COQ10D5
MCID: CNZ009
MIFTS: 37

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 72 29 13 6 70
Coq10d5 57 12 72
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®:

57 (Updated 20-May-2021)
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 : 72 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 hypercholesterolemia, familial, 4 and coenzyme q10 deficiency, primary, 1. An important gene associated with Coenzyme Q10 Deficiency, Primary, 5 is COQ9 (Coenzyme Q9), and among its related pathways/superpathways is Ubiquinol biosynthesis. Related phenotypes are hyperreflexia and respiratory insufficiency

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

Diseases related to Coenzyme Q10 Deficiency, Primary, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 4 9.8 PDSS1 COQ6
2 coenzyme q10 deficiency, primary, 1 9.8 COQ8A COQ2
3 mitochondrial myopathy 9.6 PDSS2 COQ9 COQ2
4 coenzyme q10 deficiency, primary, 2 9.6 PDSS1 COQ8B COQ6 COQ4
5 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.6 COQ8A COQ2
6 familial nephrotic syndrome 9.5 PDSS2 COQ8B COQ2
7 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.4 PDSS1 COQ9 COQ8A COQ2
8 focal segmental glomerulosclerosis 9.4 PDSS2 COQ8B COQ6
9 mitochondrial complex i deficiency, nuclear type 1 9.4 COQ9 COQ8A COQ4 COQ2
10 leigh syndrome with nephrotic syndrome 9.4 PDSS2 COQ8A COQ2
11 frasier syndrome 9.3 PDSS2 COQ8B COQ6 COQ2
12 nephrotic syndrome 9.3 PDSS2 COQ8B COQ6 COQ2
13 cardiofaciocutaneous syndrome 1 9.1 PDSS2 PDSS1 COQ8A COQ2
14 coenzyme q10 deficiency, primary, 4 9.1 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
15 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.1 PDSS2 PDSS1 COQ9 COQ6 COQ2
16 kearns-sayre syndrome 9.0 PDSS2 PDSS1 COQ9 COQ8A COQ2
17 coenzyme q10 deficiency, primary, 3 9.0 PDSS2 PDSS1 COQ9 COQ8B COQ6 COQ4
18 hereditary ataxia 9.0 PDSS2 PDSS1 COQ9 COQ8A COQ2
19 mitochondrial encephalomyopathy 8.8 PDSS2 PDSS1 COQ9 COQ8A COQ4 COQ2
20 coenzyme q10 deficiency, primary, 6 8.6 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
21 leigh syndrome 8.6 PDSS2 PDSS1 COQ9 COQ8A COQ6 COQ4
22 coenzyme q10 deficiency disease 8.4 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
23 coenzyme q10 deficiency, primary, 7 8.4 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
24 multiple acyl-coa dehydrogenase deficiency 8.3 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
hyperreflexia

Neurologic Central Nervous System:
global developmental delay
dystonia
encephalopathy
cerebellar atrophy
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 (Updated 20-May-2021)

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:

(show all 11)
# Title Authors PMID Year
1
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. 6 57
26081641 2016
2
Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency. 6 57
23255162 2013
3
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. 6 57
19375058 2009
4
β-RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice. 6
30482867 2019
5
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data. 6
29255295 2017
6
Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome. 6
28736527 2017
7
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. 6
25802402 2015
8
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. 6
22490322 2012
9
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6
20495179 2010
10
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. 6
20689595 2010
11
Neonatal presentation of coenzyme Q10 deficiency. 57
11562630 2001

