COQ10D9
MCID: CNZ012
MIFTS: 18

Coenzyme Q10 Deficiency, Primary, 9 (COQ10D9)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 9

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 9:

Name: Coenzyme Q10 Deficiency, Primary, 9 57 72 6
Coq10d9 57 12 72
Primary Coenzyme Q10 Deficiency 9 12

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
nonprogressive disorder
onset in the first decade
one family has been reported (last curated september 2020)


HPO:

31
coenzyme q10 deficiency, primary, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112138
OMIM® 57 619028
OMIM Phenotypic Series 57 PS607426
MeSH 44 D028361
MedGen 41 CN283411

Summaries for Coenzyme Q10 Deficiency, Primary, 9

UniProtKB/Swiss-Prot : 72 Coenzyme Q10 deficiency, primary, 9: A form of coenzyme Q10 deficiency, 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. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 9, is also known as coq10d9. An important gene associated with Coenzyme Q10 Deficiency, Primary, 9 is COQ5 (Coenzyme Q5, Methyltransferase). Affiliated tissues include eye and brain, and related phenotypes are tremor and global developmental delay

Disease Ontology : 12 A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has material basis in mutation homozygous or compound heterozygous in COQ5 on chromosome 12q24.31.

OMIM® : 57 Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). (619028) (Updated 05-Apr-2021)

Related Diseases for Coenzyme Q10 Deficiency, Primary, 9

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 9

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 9:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 tremor 31 very rare (1%) HP:0001337
2 global developmental delay 31 very rare (1%) HP:0001263
3 myoclonus 31 very rare (1%) HP:0001336
4 dysmetria 31 very rare (1%) HP:0001310
5 encephalopathy 31 very rare (1%) HP:0001298
6 cerebellar atrophy 31 very rare (1%) HP:0001272
7 lower limb spasticity 31 very rare (1%) HP:0002061
8 impulsivity 31 very rare (1%) HP:0100710
9 short attention span 31 very rare (1%) HP:0000736
10 brisk reflexes 31 very rare (1%) HP:0001348
11 horizontal nystagmus 31 very rare (1%) HP:0000666
12 impaired tandem gait 31 very rare (1%) HP:0031629
13 slow saccadic eye movements 31 very rare (1%) HP:0000514
14 hypometric saccades 31 very rare (1%) HP:0000571
15 oppositional defiant disorder 31 very rare (1%) HP:0010865
16 type 2 muscle fiber predominance 31 very rare (1%) HP:0010602
17 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
dysmetria
unsteady gait
more
Growth Height:
short stature (1 patient)

Laboratory Abnormalities:
decreased levels of coq10

Head And Neck Eyes:
oculomotor apraxia
horizontal nystagmus
hypometric saccades
slow saccades

Muscle Soft Tissue:
increased type 2c fibers seen on muscle biopsy
decreased levels of coq10

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems (1 patient)

Clinical features from OMIM®:

619028 (Updated 05-Apr-2021)

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 9

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 9

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 9

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 9

MalaCards organs/tissues related to Coenzyme Q10 Deficiency, Primary, 9:

40
Eye, Brain

Publications for Coenzyme Q10 Deficiency, Primary, 9

Articles related to Coenzyme Q10 Deficiency, Primary, 9:

# Title Authors PMID Year
1
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. 57 6
29044765 2018

Variations for Coenzyme Q10 Deficiency, Primary, 9

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ5 NC_000012.11:g.120940098_120949687dup Duplication Pathogenic 978826 GRCh37: 12:120940097-120940098
GRCh38: 12:120502294-120502295

Expression for Coenzyme Q10 Deficiency, Primary, 9

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 9.

Pathways for Coenzyme Q10 Deficiency, Primary, 9

GO Terms for Coenzyme Q10 Deficiency, Primary, 9

Sources for Coenzyme Q10 Deficiency, Primary, 9

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