COQ10D7
MCID: CNZ010
MIFTS: 39

Coenzyme Q10 Deficiency, Primary, 7 (COQ10D7)

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

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 7

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

Name: Coenzyme Q10 Deficiency, Primary, 7 56 12 73 29 6
Coq10d7 56 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:

56
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 : 56 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)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 7, also known as coq10d7, is related to coenzyme q10 deficiency, primary, 1 and leigh syndrome with nephrotic syndrome. An important gene associated with Coenzyme Q10 Deficiency, Primary, 7 is COQ4 (Coenzyme Q4), and among its related pathways/superpathways are Mitochondrial protein import and Ubiquinol biosynthesis. Affiliated tissues include heart and skeletal muscle, and related phenotypes are scoliosis and hypertrophic cardiomyopathy

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 23)
# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 1 9.8 COQ8A COQ2
2 leigh syndrome with nephrotic syndrome 9.7 PDSS2 COQ2
3 nephrotic syndrome 9.7 PDSS2 COQ8B COQ6
4 frasier syndrome 9.7 COQ8B COQ2
5 cerebellar disease 9.6 COQ8A COQ2
6 coenzyme q10 deficiency, primary, 2 9.5 PDSS1 COQ8B COQ8A COQ6 COQ4
7 coenzyme q10 deficiency, primary, 5 9.4 COQ9 COQ8B COQ8A COQ6 COQ4
8 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.3 PDSS1 COQ9 COQ8A COQ2
9 focal segmental glomerulosclerosis 9.3 VCL PDSS2 COQ8B COQ6
10 cardiofaciocutaneous syndrome 1 9.2 PDSS2 PDSS1 COQ8A COQ2
11 kearns-sayre syndrome 9.2 CS COQ8A COQ2
12 coenzyme q10 deficiency, primary, 6 9.2 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
13 hereditary ataxia 8.9 PDSS2 PDSS1 COQ9 COQ8A COQ2
14 coenzyme q10 deficiency, primary, 3 8.8 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
15 mitochondrial encephalomyopathy 8.7 PDSS2 PDSS1 COQ9 COQ8A COQ4 COQ2
16 coenzyme q10 deficiency, primary, 4 8.4 PDSS1 COQ9 COQ8B COQ8A COQ7 COQ6
17 mitochondrial myopathy 8.3 PDSS2 PDSS1 CS COQ9 COQ8A COQ2
18 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.3 PDSS2 PDSS1 CS COQ9 COQ6 COQ2
19 multiple acyl-coa dehydrogenase deficiency 8.3 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
20 mitochondrial complex i deficiency, nuclear type 1 8.2 PDSS1 CS COQ9 COQ8A COQ7 COQ4
21 coenzyme q10 deficiency disease 8.0 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ7
22 leigh syndrome 7.9 PDSS2 PDSS1 CS COQ9 COQ8A COQ6
23 mitochondrial metabolism disease 7.4 PDSS2 PDSS1 CS COQ9 COQ8B COQ8A

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 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
3 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
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 neonatal hypotonia 31 HP:0001319
11 dysphagia 31 HP:0002015
12 respiratory insufficiency 31 HP:0002093
13 increased serum lactate 31 HP:0002151

Symptoms via clinical synopsis from OMIM:

56
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

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

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

Respiratory:
respiratory insufficiency, neonatal

Skeletal Spine:
scoliosis (1 patient)

Neurologic Peripheral Nervous System:
sensorimotor polyneuropathy (1 patient)

Clinical features from OMIM:

616276

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

45
# 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. 56 6
26185144 2015
2
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 6 56
25658047 2015
3
Primary Coenzyme Q10 Deficiency 6
28125198 2017
4
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 56
22368301 2012
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 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ4 NM_016035.5(COQ4):c.371G>T (p.Gly124Val)SNV Pathogenic 638639 9:131088129-131088129 9:128325850-128325850
2 COQ4 NM_016035.5(COQ4):c.67dup (p.Ala23fs)duplication Pathogenic 476186 rs1554796655 9:131085202-131085203 9:128322923-128322924
3 COQ4 NM_016035.5(COQ4):c.433C>G (p.Arg145Gly)SNV Pathogenic 189199 rs774395996 9:131094462-131094462 9:128332183-128332183
4 COQ4 NM_016035.5(COQ4):c.421C>T (p.Arg141Ter)SNV Pathogenic 189200 rs775607037 9:131094450-131094450 9:128332171-128332171
5 COQ4 NM_016035.5(COQ4):c.155T>C (p.Leu52Ser)SNV Pathogenic 189202 rs786204770 9:131085379-131085379 9:128323100-128323100
6 COQ4 NM_016035.5(COQ4):c.518_520CCA[1] (p.Thr174del)short repeat Pathogenic 189203 rs786204771 9:131094547-131094549 9:128332268-128332270
7 COQ4 NM_016035.5(COQ4):c.190C>T (p.Pro64Ser)SNV Pathogenic 189204 rs766317663 9:131085414-131085414 9:128323135-128323135
8 COQ4 NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln)indel Pathogenic 267346 rs886040973 9:131085421-131085422 9:128323142-128323143
9 COQ4 NM_016035.5(COQ4):c.402+1G>CSNV Pathogenic 379740 rs747779231 9:131088161-131088161 9:128325882-128325882
10 COQ4 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)SNV Pathogenic/Likely pathogenic 189201 rs143441644 9:131095844-131095844 9:128333565-128333565
11 COQ4 NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)SNV Pathogenic/Likely pathogenic 488488 rs1045118320 9:131094498-131094498 9:128332219-128332219
12 COQ4 NM_016035.5(COQ4):c.70+2C>GSNV Likely pathogenic 476189 rs767839639 9:131085209-131085209 9:128322930-128322930
13 COQ4 NM_016035.5(COQ4):c.300-2A>GSNV Likely pathogenic 577566 rs141303335 9:131088056-131088056 9:128325777-128325777
14 COQ4 NM_016035.5(COQ4):c.402+1G>ASNV Likely pathogenic 660116 9:131088161-131088161 9:128325882-128325882
15 COQ4 NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)SNV Conflicting interpretations of pathogenicity 488487 rs1163170578 9:131094466-131094466 9:128332187-128332187
16 COQ4 NM_016035.5(COQ4):c.202G>C (p.Asp68His)SNV Conflicting interpretations of pathogenicity 267347 rs758522459 9:131085426-131085426 9:128323147-128323147
17 COQ4 NM_016035.5(COQ4):c.356C>T (p.Pro119Leu)SNV Conflicting interpretations of pathogenicity 383650 rs773943371 9:131088114-131088114 9:128325835-128325835
18 COQ4 NM_016035.5(COQ4):c.458C>T (p.Ala153Val)SNV Uncertain significance 915327 9:131094487-131094487 9:128332208-128332208
19 COQ4 NM_016035.5(COQ4):c.375C>T (p.Arg125=)SNV Uncertain significance 476180 rs375096994 9:131088133-131088133 9:128325854-128325854
20 COQ4 NM_016035.5(COQ4):c.47C>G (p.Pro16Arg)SNV Uncertain significance 476183 rs775518369 9:131085184-131085184 9:128322905-128322905
21 COQ4 NM_016035.5(COQ4):c.679C>T (p.Arg227Cys)SNV Uncertain significance 568322 rs767665620 9:131095805-131095805 9:128333526-128333526
22 COQ4 NM_016035.5(COQ4):c.701A>G (p.Asn234Ser)SNV Uncertain significance 573763 rs139974385 9:131095827-131095827 9:128333548-128333548
23 COQ4 NM_016035.5(COQ4):c.340A>G (p.Lys114Glu)SNV Uncertain significance 566335 rs1564390909 9:131088098-131088098 9:128325819-128325819
24 COQ4 NM_016035.5(COQ4):c.445G>C (p.Asp149His)SNV Uncertain significance 567964 rs138560167 9:131094474-131094474 9:128332195-128332195