Variations for Coenzyme Q10 Deficiency, Primary, 5

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

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC112469007 , COQ9 NM_020312.4(COQ9):c.73G>A (p.Val25Met) SNV Pathogenic 1027680 GRCh37: 16:57481490-57481490
GRCh38: 16:57447578-57447578
2 COQ9 NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) SNV Pathogenic 431 rs267606751 GRCh37: 16:57493495-57493495
GRCh38: 16:57459583-57459583
3 COQ9 NM_020312.4(COQ9):c.521+1del Deletion Pathogenic 192296 rs786205897 GRCh37: 16:57490559-57490559
GRCh38: 16:57456647-57456647
4 COQ9 NM_020312.4(COQ9):c.184C>T (p.His62Tyr) SNV Likely pathogenic 214241 rs757251412 GRCh37: 16:57485062-57485062
GRCh38: 16:57451150-57451150
5 COQ9 NM_020312.4(COQ9):c.449T>C (p.Val150Ala) SNV Uncertain significance 1032073 GRCh37: 16:57490486-57490486
GRCh38: 16:57456574-57456574
6 COQ9 NM_020312.4(COQ9):c.315G>A (p.Thr105=) SNV Uncertain significance 320007 rs201238241 GRCh37: 16:57486785-57486785
GRCh38: 16:57452873-57452873
7 COQ9 NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) SNV Uncertain significance 214243 rs76508383 GRCh37: 16:57493600-57493600
GRCh38: 16:57459688-57459688
8 COQ9 NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) SNV Uncertain significance 214245 rs547254482 GRCh37: 16:57486832-57486832
GRCh38: 16:57452920-57452920
9 LOC112469007 , COQ9 NM_020312.4(COQ9):c.71C>T (p.Pro24Leu) SNV Uncertain significance 887925 GRCh37: 16:57481488-57481488
GRCh38: 16:57447576-57447576
10 COQ9 NM_020312.4(COQ9):c.163C>A (p.Pro55Thr) SNV Uncertain significance 887926 GRCh37: 16:57485041-57485041
GRCh38: 16:57451129-57451129
11 COQ9 NM_020312.4(COQ9):c.*545G>T SNV Uncertain significance 887978 GRCh37: 16:57495081-57495081
GRCh38: 16:57461169-57461169
12 LOC112469007 , COQ9 NM_020312.4(COQ9):c.-25C>G SNV Uncertain significance 320002 rs547268811 GRCh37: 16:57481393-57481393
GRCh38: 16:57447481-57447481
13 LOC112469007 , COQ9 NM_020312.4(COQ9):c.-27G>C SNV Uncertain significance 886670 GRCh37: 16:57481391-57481391
GRCh38: 16:57447479-57447479
14 LOC112469007 , COQ9 NM_020312.4(COQ9):c.20C>T (p.Ser7Phe) SNV Uncertain significance 887924 GRCh37: 16:57481437-57481437
GRCh38: 16:57447525-57447525
15 COQ9 NM_020312.4(COQ9):c.74-13G>A SNV Uncertain significance 136992 rs181356497 GRCh37: 16:57484939-57484939
GRCh38: 16:57451027-57451027
16 COQ9 NM_020312.4(COQ9):c.*630A>G SNV Uncertain significance 320019 rs886052184 GRCh37: 16:57495166-57495166
GRCh38: 16:57461254-57461254
17 COQ9 NM_020312.4(COQ9):c.*492C>T SNV Uncertain significance 320016 rs550304608 GRCh37: 16:57495028-57495028
GRCh38: 16:57461116-57461116
18 COQ9 NM_020312.4(COQ9):c.*74G>A SNV Uncertain significance 320011 rs886052181 GRCh37: 16:57494610-57494610
GRCh38: 16:57460698-57460698
19 COQ9 NM_020312.4(COQ9):c.305G>A (p.Arg102His) SNV Uncertain significance 320006 rs748239782 GRCh37: 16:57486775-57486775
GRCh38: 16:57452863-57452863
20 COQ9 NM_020312.4(COQ9):c.*565G>T SNV Uncertain significance 320017 rs886052183 GRCh37: 16:57495101-57495101
GRCh38: 16:57461189-57461189
21 COQ9 NM_020312.4(COQ9):c.812G>A (p.Arg271His) SNV Uncertain significance 320010 rs774033422 GRCh37: 16:57493577-57493577
GRCh38: 16:57459665-57459665
22 COQ9 NM_020312.4(COQ9):c.*622A>G SNV Uncertain significance 320018 rs534696904 GRCh37: 16:57495158-57495158
GRCh38: 16:57461246-57461246
23 COQ9 NM_020312.4(COQ9):c.404C>T (p.Ala135Val) SNV Uncertain significance 320009 rs886052180 GRCh37: 16:57490441-57490441
GRCh38: 16:57456529-57456529
24 COQ9 NM_020312.4(COQ9):c.*134A>G SNV Uncertain significance 320013 rs886052182 GRCh37: 16:57494670-57494670
GRCh38: 16:57460758-57460758
