29C>T SNV Uncertain significance 138686 rs537781419 GRCh37: 10:26986612-26986612
GRCh38: 10:26697683-26697683
34 LOC112997540 , COQ2 NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) SNV Uncertain significance 136978 rs112033303 GRCh37: 4:84206004-84206004
GRCh38: 4:83284851-83284851
35 COQ2 NM_015697.8(COQ2):c.288dup (p.Ala97fs) Duplication Uncertain significance 631951 rs759310292 GRCh37: 4:84205779-84205780
GRCh38: 4:83284626-83284627
36 PDSS2 NM_020381.4(PDSS2):c.*1886_*1887insAA Insertion Uncertain significance 354744 rs886060915 GRCh37: 6:107473936-107473937
GRCh38: 6:107152732-107152733
37 LOC112469007 , COQ9 NM_020312.4(COQ9):c.-25C>T SNV Uncertain significance 320003 rs547268811 GRCh37: 16:57481393-57481393
GRCh38: 16:57447481-57447481
38 PDSS2 NM_020381.4(PDSS2):c.*2032dup Duplication Uncertain significance 354742 rs886060914 GRCh37: 6:107473790-107473791
GRCh38: 6:107152586-107152587
39 COQ2 NM_015697.8(COQ2):c.*348dup Duplication Uncertain significance 349904 rs542593202 GRCh37: 4:84185003-84185004
GRCh38: 4:83263850-83263851
40 LOC112469007 , COQ9 NM_020312.4(COQ9):c.73+9del Deletion Uncertain significance 320004 rs749532852 GRCh37: 16:57481495-57481495
GRCh38: 16:57447583-57447583
41 COQ9 , LOC112469007 NM_001308347.1(CIAPIN1):c.-183G>C SNV Uncertain significance 320001 rs886052178 GRCh37: 16:57481381-57481381
GRCh38: 16:57447469-57447469
42 COQ2 NM_015697.8(COQ2):c.*257T>C SNV Uncertain significance 349907 rs746613612 GRCh37: 4:84185095-84185095
GRCh38: 4:83263942-83263942
43 PDSS1 NM_014317.5(PDSS1):c.1027-7_1027-6del Deletion Uncertain significance 299701 rs527296865 GRCh37: 10:27031414-27031415
GRCh38: 10:26742485-26742486
44 COQ2 NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) SNV Uncertain significance 1439 rs121918232 GRCh37: 4:84194658-84194658
GRCh38: 4:83273505-83273505
45 PDSS1 NM_014317.5(PDSS1):c.163-5del Deletion Likely benign 214982 rs34296355 GRCh37: 10:26993598-26993598
GRCh38: 10:26704669-26704669
46 PDSS2 NM_020381.4(PDSS2):c.*544dup Duplication Likely benign 354761 rs35619837 GRCh37: 6:107475278-107475279
GRCh38: 6:107154074-107154075
47 COQ2 NM_015697.8(COQ2):c.990C>T (p.Ser330=) SNV Benign 128830 rs1129617 GRCh37: 4:84188850-84188850
GRCh38: 4:83267697-83267697
48 COQ2 NM_015697.8(COQ2):c.894T>C (p.Asp298=) SNV Benign 128829 rs6535454 GRCh37: 4:84191031-84191031
GRCh38: 4:83269878-83269878
49 LOC112997540 , COQ2 NM_015697.8(COQ2):c.196G>T (p.Val66Leu) SNV Benign 128828 rs6818847 GRCh37: 4:84205872-84205872
GRCh38: 4:83284719-83284719

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 1:

72
# Symbol AA change Variation ID SNP ID
1 COQ2 p.Tyr247Cys VAR_025701
2 COQ2 p.Ser96Asn VAR_068161
3 COQ2 p.Arg147His VAR_068162
4 COQ2 p.Asn178Ser VAR_068163
5 COQ2 p.Met132Arg VAR_076913
6 COQ2 p.Ala252Val VAR_076914

Expression for Coenzyme Q10 Deficiency, Primary, 1

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 1.

Pathways for Coenzyme Q10 Deficiency, Primary, 1

GO Terms for Coenzyme Q10 Deficiency, Primary, 1

Cellular components related to Coenzyme Q10 Deficiency, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 SRC SNCA MAPT COQ8A COQ2

Biological processes related to Coenzyme Q10 Deficiency, Primary, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.49 SRC SNCA
2 synapse organization GO:0050808 9.48 SNCA MAPT
3 response to hydrogen peroxide GO:0042542 9.46 SRC APTX
4 positive regulation of protein serine/threonine kinase activity GO:0071902 9.43 SRC SNCA
5 protein destabilization GO:0031648 9.4 SRC SNCA
6 positive regulation of neuron death GO:1901216 9.37 SNCA MAPT
7 response to interleukin-1 GO:0070555 9.32 SRC SNCA
8 cellular response to reactive oxygen species GO:0034614 9.26 SRC MAPT
9 microglial cell activation GO:0001774 9.16 SNCA MAPT
10 ubiquinone biosynthetic process GO:0006744 8.96 COQ8A COQ2
11 supramolecular fiber organization GO:0097435 8.62 SNCA MAPT

Molecular functions related to Coenzyme Q10 Deficiency, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.13 SRC SNCA MAPT
2 phosphoprotein binding GO:0051219 8.8 SRC SNCA APTX

Sources for Coenzyme Q10 Deficiency, Primary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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