25 COQ4 NM_016035.5(COQ4):c.144G>T (p.Gln48His)SNV Uncertain significance 572296 rs765791496 9:131085368-131085368 9:128323089-128323089
26 COQ4 NM_016035.5(COQ4):c.541G>A (p.Val181Met)SNV Uncertain significance 576635 rs1430241934 9:131095137-131095137 9:128332858-128332858
27 COQ4 NM_016035.5(COQ4):c.304C>T (p.Arg102Cys)SNV Uncertain significance 634502 rs371984550 9:131088062-131088062 9:128325783-128325783
28 COQ4 NM_016035.5(COQ4):c.17G>A (p.Arg6His)SNV Uncertain significance 642163 9:131085154-131085154 9:128322875-128322875
29 COQ4 NM_016035.5(COQ4):c.103G>C (p.Gly35Arg)SNV Uncertain significance 641543 9:131085327-131085327 9:128323048-128323048
30 COQ4 NM_016035.5(COQ4):c.115T>G (p.Ser39Ala)SNV Uncertain significance 653582 9:131085339-131085339 9:128323060-128323060
31 COQ4 NM_016035.5(COQ4):c.134C>T (p.Ser45Phe)SNV Uncertain significance 651003 9:131085358-131085358 9:128323079-128323079
32 COQ4 NM_016035.5(COQ4):c.284G>A (p.Gly95Asp)SNV Uncertain significance 639891 9:131087503-131087503 9:128325224-128325224
33 COQ4 NM_016035.5(COQ4):c.286G>A (p.Ala96Thr)SNV Uncertain significance 647580 9:131087505-131087505 9:128325226-128325226
34 COQ4 NM_016035.5(COQ4):c.376G>A (p.Glu126Lys)SNV Uncertain significance 647378 9:131088134-131088134 9:128325855-128325855
35 COQ4 NM_016035.5(COQ4):c.394G>C (p.Asp132His)SNV Uncertain significance 649800 9:131088152-131088152 9:128325873-128325873
36 COQ4 NM_016035.5(COQ4):c.648G>A (p.Ser216=)SNV Uncertain significance 656782 9:131095774-131095774 9:128333495-128333495
37 COQ4 NM_016035.5(COQ4):c.461A>T (p.Tyr154Phe)SNV Uncertain significance 476181 rs147142262 9:131094490-131094490 9:128332211-128332211
38 COQ4 NM_016035.5(COQ4):c.32G>C (p.Arg11Pro)SNV Uncertain significance 476178 rs770687111 9:131085169-131085169 9:128322890-128322890
39 COQ4 NM_016035.5(COQ4):c.689C>A (p.Pro230Gln)SNV Uncertain significance 476188 rs1016089045 9:131095815-131095815 9:128333536-128333536
40 COQ4 NM_016035.5(COQ4):c.370G>A (p.Gly124Ser)SNV Uncertain significance 476179 rs776825296 9:131088128-131088128 9:128325849-128325849
41 COQ4 NM_016035.5(COQ4):c.752A>T (p.Glu251Val)SNV Uncertain significance 542772 rs764026213 9:131095878-131095878 9:128333599-128333599
42 COQ4 NM_016035.5(COQ4):c.580A>G (p.Met194Val)SNV Uncertain significance 542774 rs150739190 9:131095176-131095176 9:128332897-128332897
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.385C>T (p.Arg129Cys)SNV Uncertain significance 566976 rs139770523 9:131088143-131088143 9:128325864-128325864
45 COQ4 NM_016035.5(COQ4):c.402C>T (p.Asn134=)SNV Uncertain significance 568408 rs778542323 9:131088160-131088160 9:128325881-128325881
46 covers 21 genes, none of which curated to show dosage sensitivity NC_000009.11:g.(?_130911805)_(131302617_?)dupduplication Uncertain significance 584093 9:130911805-131302617 9:128149526-128540338
47 COQ4 NM_016035.5(COQ4):c.44T>C (p.Leu15Pro)SNV Uncertain significance 576758 rs879324921 9:131085181-131085181 9:128322902-128322902
48 COQ4 NM_016035.5(COQ4):c.103G>A (p.Gly35Ser)SNV Uncertain significance 580739 rs141078819 9:131085327-131085327 9:128323048-128323048
49 COQ4 NM_016035.5(COQ4):c.468T>C (p.Ile156=)SNV Likely benign 476182 rs1199755377 9:131094497-131094497 9:128332218-128332218
50 COQ4 NM_016035.5(COQ4):c.681C>T (p.Arg227=)SNV Likely benign 476187 rs147390140 9:131095807-131095807 9:128333528-128333528

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 10.75 CS COQ2
2
Show member pathways
10.46 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 9.8 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 9.26 COQ7 COQ6
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, 7

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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