COQ10D4
MCID: CNZ005
MIFTS: 40

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 56 12 73 29 13 6
Scar9 56 12 52 58 73
Spinocerebellar Ataxia, Autosomal Recessive 9 56 12 71
Autosomal Recessive Cerebellar Ataxia Type 2 52 58 73
Coq10d4 56 12 73
Arca2 52 58 73
Autosomal Recessive Ataxia Due to Coenzyme Q10 Deficiency 52 58
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency 52 58
Autosomal Recessive Spinocerebellar Ataxia Type 9 52 58
Primary Coenzyme Q10 Deficiency 4 12 15
Spinocerebellar Ataxia, Autosomal Recessive 9; Scar9 56
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9 39
Autosomal Recessive Spinocerebellar Ataxia 9 52
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:

56
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

NIH Rare Diseases : 52 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 . Visit the Orphanet disease page for more resources.

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 is 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 : 56 Primary coenzyme Q10 deficiency-4 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)

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 27)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency disease 26.0 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
2 ataxia and polyneuropathy, adult-onset 10.4
3 autosomal recessive cerebellar ataxia 10.2
4 movement disease 10.2
5 spastic paraplegia 7, autosomal recessive 9.9 COQ8A APTX
6 marinesco-sjogren syndrome 9.8 COQ8A APTX
7 frasier syndrome 9.8 COQ8B COQ2
8 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.7 COQ8A APTX
9 coenzyme q10 deficiency, primary, 1 9.6 COQ8A COQ2 APTX
10 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.6 COQ8A APTX
11 cerebellar disease 9.5 COQ8A COQ2 APTX
12 kearns-sayre syndrome 9.5 COQ8A COQ2 APTX
13 coenzyme q10 deficiency, primary, 5 9.4 COQ9 COQ8B COQ8A COQ6 COQ4
14 mitochondrial myopathy 9.4 PDSS1 COQ9 COQ8A COQ2
15 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.3 PDSS1 COQ9 COQ6 COQ2
16 coenzyme q10 deficiency, primary, 2 9.3 PDSS1 COQ8B COQ8A COQ6 COQ4
17 cardiofaciocutaneous syndrome 1 9.2 PDSS1 COQ8A COQ2 APTX
18 mitochondrial encephalomyopathy 9.2 PDSS1 COQ9 COQ8A COQ4 COQ2
19 coenzyme q10 deficiency, primary, 3 9.1 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
20 coenzyme q10 deficiency, primary, 6 9.1 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
21 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.0 PDSS1 COQ9 COQ8A COQ2 APTX
22 hereditary ataxia 9.0 PDSS1 COQ9 COQ8A COQ2 APTX
23 leigh syndrome 8.9 PDSS1 COQ9 COQ8A COQ6 COQ4 COQ2
24 coenzyme q10 deficiency, primary, 7 8.0 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
25 mitochondrial complex i deficiency, nuclear type 1 8.0 PDSS1 COQ9 COQ8A COQ7 COQ5 COQ4
26 multiple acyl-coa dehydrogenase deficiency 7.9 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
27 mitochondrial metabolism disease 7.0 PDSS1 COQ9 COQ8B COQ8A COQ7 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 31)
# 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 central hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0011398
7 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
8 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
9 talipes cavus equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0004696
10 focal t2 hypointense basal ganglia lesion 58 31 frequent (33%) Frequent (79-30%) HP:0012752
11 seizure 31 frequent (33%) HP:0001250
12 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
13 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
14 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
15 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
16 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
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 increased intramyocellular lipid droplets 31 HP:0012240

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
hyperreflexia

Neurologic Central Nervous System:
cerebellar atrophy
cerebellar ataxia
tremor (less common)
pyramidal signs (less common)
myoclonic jerks (less common)
more
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

Metabolic Features:
lactic acidosis

Laboratory Abnormalities:
increased serum and csf lactate

Clinical features from OMIM:

612016

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:

