COQ10D7
MCID: CNZ010
MIFTS: 41

Coenzyme Q10 Deficiency, Primary, 7 (COQ10D7)

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

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 7

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 7:

Name: Coenzyme Q10 Deficiency, Primary, 7 57 12 73 29 6
Coq10d7 57 12 73
Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome 12 58
Coq4-Related Neonatal Encephalomyopathy 12 58
Primary Coenzyme Q10 Deficiency 7 12 15
Coenzyme Q10 Deficiency, Primary, Type 7 39

Characteristics:

Orphanet epidemiological data:

58
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood,infantile;

OMIM®:

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

Miscellaneous:
prenatal onset or onset at birth
most patients die in the first days of life


HPO:

31
coenzyme q10 deficiency, primary, 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Coenzyme Q10 Deficiency, Primary, 7

OMIM® : 57 Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). (616276) (Updated 05-Mar-2021)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 7, also known as coq10d7, is related to coenzyme q10 deficiency disease and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly. An important gene associated with Coenzyme Q10 Deficiency, Primary, 7 is COQ4 (Coenzyme Q4), and among its related pathways/superpathways are Biosynthesis of cofactors and Mitochondrial protein import. Affiliated tissues include heart and skeletal muscle, and related phenotypes are scoliosis and intrauterine growth retardation

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ4 on chromosome 9q34.11.

UniProtKB/Swiss-Prot : 73 Coenzyme Q10 deficiency, primary, 7: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.

Related Diseases for Coenzyme Q10 Deficiency, Primary, 7

Diseases related to Coenzyme Q10 Deficiency, Primary, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency disease 28.3 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
2 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
3 hypertrophic cardiomyopathy 10.2
4 lactic acidosis 10.2
5 hypotonia 10.2
6 coenzyme q10 deficiency, primary, 1 9.9 COQ8A COQ2
7 hypercholesterolemia, familial, 4 9.9 PDSS1 COQ6
8 familial nephrotic syndrome 9.8 COQ8B COQ2
9 nephrotic syndrome 9.8 PDSS2 COQ8B COQ6
10 coenzyme q10 deficiency, primary, 2 9.8 PDSS1 COQ8B COQ6 COQ4
11 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 9.7 COQ8A COQ2
12 leigh syndrome with nephrotic syndrome 9.7 PDSS2 COQ8A COQ2
13 frasier syndrome 9.6 PDSS2 COQ8B COQ2
14 mitochondrial disorders 9.6 CS COQ8A COQ4
15 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.5 PDSS1 COQ9 COQ8A COQ2
16 coenzyme q10 deficiency, primary, 6 9.5 PDSS1 COQ9 COQ8B COQ6 COQ4
17 focal segmental glomerulosclerosis 9.5 VCL PDSS2 COQ8B COQ6
18 cardiofaciocutaneous syndrome 1 9.5 PDSS2 PDSS1 COQ8A COQ2
19 coenzyme q10 deficiency, primary, 5 9.4 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
20 coenzyme q10 deficiency, primary, 3 9.3 PDSS2 PDSS1 COQ9 COQ8B COQ6 COQ4
21 hereditary ataxia 9.2 PDSS2 PDSS1 COQ9 COQ8A COQ2
22 kearns-sayre syndrome 9.2 PDSS2 PDSS1 COQ9 COQ8A COQ2
23 mitochondrial myopathy 9.2 PDSS2 CS COQ9 COQ2
24 mitochondrial encephalomyopathy 9.1 PDSS2 PDSS1 COQ9 COQ8A COQ4 COQ2
25 mitochondrial complex i deficiency, nuclear type 1 9.0 CS COQ9 COQ8A COQ7 COQ4 COQ2
26 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.8 PDSS2 PDSS1 CS COQ9 COQ6 COQ2
27 multiple acyl-coa dehydrogenase deficiency 8.8 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
28 coenzyme q10 deficiency, primary, 4 8.6 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
29 leigh syndrome 8.5 PDSS2 PDSS1 CS COQ9 COQ8A COQ6

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 7:



