MCID: CNZ005
MIFTS: 25

Coenzyme Q10 Deficiency, Primary, 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 75 29 13 6
Scar9 57 53 59 75
Autosomal Recessive Cerebellar Ataxia Type 2 53 59 75
Arca2 53 59 75
Autosomal Recessive Ataxia Due to Coenzyme Q10 Deficiency 53 59
Autosomal Recessive Ataxia Due to Ubiquinone Deficiency 53 59
Autosomal Recessive Spinocerebellar Ataxia Type 9 53 59
Spinocerebellar Ataxia, Autosomal Recessive 9 57 73
Coq10d4 57 75
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9 ) 40
Spinocerebellar Ataxia, Autosomal Recessive 9; Scar9 57
Autosomal Recessive Spinocerebellar Ataxia 9 53
Spinocerebellar Ataxia Autosomal Recessive 9 75
Coenzyme Q10 Deficiency, Primary, Type 4 ) 40

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive ataxia due to ubiquinone deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
coenzyme q10 deficiency, primary, 4:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 4

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139485Disease definitionThis 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 recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 4, is also known as scar9, and has symptoms including cerebellar ataxia An important gene associated with Coenzyme Q10 Deficiency, Primary, 4 is COQ8A (Coenzyme Q8A). Related phenotypes are seizures and tremor

OMIM : 57 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 : 75 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

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
hyperreflexia

Metabolic Features:
lactic acidosis

Muscle Soft Tissue:
exercise intolerance
proximal muscle weakness
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

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

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Occasional (29-5%) HP:0001250
2 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
3 hyperreflexia 59 32 Occasional (29-5%) HP:0001347
4 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
5 abnormal pyramidal signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
6 hearing impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0000365
7 emg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0003457
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
10 neurodevelopmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0012758
11 dystonia 59 32 very rare (1%) Very rare (<4-1%) HP:0001332
12 increased serum lactate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002151
13 lactic acidosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003128
14 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
15 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
16 gynecomastia 59 32 very rare (1%) Very rare (<4-1%) HP:0000771
17 cerebellar atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001272
18 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
19 exercise intolerance 59 32 frequent (33%) Frequent (79-30%) HP:0003546
20 proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003701
21 talipes cavus equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0004696
22 central hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0011398
23 focal t2 hypointense basal ganglia lesion 59 32 frequent (33%) Frequent (79-30%) HP:0012752
24 increased csf lactate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002490
25 intellectual disability 32 occasional (7.5%) HP:0001249
26 ataxia 32 HP:0001251
27 global developmental delay 32 occasional (7.5%) HP:0001263
28 pes cavus 32 HP:0001761
29 increased intramyocellular lipid droplets 32 HP:0012240
30 generalized hypotonia 32 HP:0001290

