COQ10D4
MCID: CNZ005
MIFTS: 41

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 72 29 13 6
Scar9 57 12 20 58 72
Spinocerebellar Ataxia, Autosomal Recessive 9 57 12 70
Autosomal Recessive Cerebellar Ataxia Type 2 20 58 72
Coq10d4 57 12 72
Arca2 20 58 72
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 72
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 20-May-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: 139485 Definition This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. Epidemiology Prevalence is unknown. Clinical description Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. Etiology The 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 counseling The syndrome is transmitted as an autosomal recessive trait.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 4, also known as scar9, is related to coenzyme q10 deficiency disease and ataxia and polyneuropathy, adult-onset, 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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 24)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency disease 27.0 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
2 ataxia and polyneuropathy, adult-onset 10.1
3 coenzyme q10 deficiency, primary, 1 10.0 COQ8A APTX
4 spastic paraplegia 7, autosomal recessive 10.0 COQ8A APTX
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.9 COQ8A APTX
6 autosomal recessive cerebellar ataxia 9.9
7 movement disease 9.9
8 marinesco-sjogren syndrome 9.9 COQ8A APTX
9 hypercholesterolemia, familial, 4 9.7 PDSS1 COQ6 COQ5
10 frasier syndrome 9.7 COQ8B COQ6
11 cardiofaciocutaneous syndrome 1 9.7 PDSS1 COQ8A APTX
12 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7 PDSS1 COQ9 COQ6
13 mitochondrial encephalomyopathy 9.6 PDSS1 COQ9 COQ8A COQ4
14 coenzyme q10 deficiency, primary, 2 9.5 PDSS1 COQ8B COQ6 COQ4
15 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.5 PDSS1 COQ9 COQ8A APTX
16 kearns-sayre syndrome 9.5 PDSS1 COQ9 COQ8A APTX
17 hereditary ataxia 9.5 PDSS1 COQ9 COQ8A APTX
18 leigh syndrome 9.4 PDSS1 COQ9 COQ8A COQ6 COQ4
19 coenzyme q10 deficiency, primary, 3 9.3 PDSS1 COQ9 COQ8B COQ6 COQ4
20 coenzyme q10 deficiency, primary, 5 9.2 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
21 coenzyme q10 deficiency, primary, 6 9.2 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
22 mitochondrial complex i deficiency, nuclear type 1 9.1 COQ9 COQ8A COQ7 COQ5 COQ4 COQ3
23 coenzyme q10 deficiency, primary, 7 8.8 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
24 multiple acyl-coa dehydrogenase deficiency 8.7 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4

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 20-May-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 20-May-2021)

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


cerebellar ataxia

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:

(show all 13)
# 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. 6 57
15326254 2004
4
Cerebellar ataxia and coenzyme Q10 deficiency. 6 57
12682339 2003
5
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
6
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. 57
32337771 2020
7
Mitochondrial pathology in progressive cerebellar ataxia. 6
26640698 2015
8
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 6
24164873 2013
9
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 6
22036850 2012
10
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6
20495179 2010
11
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 6
20580948 2010
12
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. 61
30968303 2019
13
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 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes NC_000001.10:g.227150977_227195656del44680 Deletion Pathogenic 375332 GRCh37: 1:227150977-227195656
GRCh38: 1:226963276-227007955
2 COQ8A GRCh37/hg19 1q42.13(chr1:227149087-227149264) copy number loss Pathogenic 915977 GRCh37: 1:227149087-227149264
GRCh38:
3 COQ8A NM_020247.5(COQ8A):c.1398+2T>C SNV Pathogenic 3641 rs606231138 GRCh37: 1:227171938-227171938
GRCh38: 1:226984237-226984237
4 COQ8A NM_020247.5(COQ8A):c.1332_1333CA[1] (p.Thr445fs) Microsatellite Pathogenic 210096 rs797045217 GRCh37: 1:227171870-227171871
GRCh38: 1:226984169-226984170
5 COQ8A NM_020247.5(COQ8A):c.1081-1_1082dup Duplication Pathogenic 375333 rs1057519344 GRCh37: 1:227171250-227171251
GRCh38: 1:226983549-226983550
6 COQ8A NM_020247.5(COQ8A):c.1506+1G>A SNV Pathogenic 446283 rs974677376 GRCh37: 1:227172357-227172357
GRCh38: 1:226984656-226984656
7 COQ8A NM_020247.5(COQ8A):c.1396del (p.Glu466fs) Deletion Pathogenic 523020 rs1553280621 GRCh37: 1:227171934-227171934
GRCh38: 1:226984233-226984233
8 COQ8A NM_020247.5(COQ8A):c.1358del (p.Leu453fs) Deletion Pathogenic 801627 rs1271428051 GRCh37: 1:227171896-227171896
GRCh38: 1:226984195-226984195
9 COQ8A NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) SNV Pathogenic 807529 rs1572040505 GRCh37: 1:227149261-227149261
GRCh38: 1:226961560-226961560
10 COQ8A NM_020247.5(COQ8A):c.656-1G>T SNV Pathogenic 807530 rs903436781 GRCh37: 1:227165149-227165149
GRCh38: 1:226977448-226977448
11 COQ8A NM_020247.5(COQ8A):c.814G>T (p.Gly272Cys) SNV Pathogenic 997096 GRCh37: 1:227169811-227169811
GRCh38: 1:226982110-226982110
12 COQ8A NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) Indel Pathogenic 3642 rs606231139 GRCh37: 1:227153023-227153044
GRCh38: 1:226965322-226965343
13 COQ8A NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) Duplication Pathogenic 214046 rs764847439 GRCh37: 1:227174332-227174333
GRCh38: 1:226986631-226986632
14 COQ8A NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) SNV Pathogenic 392924 rs781518112 GRCh37: 1:227169827-227169827
GRCh38: 1:226982126-226982126
15 COQ8A NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) SNV Pathogenic 3636 rs119468004 GRCh37: 1:227173033-227173033
GRCh38: 1:226985332-226985332
16 COQ8A NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) SNV Pathogenic 3637 rs119468005 GRCh37: 1:227153420-227153420
GRCh38: 1:226965719-226965719
17 COQ8A NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) SNV Pathogenic 3638 rs119468006 GRCh37: 1:227169812-227169812
GRCh38: 1:226982111-226982111
18 COQ8A NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) SNV Pathogenic 3639 rs119468006 GRCh37: 1:227169812-227169812
GRCh38: 1:226982111-226982111
19 COQ8A NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) Duplication Pathogenic 3640 rs387906298 GRCh37: 1:227174305-227174306
GRCh38: 1:226986604-226986605
20 COQ8A NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) SNV Pathogenic 3643 rs119468008 GRCh37: 1:227172611-227172611
GRCh38: 1:226984910-226984910
21 COQ8A NM_020247.5(COQ8A):c.1747_1749ACC[1] (p.Thr584del) Microsatellite Pathogenic 3644 rs387906299 GRCh37: 1:227174240-227174242
GRCh38: 1:226986539-226986541
22 COQ8A NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) SNV Pathogenic 3646 rs119468009 GRCh37: 1:227173027-227173027
GRCh38: 1:226985326-226985326
23 COQ8A NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) SNV Pathogenic 217876 rs119468004 GRCh37: 1:227173033-227173033
GRCh38: 1:226985332-226985332
24 COQ8A NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) SNV Pathogenic 372655 rs201908721 GRCh37: 1:227170420-227170420
GRCh38: 1:226982719-226982719
25 COQ8A NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) SNV Pathogenic 375331 rs1057519343 GRCh37: 1:227172593-227172593
GRCh38: 1:226984892-226984892
26 COQ8A NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) SNV Pathogenic 242458 rs771578775 GRCh37: 1:227170697-227170697