Diseases related to Coenzyme Q10 Deficiency, Primary, 7

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 7

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 7:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
3 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
4 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
5 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
6 epileptic encephalopathy 31 occasional (7.5%) HP:0200134
7 bradycardia 31 occasional (7.5%) HP:0001662
8 seizure 31 occasional (7.5%) HP:0001250
9 hypoplastic left heart 31 very rare (1%) HP:0004383
10 dysphagia 31 HP:0002015
11 respiratory insufficiency 31 HP:0002093
12 neonatal hypotonia 31 HP:0001319
13 increased serum lactate 31 HP:0002151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
increased serum lactate
increased urinary 2-oh glutaric acid (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Abdomen Gastrointestinal:
swallowing difficulties

Respiratory:
respiratory insufficiency, neonatal

Growth Other:
intrauterine growth retardation (in some patients)

Neurologic Central Nervous System:
seizures (in some patients)
cerebellar hypoplasia (in some patients)
epileptic encephalopathy (in some patients)
regression of psychomotor development (1 patient)
loss of ambulation (1 patient)

Muscle Soft Tissue:
hypotonia, neonatal
skeletal muscle biopsy shows decreased activity of coupled complex activity in the electron transport chain
increased activity of coupled complex activity in the electron transport chain (1 patient)
decreased coenzyme q10 levels

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
bradycardia (in some patients)
left ventricular hypoplasia (in some patients)

Skeletal Spine:
scoliosis (1 patient)

Neurologic Peripheral Nervous System:
sensorimotor polyneuropathy (1 patient)

Clinical features from OMIM®:

616276 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency, Primary, 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 COQ2 COQ4 COQ6 COQ7 COQ8B COQ9

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 7

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 7

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 7

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 7:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 7 29 COQ4

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 7

MalaCards organs/tissues related to Coenzyme Q10 Deficiency, Primary, 7:

40
Heart, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency, Primary, 7

Articles related to Coenzyme Q10 Deficiency, Primary, 7:

# Title Authors PMID Year
1
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 57 6
26185144 2015
2
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 6 57
25658047 2015
3
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 57
22368301 2012
4
[Primary coenzyme Q10 deficiency-7: a case report and literature review]. 61
33120466 2020
5
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. 61
31396399 2019

