COQ10D5
MCID: CNZ009
MIFTS: 20

Coenzyme Q10 Deficiency, Primary, 5 (COQ10D5)

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

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 5

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 5:

Name: Coenzyme Q10 Deficiency, Primary, 5 58 12 76 30 13 6 74
Coq10d5 58 12 76
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome 60
Coenzyme Q10 Deficiency, Primary, Type 5 41
Primary Coenzyme Q10 Deficiency 5 12

Characteristics:

Orphanet epidemiological data:

60
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated october 2016)
the patients died in infancy or early childhood


HPO:

33
coenzyme q10 deficiency, primary, 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 5

UniProtKB/Swiss-Prot : 76 Coenzyme Q10 deficiency, primary, 5: 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.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 5, is also known as coq10d5. An important gene associated with Coenzyme Q10 Deficiency, Primary, 5 is COQ9 (Coenzyme Q9). Related phenotypes are seizures and hyperreflexia

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ9 on chromosome 16q21.

Description from OMIM: 614654

Related Diseases for Coenzyme Q10 Deficiency, Primary, 5

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 5

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 5:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hyperreflexia 33 HP:0001347
3 respiratory insufficiency 33 HP:0002093
4 global developmental delay 33 HP:0001263
5 hypertonia 33 HP:0001276
6 feeding difficulties 33 HP:0011968
7 intrauterine growth retardation 33 HP:0001511
8 dystonia 33 HP:0001332
9 increased serum lactate 33 HP:0002151
10 lactic acidosis 33 HP:0003128
11 left ventricular hypertrophy 33 HP:0001712
12 cerebellar atrophy 33 HP:0001272
13 weak cry 33 HP:0001612
14 generalized hypotonia 33 HP:0001290
15 encephalopathy 33 HP:0001298
16 cerebral atrophy 33 HP:0002059
17 postnatal microcephaly 33 HP:0005484
18 hyperalaninemia 33 HP:0003348
19 bradycardia 33 HP:0001662

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
hyperreflexia

Neurologic Central Nervous System:
global developmental delay
dystonia
cerebellar atrophy
encephalopathy
cerebral atrophy
more
Laboratory Abnormalities:
increased serum lactate
increased serum alanine

Voice:
weak cry

Muscle Soft Tissue:
hypotonia
decreased coenzyme q10
decreased activity of complexes ii+iii

Abdomen Gastrointestinal:
poor feeding

Respiratory:
respiratory insufficiency

Growth Other:
intrauterine growth retardation

Metabolic Features:
lactic acidosis

Cardiovascular Heart:
bradycardia
left ventricular hypertrophy (in 1 of 2 patients)

Head And Neck Head:
microcephaly, postnatal

Genitourinary Kidneys:
renal tubulopathy (in 1 of 2 patients)

Clinical features from OMIM:

614654

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 5

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 5

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 5

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 5:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 5 30 COQ9

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 5

Publications for Coenzyme Q10 Deficiency, Primary, 5

Variations for Coenzyme Q10 Deficiency, Primary, 5

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ9 NM_020312.3(COQ9): c.521+1delG deletion Pathogenic rs786205897 GRCh38 Chromosome 16, 57456647: 57456647
2 COQ9 NM_020312.3(COQ9): c.521+1delG deletion Pathogenic rs786205897 GRCh37 Chromosome 16, 57490559: 57490559
3 COQ9 NM_020312.3(COQ9): c.730C> T (p.Arg244Ter) single nucleotide variant Pathogenic rs267606751 GRCh37 Chromosome 16, 57493495: 57493495
4 COQ9 NM_020312.3(COQ9): c.730C> T (p.Arg244Ter) single nucleotide variant Pathogenic rs267606751 GRCh38 Chromosome 16, 57459583: 57459583

Expression for Coenzyme Q10 Deficiency, Primary, 5

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 5.

Pathways for Coenzyme Q10 Deficiency, Primary, 5

GO Terms for Coenzyme Q10 Deficiency, Primary, 5

Sources for Coenzyme Q10 Deficiency, Primary, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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