GRCh38: 1:226982996-226982996
27 COQ8A NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) SNV Pathogenic 375329 rs747150601 GRCh37: 1:227171308-227171308
GRCh38: 1:226983607-226983607
28 COQ8A NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) SNV Pathogenic 375330 rs752130338 GRCh37: 1:227174338-227174338
GRCh38: 1:226986637-226986637
29 COQ8A NM_020247.5(COQ8A):c.1615dup (p.Ala539fs) Duplication Pathogenic 1032071 GRCh37: 1:227172994-227172995
GRCh38: 1:226985293-226985294
30 COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) Duplication Likely pathogenic 183336 rs1553281318 GRCh37: 1:227174237-227174238
GRCh38: 1:226986536-226986537
31 COQ8A NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) SNV Likely pathogenic 520594 rs201618750 GRCh37: 1:227174315-227174315
GRCh38: 1:226986614-226986614
32 COQ8A NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) SNV Likely pathogenic 807531 rs767406263 GRCh37: 1:227170668-227170668
GRCh38: 1:226982967-226982967
33 COQ8A NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) Deletion Likely pathogenic 666349 rs751637699 GRCh37: 1:227173006-227173007
GRCh38: 1:226985305-226985306
34 COQ8A NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) SNV Likely pathogenic 666357 rs767584322 GRCh37: 1:227153421-227153421
GRCh38: 1:226965720-226965720
35 COQ8A NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro) SNV Likely pathogenic 829818 GRCh37: 1:227169833-227169833
GRCh38: 1:226982132-226982132
36 COQ8A NM_020247.5(COQ8A):c.1007del (p.Phe336fs) Deletion Likely pathogenic 225294 rs1085307053 GRCh37: 1:227170661-227170661
GRCh38: 1:226982960-226982960
37 COQ8A NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) SNV Likely pathogenic 434087 rs140246430 GRCh37: 1:227170426-227170426
GRCh38: 1:226982725-226982725
38 COQ8A NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) SNV Likely pathogenic 434089 rs763311061 GRCh37: 1:227171528-227171528
GRCh38: 1:226983827-226983827
39 COQ8A NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) SNV Likely pathogenic 434088 rs373971613 GRCh37: 1:227170655-227170655
GRCh38: 1:226982954-226982954
40 COQ8A NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) SNV Likely pathogenic 210097 rs578189699 GRCh37: 1:227172602-227172602
GRCh38: 1:226984901-226984901
41 COQ8A NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) SNV Conflicting interpretations of pathogenicity 296015 rs145034527 GRCh37: 1:227169808-227169808
GRCh38: 1:226982107-226982107
42 COQ8A NM_020247.5(COQ8A):c.1572+7G>A SNV Uncertain significance 377445 rs371874740 GRCh37: 1:227172649-227172649
GRCh38: 1:226984948-226984948
43 COQ8A NM_020247.5(COQ8A):c.798G>A (p.Thr266=) SNV Uncertain significance 296014 rs750042754 GRCh37: 1:227169795-227169795
GRCh38: 1:226982094-226982094
44 COQ8A NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) SNV Uncertain significance 225030 rs199874519 GRCh37: 1:227174159-227174159
GRCh38: 1:226986458-226986458
45 COQ8A NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) SNV Uncertain significance 214044 rs144147839 GRCh37: 1:227171824-227171824
GRCh38: 1:226984123-226984123
46 COQ8A NM_020247.5(COQ8A):c.67G>A (p.Val23Met) SNV Uncertain significance 136295 rs35582308 GRCh37: 1:227149153-227149153
GRCh38: 1:226961452-226961452
47 COQ8A NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) SNV Uncertain significance 585373 rs759470563 GRCh37: 1:227171269-227171269
GRCh38: 1:226983568-226983568
48 COQ8A NM_020247.5(COQ8A):c.*184G>C SNV Uncertain significance 296033 rs548257684 GRCh37: 1:227174622-227174622
GRCh38: 1:226986921-226986921
49 COQ8A NM_020247.5(COQ8A):c.258A>C (p.Ala86=) SNV Uncertain significance 136298 rs137872711 GRCh37: 1:227152781-227152781
GRCh38: 1:226965080-226965080
50 COQ8A NM_020247.5(COQ8A):c.1800C>T (p.Val600=) SNV Uncertain significance 296028 rs74589348 GRCh37: 1:227174294-227174294
GRCh38: 1:226986593-226986593

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

72 (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
11.48 COQ7 COQ6 COQ5 COQ3
2
Show member pathways
10.18 PDSS1 COQ9 COQ7 COQ6 COQ5 COQ3

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 9.81 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
2 mitochondrial inner membrane GO:0005743 9.5 COQ9 COQ7 COQ6 COQ5 COQ4 COQ3
3 mitochondrial matrix GO:0005759 9.43 PDSS1 COQ5 COQ3
4 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 ubiquinone biosynthetic process GO:0006744 9.28 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.43 PDSS1 COQ8B COQ8A COQ5 COQ3 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 8.62 COQ7 COQ6

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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