# Title Authors PMID Year
1
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 6 56
18319072 2008
2
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 56 6
18319074 2008
3
Progression despite replacement of a myopathic form of coenzyme Q10 defect. 6 56
15326254 2004
4
Cerebellar ataxia and coenzyme Q10 deficiency. 56 6
12682339 2003
5
Primary Coenzyme Q10 Deficiency 6
28125198 2017
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 120) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ8A NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)SNV Pathogenic 807529 1:227149261-227149261 1:226961560-226961560
2 COQ8A NM_020247.5(COQ8A):c.656-1G>TSNV Pathogenic 807530 1:227165149-227165149 1:226977448-226977448
3 COQ8A NM_020247.5(COQ8A):c.1506+1G>ASNV Pathogenic 446283 rs974677376 1:227172357-227172357 1:226984656-226984656
4 COQ8A NM_020247.5(COQ8A):c.1396del (p.Glu466fs)deletion Pathogenic 523020 rs1553280621 1:227171934-227171934 1:226984233-226984233
5 COQ8A NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)SNV Pathogenic 3636 rs119468004 1:227173033-227173033 1:226985332-226985332
6 COQ8A NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)SNV Pathogenic 3637 rs119468005 1:227153420-227153420 1:226965719-226965719
7 COQ8A NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)SNV Pathogenic 3638 rs119468006 1:227169812-227169812 1:226982111-226982111
8 COQ8A NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)SNV Pathogenic 3639 rs119468006 1:227169812-227169812 1:226982111-226982111
9 COQ8A NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)duplication Pathogenic 3640 rs387906298 1:227174305-227174306 1:226986604-226986605
10 COQ8A NM_020247.5(COQ8A):c.1398+2T>CSNV Pathogenic 3641 rs606231138 1:227171938-227171938 1:226984237-226984237
11 COQ8A NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs)indel Pathogenic 3642 rs606231139 1:227153023-227153044 1:226965322-226965343
12 COQ8A NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)SNV Pathogenic 3643 rs119468008 1:227172611-227172611 1:226984910-226984910
13 COQ8A NM_020247.5(COQ8A):c.1747_1749ACC[1] (p.Thr584del)short repeat Pathogenic 3644 rs387906299 1:227174240-227174242 1:226986539-226986541
14 COQ8A NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)SNV Pathogenic 3646 rs119468009 1:227173027-227173027 1:226985326-226985326
15 COQ8A NM_020247.5(COQ8A):c.1358del (p.Leu453fs)deletion Pathogenic 801627 1:227171896-227171896 1:226984195-226984195
16 COQ8A NM_020247.5(COQ8A):c.1332_1333CA[1] (p.Thr445fs)short repeat Pathogenic 210096 rs797045217 1:227171870-227171871 1:226984169-226984170
17 COQ8A NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)SNV Pathogenic 242458 rs771578775 1:227170697-227170697 1:226982996-226982996
18 COQ8A NC_000001.10:g.227150977_227195656del44680deletion Pathogenic 375332 1:227150977-227195656 1:226963276-227007955
19 COQ8A NM_020247.5(COQ8A):c.1081-1_1082dupduplication Pathogenic 375333 rs1057519344 1:227171250-227171251 1:226983549-226983550
20 COQ8A NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter)SNV Pathogenic 375329 rs747150601 1:227171308-227171308 1:226983607-226983607
21 COQ8A NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)SNV Pathogenic 375331 rs1057519343 1:227172593-227172593 1:226984892-226984892
22 COQ8A NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)SNV Pathogenic 375330 rs752130338 1:227174338-227174338 1:226986637-226986637
23 COQ8A NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)SNV Likely pathogenic 372655 rs201908721 1:227170420-227170420 1:226982719-226982719
24 COQ8A NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro)SNV Likely pathogenic 392924 rs781518112 1:227169827-227169827 1:226982126-226982126
25 COQ8A NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met)SNV Likely pathogenic 210097 rs578189699 1:227172602-227172602 1:226984901-226984901
26 COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)duplication Likely pathogenic 183336 rs1553281318 1:227174237-227174238 1:226986536-226986537
27 COQ8A NM_020247.5(COQ8A):c.1007del (p.Phe336fs)deletion Likely pathogenic 225294 rs1085307053 1:227170661-227170661 1:226982960-226982960
28 COQ8A NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs)deletion Likely pathogenic 666349 1:227173006-227173007 1:226985305-226985306