Variations for Coenzyme Q10 Deficiency, Primary, 7

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 7:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ4 NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln) Indel Pathogenic 267346 rs886040973 9:131085421-131085422 9:128323142-128323143
2 COQ4 NM_016035.5(COQ4):c.371G>T (p.Gly124Val) SNV Pathogenic 638639 rs1412692974 9:131088129-131088129 9:128325850-128325850
3 COQ4 NM_016035.5(COQ4):c.67dup (p.Ala23fs) Duplication Pathogenic 476186 rs1554796655 9:131085202-131085203 9:128322923-128322924
4 COQ4 NM_016035.5(COQ4):c.402+1G>C SNV Pathogenic 379740 rs747779231 9:131088161-131088161 9:128325882-128325882
5 COQ4 NM_016035.5(COQ4):c.23_33del (p.Val8fs) Deletion Pathogenic 280320 rs886041549 9:131085159-131085169 9:128322880-128322890
6 COQ4 NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) SNV Pathogenic 488488 rs1045118320 9:131094498-131094498 9:128332219-128332219
7 COQ4 NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) SNV Pathogenic 189199 rs774395996 9:131094462-131094462 9:128332183-128332183
8 COQ4 NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) SNV Pathogenic 189200 rs775607037 9:131094450-131094450 9:128332171-128332171
9 COQ4 NM_016035.5(COQ4):c.155T>C (p.Leu52Ser) SNV Pathogenic 189202 rs786204770 9:131085379-131085379 9:128323100-128323100
10 COQ4 NM_016035.5(COQ4):c.518_520CCA[1] (p.Thr174del) Microsatellite Pathogenic 189203 rs786204771 9:131094547-131094549 9:128332268-128332270
11 COQ4 NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) SNV Pathogenic 189204 rs766317663 9:131085414-131085414 9:128323135-128323135
12 COQ4 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) SNV Pathogenic/Likely pathogenic 189201 rs143441644 9:131095844-131095844 9:128333565-128333565
13 COQ4 NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) SNV Pathogenic/Likely pathogenic 488487 rs1163170578 9:131094466-131094466 9:128332187-128332187
14 COQ4 NM_016035.5(COQ4):c.300-2A>G SNV Likely pathogenic 577566 rs141303335 9:131088056-131088056 9:128325777-128325777
15 COQ4 NM_016035.5(COQ4):c.402+1G>A SNV Likely pathogenic 660116 rs747779231 9:131088161-131088161 9:128325882-128325882
16 COQ4 NM_016035.5(COQ4):c.70+2C>G SNV Likely pathogenic 476189 rs767839639 9:131085209-131085209 9:128322930-128322930
17 COQ4 NM_016035.5(COQ4):c.375C>T (p.Arg125=) SNV Uncertain significance 476180 rs375096994 9:131088133-131088133 9:128325854-128325854
18 COQ4 NM_016035.5(COQ4):c.752A>T (p.Glu251Val) SNV Uncertain significance 542772 rs764026213 9:131095878-131095878 9:128333599-128333599
19 COQ4 NM_016035.5(COQ4):c.445G>C (p.Asp149His) SNV Uncertain significance 567964 rs138560167 9:131094474-131094474 9:128332195-128332195
20 COQ4 NM_016035.5(COQ4):c.679C>T (p.Arg227Cys) SNV Uncertain significance 568322 rs767665620 9:131095805-131095805 9:128333526-128333526
21 COQ4 NM_016035.5(COQ4):c.402C>T (p.Asn134=) SNV Uncertain significance 568408 rs778542323 9:131088160-131088160 9:128325881-128325881
22 COQ4 NM_016035.5(COQ4):c.144G>T (p.Gln48His) SNV Uncertain significance 572296 rs765791496 9:131085368-131085368 9:128323089-128323089
23 COQ4 NM_016035.5(COQ4):c.701A>G (p.Asn234Ser) SNV Uncertain significance 573763 rs139974385 9:131095827-131095827 9:128333548-128333548
24 COQ4 NM_016035.5(COQ4):c.44T>C (p.Leu15Pro) SNV Uncertain significance 576758 rs879324921 9:131085181-131085181 9:128322902-128322902
25 COQ4 NM_016035.5(COQ4):c.103G>C (p.Gly35Arg) SNV Uncertain significance 641543 rs141078819 9:131085327-131085327 9:128323048-128323048
26 COQ4 NM_016035.5(COQ4):c.17G>A (p.Arg6His) SNV Uncertain significance 642163 rs371409929 9:131085154-131085154 9:128322875-128322875
27 COQ4 NM_016035.5(COQ4):c.376G>A (p.Glu126Lys) SNV Uncertain significance 647378 rs149398860 9:131088134-131088134 9:128325855-128325855
28 COQ4 NM_016035.5(COQ4):c.286G>A (p.Ala96Thr) SNV Uncertain significance 647580 rs770626680 9:131087505-131087505 9:128325226-128325226
29 COQ4 NM_016035.5(COQ4):c.394G>C (p.Asp132His) SNV Uncertain significance 649800 rs754445455 9:131088152-131088152 9:128325873-128325873
30 COQ4 NM_016035.5(COQ4):c.134C>T (p.Ser45Phe) SNV Uncertain significance 651003 rs377735694 9:131085358-131085358 9:128323079-128323079
31 COQ4 NM_016035.5(COQ4):c.115T>G (p.Ser39Ala) SNV Uncertain significance 653582 rs1222487313 9:131085339-131085339 9:128323060-128323060
32 COQ4 NM_016035.5(COQ4):c.648G>A (p.Ser216=) SNV Uncertain significance 656782 rs200848850 9:131095774-131095774 9:128333495-128333495
33 COQ4 NM_016035.5(COQ4):c.47C>G (p.Pro16Arg) SNV Uncertain significance 476183 rs775518369 9:131085184-131085184 9:128322905-128322905
34 COQ4 NM_016035.5(COQ4):c.689C>A (p.Pro230Gln) SNV Uncertain significance 476188 rs1016089045 9:131095815-131095815 9:128333536-128333536
35 COQ4 NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) SNV Uncertain significance 476179 rs776825296 9:131088128-131088128 9:128325849-128325849
36 COQ4 NM_016035.5(COQ4):c.461A>T (p.Tyr154Phe) SNV Uncertain significance 476181 rs147142262 9:131094490-131094490 9:128332211-128332211
37 COQ4 NM_016035.5(COQ4):c.32G>C (p.Arg11Pro) SNV Uncertain significance 476178 rs770687111 9:131085169-131085169 9:128322890-128322890
38 COQ4 NM_016035.5(COQ4):c.580A>G (p.Met194Val) SNV Uncertain significance 542774 rs150739190 9:131095176-131095176 9:128332897-128332897
39 COQ4 NM_016035.5(COQ4):c.340A>G (p.Lys114Glu) SNV Uncertain significance 566335 rs1564390909 9:131088098-131088098 9:128325819-128325819
40 COQ4 NM_016035.5(COQ4):c.385C>T (p.Arg129Cys) SNV Uncertain significance 566976 rs139770523 9:131088143-131088143 9:128325864-128325864
41 COQ4 NM_016035.5(COQ4):c.541G>A (p.Val181Met) SNV Uncertain significance 576635 rs1430241934 9:131095137-131095137 9:128332858-128332858
42 COQ4 NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) SNV Uncertain significance 634502 rs371984550 9:131088062-131088062 9:128325783-128325783
43 COQ4 NM_016035.5(COQ4):c.461A>G (p.Tyr154Cys) SNV Uncertain significance 542773 rs147142262 9:131094490-131094490 9:128332211-128332211
44 COQ4 NM_016035.5(COQ4):c.103G>A (p.Gly35Ser) SNV Uncertain significance 580739 rs141078819 9:131085327-131085327 9:128323048-128323048
45 COQ4 NM_016035.5(COQ4):c.458C>T (p.Ala153Val) SNV Uncertain significance 915327 9:131094487-131094487 9:128332208-128332208
46 CIZ1 NC_000009.11:g.(?_130911805)_(131302617_?)dup Duplication Uncertain significance 584093 9:130911805-131302617 9:128149526-128540338
47 COQ4 NM_016035.5(COQ4):c.356C>T (p.Pro119Leu) SNV Uncertain significance 383650 rs773943371 9:131088114-131088114 9:128325835-128325835
48 COQ4 NM_016035.5(COQ4):c.202G>C (p.Asp68His) SNV Uncertain significance 267347 rs758522459 9:131085426-131085426 9:128323147-128323147
49 COQ4 NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) SNV Uncertain significance 639891 rs779568890 9:131087503-131087503 9:128325224-128325224
50 COQ4 NM_016035.5(COQ4):c.18C>T (p.Arg6=) SNV Likely benign 732695 rs942212120 9:131085155-131085155 9:128322876-128322876

