COQ10D5
MCID: CNZ009
MIFTS: 23

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 57 12 74 29 13 6 72
Coq10d5 57 12 74
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome 12 59
Coenzyme Q10 Deficiency, Primary, Type 5 40
Primary Coenzyme Q10 Deficiency 5 12

Characteristics:

Orphanet epidemiological data:

59
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
coenzyme q10 deficiency, primary, 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070242
MeSH 44 D028361
ICD10 via Orphanet 34 E88.8
Orphanet 59 ORPHA319678
UMLS 72 C3553374

Summaries for Coenzyme Q10 Deficiency, Primary, 5

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 614654 PS607426

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:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hyperreflexia 32 HP:0001347
3 respiratory insufficiency 32 HP:0002093
4 global developmental delay 32 HP:0001263
5 hypertonia 32 HP:0001276
6 generalized hypotonia 32 HP:0001290
7 feeding difficulties 32 HP:0011968
8 intrauterine growth retardation 32 HP:0001511
9 dystonia 32 HP:0001332
10 increased serum lactate 32 HP:0002151
11 lactic acidosis 32 HP:0003128
12 left ventricular hypertrophy 32 HP:0001712
13 cerebellar atrophy 32 HP:0001272
14 weak cry 32 HP:0001612
15 encephalopathy 32 HP:0001298
16 cerebral atrophy 32 HP:0002059
17 postnatal microcephaly 32 HP:0005484
18 hyperalaninemia 32 HP:0003348
19 bradycardia 32 HP:0001662

Symptoms via clinical synopsis from OMIM:

57
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 29 COQ9

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 5

Publications for Coenzyme Q10 Deficiency, Primary, 5

Articles related to Coenzyme Q10 Deficiency, Primary, 5:

# Title Authors PMID Year
1
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. 8 71
26081641 2016
2
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 8 71
19375058 2009
3
Primary Coenzyme Q10 Deficiency 71
28125198 2017
4
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. 8
23255162 2013
5
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 71
20495179 2010
6
Neonatal presentation of coenzyme Q10 deficiency. 8
11562630 2001

Variations for Coenzyme Q10 Deficiency, Primary, 5

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COQ9 NM_020312.4(COQ9): c.730C> T (p.Arg244Ter) single nucleotide variant Pathogenic rs267606751 16:57493495-57493495 16:57459583-57459583
2 COQ9 NM_020312.4(COQ9): c.521+1del deletion Pathogenic rs786205897 16:57490559-57490559 16:57456647-57456647
3 COQ9 NM_020312.4(COQ9): c.362T> C (p.Ile121Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs547254482 16:57486832-57486832 16:57452920-57452920

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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