25 COQ9 NM_020312.4(COQ9):c.378+9A>G SNV Uncertain significance 884775 GRCh37: 16:57486857-57486857
GRCh38: 16:57452945-57452945
26 COQ9 NM_020312.4(COQ9):c.379-9C>T SNV Uncertain significance 884776 GRCh37: 16:57490407-57490407
GRCh38: 16:57456495-57456495
27 COQ9 NM_020312.4(COQ9):c.679A>G (p.Met227Val) SNV Uncertain significance 884777 GRCh37: 16:57492230-57492230
GRCh38: 16:57458318-57458318
28 COQ9 NM_020312.4(COQ9):c.849G>C (p.Met283Ile) SNV Uncertain significance 885717 GRCh37: 16:57493614-57493614
GRCh38: 16:57459702-57459702
29 COQ9 NM_020312.4(COQ9):c.*168A>G SNV Uncertain significance 886722 GRCh37: 16:57494704-57494704
GRCh38: 16:57460792-57460792
30 COQ9 NM_020312.4(COQ9):c.*378G>A SNV Uncertain significance 886723 GRCh37: 16:57494914-57494914
GRCh38: 16:57461002-57461002
31 COQ9 NM_020312.4(COQ9):c.323T>G (p.Leu108Arg) SNV Uncertain significance 214248 rs11547480 GRCh37: 16:57486793-57486793
GRCh38: 16:57452881-57452881
32 COQ9 NM_020312.4(COQ9):c.337G>A (p.Ala113Thr) SNV Likely benign 320008 rs377307935 GRCh37: 16:57486807-57486807
GRCh38: 16:57452895-57452895
33 COQ9 NM_020312.4(COQ9):c.240C>G (p.Pro80=) SNV Likely benign 320005 rs2301773 GRCh37: 16:57485118-57485118
GRCh38: 16:57451206-57451206
34 COQ9 NM_020312.4(COQ9):c.625C>G (p.Leu209Val) SNV Likely benign 136988 rs78846023 GRCh37: 16:57492176-57492176
GRCh38: 16:57458264-57458264
35 COQ9 NM_020312.4(COQ9):c.*100C>T SNV Likely benign 320012 rs373048666 GRCh37: 16:57494636-57494636
GRCh38: 16:57460724-57460724
36 COQ9 NM_020312.4(COQ9):c.921+11C>A SNV Likely benign 136990 rs75908124 GRCh37: 16:57494027-57494027
GRCh38: 16:57460115-57460115
37 COQ9 NM_020312.4(COQ9):c.826C>T (p.Arg276Trp) SNV Likely benign 377744 rs143587648 GRCh37: 16:57493591-57493591
GRCh38: 16:57459679-57459679
38 COQ9 NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) SNV Benign/Likely benign 214240 rs140264612 GRCh37: 16:57484957-57484957
GRCh38: 16:57451045-57451045
39 COQ9 NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) SNV Benign 136989 rs61730662 GRCh37: 16:57493629-57493629
GRCh38: 16:57459717-57459717
40 COQ9 NM_020312.4(COQ9):c.102G>A (p.Pro34=) SNV Benign 136993 rs223864 GRCh37: 16:57484980-57484980
GRCh38: 16:57451068-57451068
41 COQ9 NM_020312.4(COQ9):c.921+13C>T SNV Benign 136991 rs115677652 GRCh37: 16:57494029-57494029
GRCh38: 16:57460117-57460117
42 COQ9 NM_020312.4(COQ9):c.*456C>A SNV Benign 320014 rs223869 GRCh37: 16:57494992-57494992
GRCh38: 16:57461080-57461080
43 COQ9 NM_020312.4(COQ9):c.*490T>C SNV Benign 320015 rs223870 GRCh37: 16:57495026-57495026
GRCh38: 16:57461114-57461114
44 COQ9 NM_020312.4(COQ9):c.*411C>T SNV Benign 886724 GRCh37: 16:57494947-57494947
GRCh38: 16:57461035-57461035

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.1 PDSS2 PDSS1 COQ9 COQ6 COQ2

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 mitochondrial inner membrane GO:0005743 9.56 COQ9 COQ6 COQ4 COQ2
2 mitochondrion GO:0005739 9.56 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
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 9.23 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
2 isoprenoid biosynthetic process GO:0008299 9.13 PDSS2 PDSS1 COQ2

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 9.72 PDSS2 PDSS1 COQ8B COQ8A COQ2
2 all-trans-decaprenyl-diphosphate synthase activity GO:0097269 9.26 PDSS2 PDSS1
3 trans-octaprenyltranstransferase activity GO:0050347 9.16 PDSS2 PDSS1
4 trans-hexaprenyltranstransferase activity GO:0000010 8.96 PDSS2 PDSS1
5 prenyltransferase activity GO:0004659 8.8 PDSS2 PDSS1 COQ2

Sources for Coenzyme Q10 Deficiency, Primary, 5

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