Coenzyme Q10 Deficiency, Primary, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNZ010 MIFTS: 22	Coenzyme Q10 Deficiency, Primary, 7 Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases
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Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 7

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

Name: Coenzyme Q10 Deficiency, Primary, 7 ⁵⁷ ⁷⁵ ²⁹ ⁶

Coq10d7 ⁵⁷ ⁷⁵

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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 616276

Orphanet ⁵⁹ ORPHA457185

MedGen ⁴² C4225392 CN228795

MeSH ⁴⁴ D028361

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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 skeletal muscle, and related phenotypes are seizures and neonatal hypotonia

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.

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Related Diseases for Coenzyme Q10 Deficiency, Primary, 7

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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 12)

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

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Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 7

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

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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

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Anatomical Context for Coenzyme Q10 Deficiency, Primary, 7

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

⁴¹

Skeletal Muscle

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Publications for Coenzyme Q10 Deficiency, Primary, 7

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Genes for Coenzyme Q10 Deficiency, Primary, 7

Genes related to Coenzyme Q10 Deficiency, Primary, 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COQ4	Coenzyme Q4	Protein Coding	1705.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26185144 28125198 25658047
2	TRUB2	TruB Pseudouridine Synthase Family Member 2	Protein Coding	9.2	GeneCards inferred via : Variants (show sections)

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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 72)

