COQ10D7
MCID: CNZ010
MIFTS: 24

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 57 12 75 29 6
Coq10d7 57 12 75
Primary Coenzyme Q10 Deficiency 7 12 15
Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome 59
Coenzyme Q10 Deficiency, Primary, Type 7 40
Coq4-Related Neonatal Encephalomyopathy 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
coenzyme q10 deficiency, primary, 7:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 7, is also known as coq10d7. An important gene associated with Coenzyme Q10 Deficiency, Primary, 7 is COQ4 (Coenzyme Q4). Affiliated tissues include heart and skeletal muscle, and related phenotypes are seizures and dysphagia

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 : 75 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

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 7

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 dysphagia 32 HP:0002015
3 respiratory insufficiency 32 HP:0002093
4 scoliosis 32 occasional (7.5%) HP:0002650
5 neonatal hypotonia 32 HP:0001319
6 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
7 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
8 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
9 hypoplastic left heart 32 very rare (1%) HP:0004383
10 increased serum lactate 32 HP:0002151
11 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
12 epileptic encephalopathy 32 occasional (7.5%) HP:0200134
13 bradycardia 32 occasional (7.5%) HP:0001662

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:

41
Heart, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency, Primary, 7

Variations for Coenzyme Q10 Deficiency, Primary, 7

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

75
# 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

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

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ4 NM_016035.4(COQ4): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs774395996 GRCh37 Chromosome 9, 131094462: 131094462
2 COQ4 NM_016035.4(COQ4): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs774395996 GRCh38 Chromosome 9, 128332183: 128332183
3 COQ4 NM_016035.4(COQ4): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs775607037 GRCh37 Chromosome 9, 131094450: 131094450
4 COQ4 NM_016035.4(COQ4): c.421C> T (p.Arg141Ter) single nucleotide variant Pathogenic rs775607037 GRCh38 Chromosome 9, 128332171: 128332171
5 COQ4 NM_016035.4(COQ4): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs143441644 GRCh37 Chromosome 9, 131095844: 131095844
6 COQ4 NM_016035.4(COQ4): c.718C> T (p.Arg240Cys) single nucleotide variant Pathogenic/Likely pathogenic rs143441644 GRCh38 Chromosome 9, 128333565: 128333565
7 COQ4 NM_016035.4(COQ4): c.155T> C (p.Leu52Ser) single nucleotide variant Pathogenic rs786204770 GRCh37 Chromosome 9, 131085379: 131085379
8 COQ4 NM_016035.4(COQ4): c.155T> C (p.Leu52Ser) single nucleotide variant Pathogenic rs786204770 GRCh38 Chromosome 9, 128323100: 128323100
9 COQ4 NM_016035.4(COQ4): c.521_523delCCA (p.Thr174del) deletion Pathogenic rs786204771 GRCh37 Chromosome 9, 131094550: 131094552
10 COQ4 NM_016035.4(COQ4): c.521_523delCCA (p.Thr174del) deletion Pathogenic rs786204771 GRCh38 Chromosome 9, 128332271: 128332273
11 COQ4 NM_016035.4(COQ4): c.190C> T (p.Pro64Ser) single nucleotide variant Pathogenic rs766317663 GRCh37 Chromosome 9, 131085414: 131085414
12 COQ4 NM_016035.4(COQ4): c.190C> T (p.Pro64Ser) single nucleotide variant Pathogenic rs766317663 GRCh38 Chromosome 9, 128323135: 128323135
13 COQ4 NM_016035.4(COQ4): c.197_198delGCinsAA (p.Arg66Gln) indel Pathogenic rs886040973 GRCh37 Chromosome 9, 131085421: 131085422
14 COQ4 NM_016035.4(COQ4): c.197_198delGCinsAA (p.Arg66Gln) indel Pathogenic rs886040973 GRCh38 Chromosome 9, 128323142: 128323143
15 COQ4 NM_016035.4(COQ4): c.202G> C (p.Asp68His) single nucleotide variant Conflicting interpretations of pathogenicity rs758522459 GRCh37 Chromosome 9, 131085426: 131085426
16 COQ4 NM_016035.4(COQ4): c.202G> C (p.Asp68His) single nucleotide variant Conflicting interpretations of pathogenicity rs758522459 GRCh38 Chromosome 9, 128323147: 128323147
17 COQ4 NM_016035.4(COQ4): c.149C> G (p.Ala50Gly) single nucleotide variant Benign/Likely benign rs3003601 GRCh37 Chromosome 9, 131085373: 131085373
18 COQ4 NM_016035.4(COQ4): c.149C> G (p.Ala50Gly) single nucleotide variant Benign/Likely benign rs3003601 GRCh38 Chromosome 9, 128323094: 128323094
19 COQ4 NM_016035.4(COQ4): c.356C> T (p.Pro119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs773943371 GRCh37 Chromosome 9, 131088114: 131088114
