COQ10D5
MCID: CNZ009
MIFTS: 35

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 56 12 73 29 13 6 71
Coq10d5 56 12 73
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome 12 58
Primary Coenzyme Q10 Deficiency 5 12 15
Coenzyme Q10 Deficiency, Primary, Type 5 39

Characteristics:

Orphanet epidemiological data:

58
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
coenzyme q10 deficiency, primary, 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Coenzyme Q10 Deficiency, Primary, 5

UniProtKB/Swiss-Prot : 73 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, also known as coq10d5, is related to nephrotic syndrome and hereditary ataxia. An important gene associated with Coenzyme Q10 Deficiency, Primary, 5 is COQ9 (Coenzyme Q9), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Ubiquinol biosynthesis. 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

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 5:



Diseases related to Coenzyme Q10 Deficiency, Primary, 5

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 5

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 hyperreflexia 31 HP:0001347
3 respiratory insufficiency 31 HP:0002093
4 global developmental delay 31 HP:0001263
5 feeding difficulties 31 HP:0011968
6 intrauterine growth retardation 31 HP:0001511
7 hypertonia 31 HP:0001276
8 generalized hypotonia 31 HP:0001290
9 dystonia 31 HP:0001332
10 increased serum lactate 31 HP:0002151
11 lactic acidosis 31 HP:0003128
12 left ventricular hypertrophy 31 HP:0001712
13 weak cry 31 HP:0001612
14 cerebellar atrophy 31 HP:0001272
15 encephalopathy 31 HP:0001298
16 cerebral atrophy 31 HP:0002059
17 postnatal microcephaly 31 HP:0005484
18 hyperalaninemia 31 HP:0003348
19 bradycardia 31 HP:0001662

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Coenzyme Q10 Deficiency, Primary, 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.8 COQ8A
2 Decreased substrate adherent cell growth GR00193-A-3 8.8 COQ8A COQ8B

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency, Primary, 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 COQ4 COQ6 COQ8B COQ9 PDSS1 PDSS2

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. 56 6
26081641 2016
2
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 56 6
19375058 2009
3
Primary Coenzyme Q10 Deficiency 6
28125198 2017
4
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. 56
23255162 2013
5
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6
20495179 2010
6
Neonatal presentation of coenzyme Q10 deficiency. 56
11562630 2001

Variations for Coenzyme Q10 Deficiency, Primary, 5

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ9 NM_020312.4(COQ9):c.521+1deldeletion Pathogenic 192296 rs786205897 16:57490559-57490559 16:57456647-57456647
2 COQ9 NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)SNV Pathogenic 431 rs267606751 16:57493495-57493495 16:57459583-57459583
3 COQ9 NM_020312.4(COQ9):c.362T>C (p.Ile121Thr)SNV Conflicting interpretations of pathogenicity 214245 rs547254482 16:57486832-57486832 16:57452920-57452920
4 COQ9 NM_020312.4(COQ9):c.184C>T (p.His62Tyr)SNV Likely benign 214241 rs757251412 16:57485062-57485062 16:57451150-57451150

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

Cellular components related to Coenzyme Q10 Deficiency, Primary, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
2 mitochondrial inner membrane GO:0005743 9.43 COQ9 COQ6 COQ4
3 transferase complex GO:1990234 9.16 PDSS2 PDSS1
4 extrinsic component of mitochondrial inner membrane GO:0031314 8.92 COQ8B COQ8A COQ6 COQ4

Biological processes related to Coenzyme Q10 Deficiency, Primary, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 9.17 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
2 isoprenoid biosynthetic process GO:0008299 8.96 PDSS2 PDSS1

Molecular functions related to Coenzyme Q10 Deficiency, Primary, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.46 PDSS2 PDSS1 COQ8B COQ8A
2 trans-octaprenyltranstransferase activity GO:0050347 8.96 PDSS2 PDSS1
3 trans-hexaprenyltranstransferase activity GO:0000010 8.62 PDSS2 PDSS1

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 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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