#	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	rs143441644	GRCh37	Chromosome 9, 131095844: 131095844
6	COQ4	NM_016035.4(COQ4): c.718C> T (p.Arg240Cys)	single nucleotide variant	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.23_33delTCCTCCGTCGG (p.Val8Alafs)	deletion	Pathogenic	rs886041549	GRCh37	Chromosome 9, 131085160: 131085170
18	COQ4	NM_016035.4(COQ4): c.23_33delTCCTCCGTCGG (p.Val8Alafs)	deletion	Pathogenic	rs886041549	GRCh38	Chromosome 9, 128322881: 128322891
19	COQ4	NM_016035.4(COQ4): c.149C> G (p.Ala50Gly)	single nucleotide variant	Benign/Likely benign	rs3003601	GRCh37	Chromosome 9, 131085373: 131085373
20	COQ4	NM_016035.4(COQ4): c.149C> G (p.Ala50Gly)	single nucleotide variant	Benign/Likely benign	rs3003601	GRCh38	Chromosome 9, 128323094: 128323094
21	COQ4	NM_016035.4(COQ4): c.356C> T (p.Pro119Leu)	single nucleotide variant	Likely pathogenic	rs773943371	GRCh37	Chromosome 9, 131088114: 131088114
22	COQ4	NM_016035.4(COQ4): c.356C> T (p.Pro119Leu)	single nucleotide variant	Likely pathogenic	rs773943371	GRCh38	Chromosome 9, 128325835: 128325835
23	COQ4	NM_016035.4(COQ4): c.424G> A (p.Ala142Thr)	single nucleotide variant	Benign	rs34043652	GRCh37	Chromosome 9, 131094453: 131094453
24	COQ4	NM_016035.4(COQ4): c.424G> A (p.Ala142Thr)	single nucleotide variant	Benign	rs34043652	GRCh38	Chromosome 9, 128332174: 128332174
25	COQ4	NM_016035.4(COQ4): c.357G> T (p.Pro119=)	single nucleotide variant	Likely benign	rs138917651	GRCh37	Chromosome 9, 131088115: 131088115
26	COQ4	NM_016035.4(COQ4): c.357G> T (p.Pro119=)	single nucleotide variant	Likely benign	rs138917651	GRCh38	Chromosome 9, 128325836: 128325836
27	COQ4	NM_016035.4(COQ4): c.483G> C (p.Glu161Asp)	single nucleotide variant	Benign	rs141228574	GRCh37	Chromosome 9, 131094512: 131094512
28	COQ4	NM_016035.4(COQ4): c.483G> C (p.Glu161Asp)	single nucleotide variant	Benign	rs141228574	GRCh38	Chromosome 9, 128332233: 128332233
29	COQ4	NM_016035.4(COQ4): c.614G> A (p.Arg205Gln)	single nucleotide variant	Benign/Likely benign	rs35213511	GRCh38	Chromosome 9, 128332931: 128332931
30	COQ4	NM_016035.4(COQ4): c.614G> A (p.Arg205Gln)	single nucleotide variant	Benign/Likely benign	rs35213511	GRCh37	Chromosome 9, 131095210: 131095210
31	COQ4	NM_016035.4(COQ4): c.331G> T (p.Asp111Tyr)	single nucleotide variant	no interpretation for the single variant	rs530213004	GRCh37	Chromosome 9, 131088089: 131088089
32	COQ4	NM_016035.4(COQ4): c.331G> T (p.Asp111Tyr)	single nucleotide variant	no interpretation for the single variant	rs530213004	GRCh38	Chromosome 9, 128325810: 128325810
33	COQ4	NM_016035.4(COQ4): c.47C> G (p.Pro16Arg)	single nucleotide variant	Uncertain significance	rs775518369	GRCh38	Chromosome 9, 128322905: 128322905
34	COQ4	NM_016035.4(COQ4): c.47C> G (p.Pro16Arg)	single nucleotide variant	Uncertain significance	rs775518369	GRCh37	Chromosome 9, 131085184: 131085184
35	COQ4	NM_016035.4(COQ4): c.48G> C (p.Pro16=)	single nucleotide variant	Benign/Likely benign	rs375750495	GRCh37	Chromosome 9, 131085185: 131085185
36	COQ4	NM_016035.4(COQ4): c.48G> C (p.Pro16=)	single nucleotide variant	Benign/Likely benign	rs375750495	GRCh38	Chromosome 9, 128322906: 128322906
37	COQ4	NM_016035.4(COQ4): c.70+2C> G	single nucleotide variant	Likely pathogenic	rs767839639	GRCh37	Chromosome 9, 131085209: 131085209
38	COQ4	NM_016035.4(COQ4): c.70+2C> G	single nucleotide variant	Likely pathogenic	rs767839639	GRCh38	Chromosome 9, 128322930: 128322930
39	COQ4	NM_016035.4(COQ4): c.461A> T (p.Tyr154Phe)	single nucleotide variant	Uncertain significance	rs147142262	GRCh37	Chromosome 9, 131094490: 131094490
40	COQ4	NM_016035.4(COQ4): c.461A> T (p.Tyr154Phe)	single nucleotide variant	Uncertain significance	rs147142262	GRCh38	Chromosome 9, 128332211: 128332211
41	COQ4	NM_016035.4(COQ4): c.681C> T (p.Arg227=)	single nucleotide variant	Likely benign	rs147390140	GRCh37	Chromosome 9, 131095807: 131095807
42	COQ4	NM_016035.4(COQ4): c.681C> T (p.Arg227=)	single nucleotide variant	Likely benign	rs147390140	GRCh38	Chromosome 9, 128333528: 128333528
43	COQ4	NM_016035.4(COQ4): c.744G> A (p.Leu248=)	single nucleotide variant	Likely benign	rs769648692	GRCh37	Chromosome 9, 131095870: 131095870
44	COQ4	NM_016035.4(COQ4): c.744G> A (p.Leu248=)	single nucleotide variant	Likely benign	rs769648692	GRCh38	Chromosome 9, 128333591: 128333591
45	COQ4	NM_016035.4(COQ4): c.32G> C (p.Arg11Pro)	single nucleotide variant	Uncertain significance	rs770687111	GRCh37	Chromosome 9, 131085169: 131085169
46	COQ4	NM_016035.4(COQ4): c.32G> C (p.Arg11Pro)	single nucleotide variant	Uncertain significance	rs770687111	GRCh38	Chromosome 9, 128322890: 128322890
47	COQ4	NM_016035.4(COQ4): c.689C> A (p.Pro230Gln)	single nucleotide variant	Uncertain significance	rs1016089045	GRCh38	Chromosome 9, 128333536: 128333536
48	COQ4	NM_016035.4(COQ4): c.689C> A (p.Pro230Gln)	single nucleotide variant	Uncertain significance	rs1016089045	GRCh37	Chromosome 9, 131095815: 131095815
49	COQ4	NM_016035.4(COQ4): c.370G> A (p.Gly124Ser)	single nucleotide variant	Uncertain significance	rs776825296	GRCh37	Chromosome 9, 131088128: 131088128
50	COQ4	NM_016035.4(COQ4): c.370G> A (p.Gly124Ser)	single nucleotide variant	Uncertain significance	rs776825296	GRCh38	Chromosome 9, 128325849: 128325849

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Expression for Coenzyme Q10 Deficiency, Primary, 7

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

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Pathways for Coenzyme Q10 Deficiency, Primary, 7

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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

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