COQ10D4
MCID: CNZ005
MIFTS: 45

Coenzyme Q10 Deficiency, Primary, 4 (COQ10D4)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 4

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 4:

Name: Coenzyme Q10 Deficiency, Primary, 4 57 12 73 29 13 6
Scar9 57 12 20 58 73
Spinocerebellar Ataxia, Autosomal Recessive 9 57 12 71
Autosomal Recessive Cerebellar Ataxia Type 2 20 58 73
Coq10d4 57 12 73
Arca2 20 58 73
Autosomal Recessive Ataxia Due to Coenzyme Q10 Deficiency 20 58
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency 20 58
Autosomal Recessive Spinocerebellar Ataxia Type 9 20 58
Primary Coenzyme Q10 Deficiency 4 12 15
Spinocerebellar Ataxia, Autosomal Recessive 9; Scar9 57
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9 39
Autosomal Recessive Spinocerebellar Ataxia 9 20
Spinocerebellar Ataxia Autosomal Recessive 9 73
Coenzyme Q10 Deficiency, Primary, Type 4 39

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive ataxia due to ubiquinone deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early to late childhood
seizures and cognitive involvement are variable findings
oral supplementation with ubiquinone does not result in major clinical improvement


HPO:

31
coenzyme q10 deficiency, primary, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Coenzyme Q10 Deficiency, Primary, 4

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139485DefinitionThis syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.EpidemiologyPrevalence is unknown.Clinical descriptionExercise intolerance with elevated lactate levels and mild intellectual deficit may also be present.EtiologyThe syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast.Genetic counselingThe syndrome is transmitted as an autosomal recessive trait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 4, also known as scar9, is related to autosomal recessive cerebellar ataxia and coenzyme q10 deficiency disease, and has symptoms including cerebellar ataxia An important gene associated with Coenzyme Q10 Deficiency, Primary, 4 is COQ8A (Coenzyme Q8A), and among its related pathways/superpathways are Biosynthesis of cofactors and Ubiquinol biosynthesis. Related phenotypes are cerebellar atrophy and progressive cerebellar ataxia

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13.

OMIM® : 57 Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. Oral coenzyme Q10 supplementation does not result in significant improvement of neurologic symptoms (summary by Mollet et al., 2008 and Lagier-Tourenne et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). (612016) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Coenzyme Q10 deficiency, primary, 4: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures.

Related Diseases for Coenzyme Q10 Deficiency, Primary, 4

Diseases related to Coenzyme Q10 Deficiency, Primary, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cerebellar ataxia 29.6 SETX COQ8A APTX
2 coenzyme q10 deficiency disease 27.3 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
3 ataxia and polyneuropathy, adult-onset 10.1
4 hypercholesterolemia, familial, 4 10.0 PDSS1 COQ6 COQ5
5 oculomotor apraxia 10.0 SETX APTX
6 ataxia-oculomotor apraxia 3 10.0 SETX APTX
7 nephrotic syndrome 9.9 PDSS2 COQ8B COQ6
8 movement disease 9.9
9 spastic ataxia, charlevoix-saguenay type 9.9 SETX APTX
10 aceruloplasminemia 9.9 SETX COQ8A COQ4
11 coenzyme q10 deficiency, primary, 2 9.9 PDSS1 COQ8B COQ6 COQ4
12 vitamin e, familial isolated deficiency of 9.9 SETX APTX
13 spastic paraplegia 7, autosomal recessive 9.9 SETX COQ8A APTX
14 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.9 SETX COQ8A APTX
15 spinocerebellar ataxia type 1 with axonal neuropathy 9.9 SETX APTX
16 spinocerebellar ataxia, autosomal recessive 8 9.9 SETX COQ8A APTX
17 familial nephrotic syndrome 9.8 COQ8B COQ2
18 coenzyme q10 deficiency, primary, 1 9.8 COQ8A COQ2 APTX
19 marinesco-sjogren syndrome 9.8 COQ8A APTX
20 spastic ataxia 9.8 SETX COQ8A APTX
21 leigh syndrome with nephrotic syndrome 9.8 PDSS2 COQ8A COQ2
22 mitochondrial myopathy 9.8 PDSS2 COQ9 COQ2
23 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.8 SETX APTX
24 coenzyme q10 deficiency, primary, 6 9.7 PDSS1 COQ9 COQ8B COQ6 COQ4
25 frasier syndrome 9.7 PDSS2 COQ8B COQ2
26 coenzyme q10 deficiency, primary, 5 9.6 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
27 cerebellar disease 9.5 SETX COQ8A COQ2 APTX
28 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.5 PDSS1 COQ9 COQ8A COQ2 APTX
29 coenzyme q10 deficiency, primary, 3 9.5 PDSS2 PDSS1 COQ9 COQ8B COQ6 COQ4
30 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 PDSS2 PDSS1 COQ9 COQ6 COQ2
31 cardiofaciocutaneous syndrome 1 9.4 PDSS2 PDSS1 COQ8A COQ2 APTX
32 mitochondrial encephalomyopathy 9.3 PDSS2 PDSS1 COQ9 COQ8A COQ4 COQ2
33 mitochondrial complex i deficiency, nuclear type 1 9.3 COQ9 COQ8A COQ7 COQ5 COQ4 COQ3
34 kearns-sayre syndrome 9.2 PDSS2 PDSS1 COQ9 COQ8A COQ2 APTX
35 leigh syndrome 9.2 PDSS2 PDSS1 COQ9 COQ8A COQ6 COQ4
36 hereditary ataxia 8.9 SETX PDSS2 PDSS1 COQ9 COQ8A COQ2
37 coenzyme q10 deficiency, primary, 7 8.8 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
38 multiple acyl-coa dehydrogenase deficiency 8.6 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 4:



Diseases related to Coenzyme Q10 Deficiency, Primary, 4

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 4

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 4:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
2 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
5 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
6 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
7 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
8 talipes cavus equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0004696
9 focal t2 hypointense basal ganglia lesion 58 31 frequent (33%) Frequent (79-30%) HP:0012752
10 seizure 31 frequent (33%) HP:0001250
11 hypotonia 31 frequent (33%) HP:0001252
12 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
13 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
14 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
15 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
17 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
18 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
19 increased csf lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002490
20 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
21 intellectual disability 31 occasional (7.5%) HP:0001249
22 global developmental delay 31 occasional (7.5%) HP:0001263
23 hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000365
24 dystonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001332
25 gynecomastia 58 31 very rare (1%) Very rare (<4-1%) HP:0000771
26 hyperreflexia 58 31 Occasional (29-5%) HP:0001347
27 seizures 58 Occasional (29-5%)
28 ataxia 31 HP:0001251
29 pes cavus 31 HP:0001761
30 generalized hypotonia 31 HP:0001290
31 central hypotonia 58 Frequent (79-30%)
32 increased intramyocellular lipid droplets 31 HP:0012240

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Peripheral Nervous System:
hyperreflexia

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
proximal muscle weakness
exercise intolerance
hypotonia
decreased coenzyme q
decreased activity of respiratory complex ii+iii
more
Skeletal Feet:
pes cavus
talus valgus

Neurologic Central Nervous System:
cerebellar atrophy
cerebellar ataxia
tremor (less common)
pyramidal signs (less common)
myoclonic jerks (less common)
more
Laboratory Abnormalities:
increased serum and csf lactate

Clinical features from OMIM®:

612016 (Updated 05-Mar-2021)

UMLS symptoms related to Coenzyme Q10 Deficiency, Primary, 4:


cerebellar ataxia

GenomeRNAi Phenotypes related to Coenzyme Q10 Deficiency, Primary, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.5 ADCK1 CDC42BPA COQ8A
2 Decreased viability GR00221-A-2 9.5 ADCK1 CDC42BPA
3 Decreased viability GR00221-A-3 9.5 ADCK1 ADCK5 CDC42BPA COQ8A
4 Decreased viability GR00221-A-4 9.5 ADCK1 CDC42BPA
5 Decreased viability GR00342-S-1 9.5 CDC42BPA
6 Decreased viability GR00342-S-3 9.5 CDC42BPA
7 Decreased viability GR00381-A-1 9.5 ADCK1 COQ8A

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 4

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 4

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 4

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 4:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 4 29 COQ8A

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 4

Publications for Coenzyme Q10 Deficiency, Primary, 4

Articles related to Coenzyme Q10 Deficiency, Primary, 4:

# Title Authors PMID Year
1
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 57 6
18319072 2008
2
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 57 6
18319074 2008
3
Progression despite replacement of a myopathic form of coenzyme Q10 defect. 57 6
15326254 2004
4
Cerebellar ataxia and coenzyme Q10 deficiency. 57 6
12682339 2003
5
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. 57
32337771 2020
6
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6
20495179 2010
7
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. 61
30968303 2019
8
AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation. 61
26866375 2016