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 7:

73
# Symbol AA change Variation ID SNP ID
1 COQ4 p.Leu52Ser VAR_073356 rs786204770
2 COQ4 p.Pro64Ser VAR_073357 rs766317663
3 COQ4 p.Arg145Gly VAR_073358 rs774395996
4 COQ4 p.Arg240Cys VAR_073360 rs143441644

Expression for Coenzyme Q10 Deficiency, Primary, 7

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 7.

Pathways for Coenzyme Q10 Deficiency, Primary, 7

Pathways related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 COQ7 COQ6 COQ2
2 10.95 CS COQ2
3
Show member pathways
10.18 PDSS2 PDSS1 COQ9 COQ7 COQ6 COQ2

GO Terms for Coenzyme Q10 Deficiency, Primary, 7

Cellular components related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 PDSS2 PDSS1 CS COQ9 COQ8B COQ8A
2 mitochondrial inner membrane GO:0005743 9.55 COQ9 COQ7 COQ6 COQ4 COQ2
3 mitochondrial matrix GO:0005759 9.5 PDSS2 PDSS1 CS
4 transferase complex GO:1990234 9.26 PDSS2 PDSS1
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.02 COQ8B COQ8A COQ7 COQ6 COQ4

Biological processes related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 9.28 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
2 isoprenoid biosynthetic process GO:0008299 9.13 PDSS2 PDSS1 COQ2

Molecular functions related to Coenzyme Q10 Deficiency, Primary, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 PDSS2 PDSS1 CS COQ8B COQ8A COQ2
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.32 COQ7 COQ6
3 all-trans-decaprenyl-diphosphate synthase activity GO:0097269 9.26 PDSS2 PDSS1
4 trans-octaprenyltranstransferase activity GO:0050347 9.16 PDSS2 PDSS1
5 trans-hexaprenyltranstransferase activity GO:0000010 8.96 PDSS2 PDSS1
6 prenyltransferase activity GO:0004659 8.8 PDSS2 PDSS1 COQ2

Sources for Coenzyme Q10 Deficiency, Primary, 7

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