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

Variations for Coenzyme Q10 Deficiency, Primary, 4

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

75 (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

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

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ8A NM_020247.4(COQ8A): c.1651G> A (p.Glu551Lys) single nucleotide variant Pathogenic rs119468004 GRCh37 Chromosome 1, 227173033: 227173033
2 COQ8A NM_020247.4(COQ8A): c.1651G> A (p.Glu551Lys) single nucleotide variant Pathogenic rs119468004 GRCh38 Chromosome 1, 226985332: 226985332
3 COQ8A NM_020247.4(COQ8A): c.637C> T (p.Arg213Trp) single nucleotide variant Pathogenic rs119468005 GRCh37 Chromosome 1, 227153420: 227153420
4 COQ8A NM_020247.4(COQ8A): c.637C> T (p.Arg213Trp) single nucleotide variant Pathogenic rs119468005 GRCh38 Chromosome 1, 226965719: 226965719
5 COQ8A NM_020247.4(COQ8A): c.815G> T (p.Gly272Val) single nucleotide variant Pathogenic rs119468006 GRCh37 Chromosome 1, 227169812: 227169812
6 COQ8A NM_020247.4(COQ8A): c.815G> T (p.Gly272Val) single nucleotide variant Pathogenic rs119468006 GRCh38 Chromosome 1, 226982111: 226982111
7 COQ8A NM_020247.4(COQ8A): c.815G> A (p.Gly272Asp) single nucleotide variant Pathogenic rs119468006 GRCh37 Chromosome 1, 227169812: 227169812
8 COQ8A NM_020247.4(COQ8A): c.815G> A (p.Gly272Asp) single nucleotide variant Pathogenic rs119468006 GRCh38 Chromosome 1, 226982111: 226982111
9 COQ8A NM_020247.4(COQ8A): c.1813dupG (p.Glu605Glyfs) duplication Pathogenic rs387906298 GRCh37 Chromosome 1, 227174307: 227174307
10 COQ8A NM_020247.4(COQ8A): c.1813dupG (p.Glu605Glyfs) duplication Pathogenic rs387906298 GRCh38 Chromosome 1, 226986606: 226986606
11 COQ8A NM_020247.4(COQ8A): c.1398+2T> C single nucleotide variant Pathogenic rs606231138 GRCh38 Chromosome 1, 226984237: 226984237
12 COQ8A NM_020247.4(COQ8A): c.1398+2T> C single nucleotide variant Pathogenic rs606231138 GRCh37 Chromosome 1, 227171938: 227171938
13 COQ8A NM_020247.4(COQ8A): c.500_521del22insTTG (p.Gln167Leufs) indel Pathogenic rs606231139 GRCh38 Chromosome 1, 226965322: 226965343
14 COQ8A NM_020247.4(COQ8A): c.500_521del22insTTG (p.Gln167Leufs) indel Pathogenic rs606231139 GRCh37 Chromosome 1, 227153023: 227153044
15 COQ8A NM_020247.4(COQ8A): c.1541A> G (p.Tyr514Cys) single nucleotide variant Pathogenic rs119468008 GRCh37 Chromosome 1, 227172611: 227172611
16 COQ8A NM_020247.4(COQ8A): c.1541A> G (p.Tyr514Cys) single nucleotide variant Pathogenic rs119468008 GRCh38 Chromosome 1, 226984910: 226984910
17 COQ8A NM_020247.4(COQ8A): c.1750_1752delACC (p.Thr584del) deletion Pathogenic rs387906299 GRCh37 Chromosome 1, 227174244: 227174246
18 COQ8A NM_020247.4(COQ8A): c.1750_1752delACC (p.Thr584del) deletion Pathogenic rs387906299 GRCh38 Chromosome 1, 226986543: 226986545
19 COQ8A NM_020247.4(COQ8A): c.1645G> A (p.Gly549Ser) single nucleotide variant Pathogenic rs119468009 GRCh37 Chromosome 1, 227173027: 227173027
20 COQ8A NM_020247.4(COQ8A): c.1645G> A (p.Gly549Ser) single nucleotide variant Pathogenic rs119468009 GRCh38 Chromosome 1, 226985326: 226985326
21 COQ8A NM_020247.4(COQ8A): c.1334_1335delCA (p.Thr445Argfs) deletion Pathogenic rs797045217 GRCh37 Chromosome 1, 227171872: 227171873
22 COQ8A NM_020247.4(COQ8A): c.1334_1335delCA (p.Thr445Argfs) deletion Pathogenic rs797045217 GRCh38 Chromosome 1, 226984171: 226984172
23 COQ8A NM_020247.4(COQ8A): c.1532C> T (p.Thr511Met) single nucleotide variant Likely pathogenic rs578189699 GRCh37 Chromosome 1, 227172602: 227172602
24 COQ8A NM_020247.4(COQ8A): c.1532C> T (p.Thr511Met) single nucleotide variant Likely pathogenic rs578189699 GRCh38 Chromosome 1, 226984901: 226984901
25 COQ8A NM_020247.4(COQ8A): c.1844dupG (p.Ser616Leufs) duplication Pathogenic rs863223885 GRCh37 Chromosome 1, 227174338: 227174338