Variations for Coenzyme Q10 Deficiency, Primary, 4

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 4:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDC42BPA NC_000001.10:g.227150977_227195656del44680 Deletion Pathogenic 375332 1:227150977-227195656 1:226963276-227007955
2 COQ8A GRCh37/hg19 1q42.13(chr1:227149087-227149264) copy number loss Pathogenic 915977 1:227149087-227149264
3 COQ8A NM_020247.5(COQ8A):c.1398+2T>C SNV Pathogenic 3641 rs606231138 1:227171938-227171938 1:226984237-226984237
4 COQ8A NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) Indel Pathogenic 3642 rs606231139 1:227153023-227153044 1:226965322-226965343
5 COQ8A NM_020247.5(COQ8A):c.1332_1333CA[1] (p.Thr445fs) Microsatellite Pathogenic 210096 rs797045217 1:227171870-227171871 1:226984169-226984170
6 COQ8A NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) Duplication Pathogenic 214046 rs764847439 1:227174332-227174333 1:226986631-226986632
7 COQ8A NM_020247.5(COQ8A):c.1081-1_1082dup Duplication Pathogenic 375333 rs1057519344 1:227171250-227171251 1:226983549-226983550
8 COQ8A NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) SNV Pathogenic 392924 rs781518112 1:227169827-227169827 1:226982126-226982126
9 COQ8A NM_020247.5(COQ8A):c.1506+1G>A SNV Pathogenic 446283 rs974677376 1:227172357-227172357 1:226984656-226984656
10 COQ8A NM_020247.5(COQ8A):c.1358del (p.Leu453fs) Deletion Pathogenic 801627 rs1271428051 1:227171896-227171896 1:226984195-226984195
11 COQ8A NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) SNV Pathogenic 807529 rs1572040505 1:227149261-227149261 1:226961560-226961560
12 COQ8A NM_020247.5(COQ8A):c.656-1G>T SNV Pathogenic 807530 rs903436781 1:227165149-227165149 1:226977448-226977448
13 COQ8A NM_020247.5(COQ8A):c.1396del (p.Glu466fs) Deletion Pathogenic 523020 rs1553280621 1:227171934-227171934 1:226984233-226984233
14 COQ8A NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) SNV Pathogenic 3636 rs119468004 1:227173033-227173033 1:226985332-226985332
15 COQ8A NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) SNV Pathogenic 3637 rs119468005 1:227153420-227153420 1:226965719-226965719
16 COQ8A NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) SNV Pathogenic 3638 rs119468006 1:227169812-227169812 1:226982111-226982111
17 COQ8A NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) SNV Pathogenic 3639 rs119468006 1:227169812-227169812 1:226982111-226982111
18 COQ8A NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) Duplication Pathogenic 3640 rs387906298 1:227174305-227174306 1:226986604-226986605
19 COQ8A NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) SNV Pathogenic 3643 rs119468008 1:227172611-227172611 1:226984910-226984910
20 COQ8A NM_020247.5(COQ8A):c.1747_1749ACC[1] (p.Thr584del) Microsatellite Pathogenic 3644 rs387906299 1:227174240-227174242 1:226986539-226986541
21 COQ8A NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) SNV Pathogenic 3646 rs119468009 1:227173027-227173027 1:226985326-226985326
22 COQ8A NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) SNV Pathogenic 217876 rs119468004 1:227173033-227173033 1:226985332-226985332
23 COQ8A NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) SNV Pathogenic 375331 rs1057519343 1:227172593-227172593 1:226984892-226984892
24 COQ8A NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) SNV Pathogenic 242458 rs771578775 1:227170697-227170697 1:226982996-226982996
25 COQ8A NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) SNV Pathogenic 375329 rs747150601 1:227171308-227171308 1:226983607-226983607
26 COQ8A NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) SNV Pathogenic 375330 rs752130338 1:227174338-227174338 1:226986637-226986637
27 COQ8A NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) SNV Pathogenic 372655 rs201908721 1:227170420-227170420 1:226982719-226982719
28 COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) Duplication Likely pathogenic 183336 rs1553281318 1:227174237-227174238 1:226986536-226986537
29 COQ8A NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro) SNV Likely pathogenic 829818 1:227169833-227169833 1:226982132-226982132
30 COQ8A NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) Deletion Likely pathogenic 666349 rs751637699 1:227173006-227173007 1:226985305-226985306
31 COQ8A NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) SNV Likely pathogenic 666357 rs767584322 1:227153421-227153421 1:226965720-226965720
32 COQ8A NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) SNV Likely pathogenic 807531 rs767406263 1:227170668-227170668 1:226982967-226982967
33 COQ8A NM_020247.5(COQ8A):c.1007del (p.Phe336fs) Deletion Likely pathogenic 225294 rs1085307053 1:227170661-227170661 1:226982960-226982960
34 COQ8A NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) SNV Likely pathogenic 434087 rs140246430 1:227170426-227170426 1:226982725-226982725
35 COQ8A NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) SNV Likely pathogenic 434089 rs763311061 1:227171528-227171528 1:226983827-226983827
36 COQ8A NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) SNV Likely pathogenic 434088 rs373971613 1:227170655-227170655 1:226982954-226982954
37 COQ8A NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) SNV Likely pathogenic 210097 rs578189699 1:227172602-227172602 1:226984901-226984901
38 COQ8A NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) SNV Conflicting interpretations of pathogenicity 296015 rs145034527 1:227169808-227169808 1:226982107-226982107
39 COQ8A NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) SNV Uncertain significance 731772 rs139570869 1:227171261-227171261 1:226983560-226983560
40 COQ8A NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) SNV Uncertain significance 976102 1:227174299-227174299 1:226986598-226986598
41 COQ8A NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly) SNV Uncertain significance 986781 1:227169841-227169841 1:226982140-226982140
42 COQ8A NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) Microsatellite Uncertain significance 986782 1:227172973-227172978 1:226985272-226985277
43 COQ8A NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) SNV Uncertain significance 296010 rs760566419 1:227152950-227152950 1:226965249-226965249
44 COQ8A NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) SNV Uncertain significance 874636 1:227152990-227152990 1:226965289-226965289
45 COQ8A NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) SNV Uncertain significance 874682 1:227171881-227171881 1:226984180-226984180
46 COQ8A NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) SNV Uncertain significance 763998 rs567318021 1:227171933-227171933 1:226984232-226984232
47 COQ8A NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) SNV Uncertain significance 874683 1:227172300-227172300 1:226984599-226984599
48 COQ8A NM_020247.5(COQ8A):c.1533G>A (p.Thr511=) SNV Uncertain significance 874684 1:227172603-227172603 1:226984902-226984902
49 COQ8A NM_020247.5(COQ8A):c.*401A>G SNV Uncertain significance 874730 1:227174839-227174839 1:226987138-226987138
50 COQ8A NM_020247.5(COQ8A):c.*497C>T SNV Uncertain significance 874731 1:227174935-227174935 1:226987234-226987234