29 COQ8A NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)SNV Likely pathogenic 666357 1:227153421-227153421 1:226965720-226965720
30 COQ8A NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)SNV Likely pathogenic 434087 rs140246430 1:227170426-227170426 1:226982725-226982725
31 COQ8A NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp)SNV Likely pathogenic 434088 rs373971613 1:227170655-227170655 1:226982954-226982954
32 COQ8A NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)SNV Likely pathogenic 807531 1:227170668-227170668 1:226982967-226982967
33 COQ8A NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)SNV Conflicting interpretations of pathogenicity 434089 rs763311061 1:227171528-227171528 1:226983827-226983827
34 COQ8A NM_020247.5(COQ8A):c.1752C>T (p.Thr584=)SNV Conflicting interpretations of pathogenicity 719067 1:227174246-227174246 1:226986545-226986545
35 COQ8A NM_020247.5(COQ8A):c.1776C>T (p.Pro592=)SNV Conflicting interpretations of pathogenicity 716523 1:227174270-227174270 1:226986569-226986569
36 COQ8A NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)SNV Conflicting interpretations of pathogenicity 731772 1:227171261-227171261 1:226983560-226983560
37 COQ8A NM_020247.5(COQ8A):c.1257-9C>TSNV Conflicting interpretations of pathogenicity 743002 1:227171786-227171786 1:226984085-226984085
38 COQ8A NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)SNV Conflicting interpretations of pathogenicity 763998 1:227171933-227171933 1:226984232-226984232
39 COQ8A NM_020247.5(COQ8A):c.63G>A (p.Ala21=)SNV Conflicting interpretations of pathogenicity 136294 rs11549709 1:227149149-227149149 1:226961448-226961448
40 COQ8A NM_020247.5(COQ8A):c.67G>A (p.Val23Met)SNV Conflicting interpretations of pathogenicity 136295 rs35582308 1:227149153-227149153 1:226961452-226961452
41 COQ8A NM_020247.5(COQ8A):c.258A>C (p.Ala86=)SNV Conflicting interpretations of pathogenicity 136298 rs137872711 1:227152781-227152781 1:226965080-226965080
42 COQ8A NM_020247.5(COQ8A):c.291C>T (p.Ser97=)SNV Conflicting interpretations of pathogenicity 136299 rs111529228 1:227152814-227152814 1:226965113-226965113
43 COQ8A NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)SNV Conflicting interpretations of pathogenicity 296020 rs147097934 1:227171796-227171796 1:226984095-226984095
44 COQ8A NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)SNV Conflicting interpretations of pathogenicity 296027 rs886046069 1:227174207-227174207 1:226986506-226986506
45 COQ8A NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)duplication Conflicting interpretations of pathogenicity 214046 rs764847439 1:227174332-227174333 1:226986631-226986632
46 COQ8A NM_020247.5(COQ8A):c.1572+7G>ASNV Conflicting interpretations of pathogenicity 377445 rs371874740 1:227172649-227172649 1:226984948-226984948
47 COQ8A NM_020247.5(COQ8A):c.*727C>TSNV Conflicting interpretations of pathogenicity 296047 rs16846762 1:227175165-227175165 1:226987464-226987464
48 COQ8A NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)SNV Conflicting interpretations of pathogenicity 296029 rs774789966 1:227174303-227174303 1:226986602-226986602
49 COQ8A NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)SNV Conflicting interpretations of pathogenicity 225030 rs199874519 1:227174159-227174159 1:226986458-226986458
50 COQ8A NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)SNV Conflicting interpretations of pathogenicity 296015 rs145034527 1:227169808-227169808 1:226982107-226982107

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
10.53 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 9.85 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
2 mitochondrial inner membrane GO:0005743 9.56 COQ9 COQ7 COQ6 COQ5 COQ4 COQ3
3 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 9.32 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
2 isoprenoid biosynthetic process GO:0008299 9.16 PDSS1 COQ2
3 glycerol metabolic process GO:0006071 8.96 COQ3 COQ2

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 9.17 PDSS1 COQ8B COQ8A COQ5 COQ3 COQ2
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 9.16 COQ7 COQ6
3 prenyltransferase activity GO:0004659 8.96 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
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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