26 COQ8A NM_020247.4(COQ8A): c.1844dupG (p.Ser616Leufs) duplication Pathogenic rs863223885 GRCh38 Chromosome 1, 226986637: 226986637
27 COQ8A NM_020247.4(COQ8A): c.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs771578775 GRCh37 Chromosome 1, 227170697: 227170697
28 COQ8A NM_020247.4(COQ8A): c.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs771578775 GRCh38 Chromosome 1, 226982996: 226982996
29 COQ8A NM_020247.4(COQ8A): c.1007delT (p.Phe336Serfs) deletion Likely pathogenic rs1085307053 GRCh37 Chromosome 1, 227170662: 227170662
30 COQ8A NM_020247.4(COQ8A): c.1007delT (p.Phe336Serfs) deletion Likely pathogenic rs1085307053 GRCh38 Chromosome 1, 226982961: 226982961
31 COQ8A NM_020247.4(COQ8A): c.638_645delGGCTGGCC (p.Arg213Glnfs) deletion Pathogenic rs886042265 GRCh37 Chromosome 1, 227153421: 227153428
32 COQ8A NM_020247.4(COQ8A): c.638_645delGGCTGGCC (p.Arg213Glnfs) deletion Pathogenic rs886042265 GRCh38 Chromosome 1, 226965720: 226965727
33 COQ8A NM_020247.4(COQ8A): c.1742dupA (p.Ser582Glufs) duplication Pathogenic rs886043382 GRCh37 Chromosome 1, 227174236: 227174236
34 COQ8A NM_020247.4(COQ8A): c.1742dupA (p.Ser582Glufs) duplication Pathogenic rs886043382 GRCh38 Chromosome 1, 226986535: 226986535
35 COQ8A NM_020247.4(COQ8A): c.811C> T (p.Arg271Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145034527 GRCh38 Chromosome 1, 226982107: 226982107
36 COQ8A NM_020247.4(COQ8A): c.811C> T (p.Arg271Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs145034527 GRCh37 Chromosome 1, 227169808: 227169808
37 COQ8A NM_020247.4(COQ8A): c.1660-9T> C single nucleotide variant Benign rs7552783 GRCh37 Chromosome 1, 227174145: 227174145
38 COQ8A NM_020247.4(COQ8A): c.1660-9T> C single nucleotide variant Benign rs7552783 GRCh38 Chromosome 1, 226986444: 226986444
39 COQ8A NM_020247.4(COQ8A): c.895C> T (p.Arg299Trp) single nucleotide variant Likely pathogenic rs201908721 GRCh37 Chromosome 1, 227170420: 227170420
40 COQ8A NM_020247.4(COQ8A): c.895C> T (p.Arg299Trp) single nucleotide variant Likely pathogenic rs201908721 GRCh38 Chromosome 1, 226982719: 226982719
41 COQ8A NC_000001.11: g.226963276_227007955del44680 deletion Pathogenic GRCh38 Chromosome 1, 226963276: 227007955
42 COQ8A NC_000001.11: g.226963276_227007955del44680 deletion Pathogenic GRCh37 Chromosome 1, 227150977: 227195656
43 COQ8A NM_020247.4(COQ8A): c.1081-1_1082dupGTA duplication Pathogenic rs1057519344 GRCh37 Chromosome 1, 227171252: 227171254
44 COQ8A NM_020247.4(COQ8A): c.1081-1_1082dupGTA duplication Pathogenic rs1057519344 GRCh38 Chromosome 1, 226983551: 226983553
45 COQ8A NM_020247.4(COQ8A): c.1136T> A (p.Leu379Ter) single nucleotide variant Pathogenic rs747150601 GRCh37 Chromosome 1, 227171308: 227171308
46 COQ8A NM_020247.4(COQ8A): c.1136T> A (p.Leu379Ter) single nucleotide variant Pathogenic rs747150601 GRCh38 Chromosome 1, 226983607: 226983607
47 COQ8A NM_020247.4(COQ8A): c.1523T> C (p.Phe508Ser) single nucleotide variant Pathogenic rs1057519343 GRCh38 Chromosome 1, 226984892: 226984892
48 COQ8A NM_020247.4(COQ8A): c.1523T> C (p.Phe508Ser) single nucleotide variant Pathogenic rs1057519343 GRCh37 Chromosome 1, 227172593: 227172593
49 COQ8A NM_020247.4(COQ8A): c.1844G> A (p.Gly615Asp) single nucleotide variant Pathogenic rs752130338 GRCh37 Chromosome 1, 227174338: 227174338
50 COQ8A NM_020247.4(COQ8A): c.1844G> A (p.Gly615Asp) single nucleotide variant Pathogenic rs752130338 GRCh38 Chromosome 1, 226986637: 226986637

Expression for Coenzyme Q10 Deficiency, Primary, 4

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Pathways for Coenzyme Q10 Deficiency, Primary, 4

GO Terms for Coenzyme Q10 Deficiency, Primary, 4

Sources for Coenzyme Q10 Deficiency, Primary, 4

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