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 4:

73 (show all 12)
# Symbol AA change Variation ID SNP ID
1 COQ8A p.Arg213Trp VAR_044402 rs119468005
2 COQ8A p.Gly272Asp VAR_044403 rs119468006
3 COQ8A p.Gly272Val VAR_044404 rs119468006
4 COQ8A p.Tyr514Cys VAR_044405 rs119468008
5 COQ8A p.Gly549Ser VAR_044406 rs119468009
6 COQ8A p.Glu551Lys VAR_044407 rs119468004
7 COQ8A p.Arg271Cys VAR_072622 rs145034527
8 COQ8A p.Arg299Trp VAR_072623 rs201908721
9 COQ8A p.Ala304Thr VAR_072624 rs778798354
10 COQ8A p.Ala304Val VAR_072625 rs748118737
11 COQ8A p.Tyr429Cys VAR_072626 rs144147839
12 COQ8A p.Pro602Arg VAR_072627 rs61995958

Expression for Coenzyme Q10 Deficiency, Primary, 4

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 4.

Pathways for Coenzyme Q10 Deficiency, Primary, 4

Pathways related to Coenzyme Q10 Deficiency, Primary, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 COQ7 COQ6 COQ5 COQ3 COQ2
2
Show member pathways
10.3 PDSS2 PDSS1 COQ9 COQ7 COQ6 COQ5

GO Terms for Coenzyme Q10 Deficiency, Primary, 4

Cellular components related to Coenzyme Q10 Deficiency, Primary, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.9 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
2 mitochondrial matrix GO:0005759 9.62 PDSS2 PDSS1 COQ5 COQ3
3 mitochondrial inner membrane GO:0005743 9.56 COQ9 COQ7 COQ6 COQ5 COQ4 COQ3
4 transferase complex GO:1990234 9.26 PDSS2 PDSS1
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.17 COQ8B COQ8A COQ7 COQ6 COQ5 COQ4

Biological processes related to Coenzyme Q10 Deficiency, Primary, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.72 COQ8B COQ8A CDC42BPA ADCK5 ADCK1
2 protein phosphorylation GO:0006468 9.55 COQ8B COQ8A CDC42BPA ADCK5 ADCK1
3 ubiquinone biosynthetic process GO:0006744 9.36 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
4 glycerol metabolic process GO:0006071 9.26 COQ3 COQ2
5 isoprenoid biosynthetic process GO:0008299 9.13 PDSS2 PDSS1 COQ2

Molecular functions related to Coenzyme Q10 Deficiency, Primary, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.77 COQ8B COQ8A CDC42BPA ADCK5 ADCK1
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 9.4 COQ7 COQ6
3 all-trans-decaprenyl-diphosphate synthase activity GO:0097269 9.32 PDSS2 PDSS1
4 transferase activity GO:0016740 9.32 PDSS2 PDSS1 COQ8B COQ8A COQ5 COQ3
5 trans-octaprenyltranstransferase activity GO:0050347 9.26 PDSS2 PDSS1
6 trans-hexaprenyltranstransferase activity GO:0000010 9.16 PDSS2 PDSS1
7 prenyltransferase activity GO:0004659 9.13 PDSS2 PDSS1 COQ2

Sources for Coenzyme Q10 Deficiency, Primary, 4

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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