20 COQ4 NM_016035.4(COQ4): c.356C> T (p.Pro119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs773943371 GRCh38 Chromosome 9, 128325835: 128325835
21 COQ4 NM_016035.4(COQ4): c.424G> A (p.Ala142Thr) single nucleotide variant Benign rs34043652 GRCh37 Chromosome 9, 131094453: 131094453
22 COQ4 NM_016035.4(COQ4): c.424G> A (p.Ala142Thr) single nucleotide variant Benign rs34043652 GRCh38 Chromosome 9, 128332174: 128332174
23 COQ4 NM_016035.4(COQ4): c.357G> T (p.Pro119=) single nucleotide variant Likely benign rs138917651 GRCh37 Chromosome 9, 131088115: 131088115
24 COQ4 NM_016035.4(COQ4): c.357G> T (p.Pro119=) single nucleotide variant Likely benign rs138917651 GRCh38 Chromosome 9, 128325836: 128325836
25 COQ4 NM_016035.4(COQ4): c.483G> C (p.Glu161Asp) single nucleotide variant Benign rs141228574 GRCh37 Chromosome 9, 131094512: 131094512
26 COQ4 NM_016035.4(COQ4): c.483G> C (p.Glu161Asp) single nucleotide variant Benign rs141228574 GRCh38 Chromosome 9, 128332233: 128332233
27 COQ4 NM_016035.4(COQ4): c.614G> A (p.Arg205Gln) single nucleotide variant Benign/Likely benign rs35213511 GRCh38 Chromosome 9, 128332931: 128332931
28 COQ4 NM_016035.4(COQ4): c.614G> A (p.Arg205Gln) single nucleotide variant Benign/Likely benign rs35213511 GRCh37 Chromosome 9, 131095210: 131095210
29 COQ4 NM_016035.4(COQ4): c.47C> G (p.Pro16Arg) single nucleotide variant Uncertain significance rs775518369 GRCh37 Chromosome 9, 131085184: 131085184
30 COQ4 NM_016035.4(COQ4): c.47C> G (p.Pro16Arg) single nucleotide variant Uncertain significance rs775518369 GRCh38 Chromosome 9, 128322905: 128322905
31 COQ4 NM_016035.4(COQ4): c.48G> C (p.Pro16=) single nucleotide variant Benign/Likely benign rs375750495 GRCh37 Chromosome 9, 131085185: 131085185
32 COQ4 NM_016035.4(COQ4): c.48G> C (p.Pro16=) single nucleotide variant Benign/Likely benign rs375750495 GRCh38 Chromosome 9, 128322906: 128322906
33 COQ4 NM_016035.4(COQ4): c.70+2C> G single nucleotide variant Likely pathogenic rs767839639 GRCh37 Chromosome 9, 131085209: 131085209
34 COQ4 NM_016035.4(COQ4): c.70+2C> G single nucleotide variant Likely pathogenic rs767839639 GRCh38 Chromosome 9, 128322930: 128322930
35 COQ4 NM_016035.4(COQ4): c.461A> T (p.Tyr154Phe) single nucleotide variant Uncertain significance rs147142262 GRCh38 Chromosome 9, 128332211: 128332211
36 COQ4 NM_016035.4(COQ4): c.461A> T (p.Tyr154Phe) single nucleotide variant Uncertain significance rs147142262 GRCh37 Chromosome 9, 131094490: 131094490
37 COQ4 NM_016035.4(COQ4): c.681C> T (p.Arg227=) single nucleotide variant Likely benign rs147390140 GRCh38 Chromosome 9, 128333528: 128333528
38 COQ4 NM_016035.4(COQ4): c.681C> T (p.Arg227=) single nucleotide variant Likely benign rs147390140 GRCh37 Chromosome 9, 131095807: 131095807
39 COQ4 NM_016035.4(COQ4): c.744G> A (p.Leu248=) single nucleotide variant Likely benign rs769648692 GRCh37 Chromosome 9, 131095870: 131095870
40 COQ4 NM_016035.4(COQ4): c.744G> A (p.Leu248=) single nucleotide variant Likely benign rs769648692 GRCh38 Chromosome 9, 128333591: 128333591
41 COQ4 NM_016035.4(COQ4): c.32G> C (p.Arg11Pro) single nucleotide variant Uncertain significance rs770687111 GRCh37 Chromosome 9, 131085169: 131085169
42 COQ4 NM_016035.4(COQ4): c.32G> C (p.Arg11Pro) single nucleotide variant Uncertain significance rs770687111 GRCh38 Chromosome 9, 128322890: 128322890
43 COQ4 NM_016035.4(COQ4): c.689C> A (p.Pro230Gln) single nucleotide variant Uncertain significance rs1016089045 GRCh38 Chromosome 9, 128333536: 128333536
44 COQ4 NM_016035.4(COQ4): c.689C> A (p.Pro230Gln) single nucleotide variant Uncertain significance rs1016089045 GRCh37 Chromosome 9, 131095815: 131095815
45 COQ4 NM_016035.4(COQ4): c.370G> A (p.Gly124Ser) single nucleotide variant Uncertain significance rs776825296 GRCh37 Chromosome 9, 131088128: 131088128
46 COQ4 NM_016035.4(COQ4): c.370G> A (p.Gly124Ser) single nucleotide variant Uncertain significance rs776825296 GRCh38 Chromosome 9, 128325849: 128325849
47 COQ4 NM_016035.4(COQ4): c.468T> C (p.Ile156=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 131094497: 131094497
48 COQ4 NM_016035.4(COQ4): c.468T> C (p.Ile156=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 128332218: 128332218
49 COQ4 NM_016035.4(COQ4): c.669T> C (p.Val223=) single nucleotide variant Likely benign GRCh37 Chromosome 9, 131095795: 131095795
50 COQ4 NM_016035.4(COQ4): c.669T> C (p.Val223=) single nucleotide variant Likely benign GRCh38 Chromosome 9, 128333516: 128333516

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

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 8.62 COQ4 TRUB2

Sources for Coenzyme Q10 Deficiency, Primary, 7

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