COQ10D1
MCID: CNZ006
MIFTS: 28

Coenzyme Q10 Deficiency, Primary, 1 (COQ10D1)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 1

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 1:

Name: Coenzyme Q10 Deficiency, Primary, 1 58 76 13 74
Ubiquinone Deficiency 1 58 12 76
Coenzyme Q Deficiency 1 58 12 76
Coq Deficiency 1 58 12 76
Coq10d1 58 12 76
Coenzyme Q10 Deficiency, Primary 1 30 6
Coq10 Deficiency, Primary, 1 58 12
Coenzyme Q10 Deficiency, Primary, Type 1 41
Primary Coenzyme Q10 Deficiency 1 12
Primary Coq10 Deficiency 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset usually in infancy or early childhood
some patients may show a favorable response to oral coenzyme q10 supplementation


HPO:

33
coenzyme q10 deficiency, primary, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course onset


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 1

OMIM : 58 Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009). The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. (607426)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 1, also known as ubiquinone deficiency 1, is related to coenzyme q10 deficiency, primary, 4 and coenzyme q10 deficiency, primary, 7, and has symptoms including seizures, cerebellar ataxia and unspecified visual loss. An important gene associated with Coenzyme Q10 Deficiency, Primary, 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase). Affiliated tissues include liver and skeletal muscle, and related phenotypes are nystagmus and intellectual disability

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23.

UniProtKB/Swiss-Prot : 76 Coenzyme Q10 deficiency, primary, 1: 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.

Related Diseases for Coenzyme Q10 Deficiency, Primary, 1

Diseases related to Coenzyme Q10 Deficiency, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency, primary, 4 11.1
2 coenzyme q10 deficiency, primary, 7 11.1

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 1

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 1:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 dysarthria 33 HP:0001260
6 sensorineural hearing impairment 33 HP:0000407
7 fatigue 33 HP:0012378
8 hypertrophic cardiomyopathy 33 HP:0001639
9 anemia 33 HP:0001903
10 pancytopenia 33 HP:0001876
11 specific learning disability 33 HP:0001328
12 nephrotic syndrome 33 HP:0000100
13 lactic acidosis 33 HP:0003128
14 ragged-red muscle fibers 33 HP:0003200
15 motor delay 33 HP:0001270
16 hypergonadotropic hypogonadism 33 HP:0000815
17 visual loss 33 HP:0000572
18 hepatic failure 33 HP:0001399
19 rod-cone dystrophy 33 HP:0000510
20 cerebellar atrophy 33 HP:0001272
21 encephalopathy 33 HP:0001298
22 progressive muscle weakness 33 HP:0003323
23 scanning speech 33 HP:0002168
24 postural instability 33 HP:0002172
25 glomerulosclerosis 33 HP:0000096
26 recurrent myoglobinuria 33 HP:0003652
27 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
retinitis pigmentosa
vision loss

Cardiovascular Heart:
hypertrophic cardiomyopathy

Genitourinary Kidneys:
nephrotic syndrome
glomerulosclerosis
podocyte effacement
abnormal mitochondria in podocytes

Laboratory Abnormalities:
increased serum creatine kinase
decreased levels of coenzyme q10 in skeletal muscle (5-35%)
decreased activity of coenzyme q10-dependent respiratory chain complexes

Abdomen Liver:
liver failure

Neurologic Central Nervous System:
seizures
cerebellar atrophy
encephalopathy
cerebellar ataxia
mental retardation

Hematology:
anemia
pancytopenia

Muscle Soft Tissue:
ragged red fibers
muscle weakness, progressive
exertional fatigue
lipid accumulation
decreased coenzyme q10 content

Head And Neck Ears:
deafness, sensorineural

Metabolic Features:
lactic acidemia

Clinical features from OMIM:

607426

UMLS symptoms related to Coenzyme Q10 Deficiency, Primary, 1:


seizures, cerebellar ataxia, unspecified visual loss

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 1

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 1

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 1

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 1:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary 1 30 COQ2

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 1

MalaCards organs/tissues related to Coenzyme Q10 Deficiency, Primary, 1:

42
Liver, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency, Primary, 1

Articles related to Coenzyme Q10 Deficiency, Primary, 1:

# Title Authors Year
1
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. ( 20495179 )
2010
2
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. ( 17374725 )
2007
3
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. ( 17855635 )
2007
4
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. ( 17332895 )
2007
5
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. ( 16400613 )
2006
6
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. ( 16116126 )
2005

Variations for Coenzyme Q10 Deficiency, Primary, 1

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 1:

76
# Symbol AA change Variation ID SNP ID
1 COQ2 p.Tyr247Cys VAR_025701
2 COQ2 p.Ser96Asn VAR_068161
3 COQ2 p.Arg147His VAR_068162
4 COQ2 p.Asn178Ser VAR_068163
5 COQ2 p.Met132Arg VAR_076913
6 COQ2 p.Ala252Val VAR_076914

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 1:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.8(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh37 Chromosome 4, 84191035: 84191035
2 COQ2 NM_015697.8(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh38 Chromosome 4, 83269882: 83269882
3 COQ2 NM_015697.8(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs121918231 GRCh37 Chromosome 4, 84194751: 84194751
4 COQ2 NM_015697.8(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic/Likely pathogenic rs121918231 GRCh38 Chromosome 4, 83273598: 83273598
5 COQ2 NM_015697.8(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh37 Chromosome 4, 84194658: 84194658
6 COQ2 NM_015697.8(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh38 Chromosome 4, 83273505: 83273505
7 COQ2 NM_015697.8(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh37 Chromosome 4, 84200234: 84200234
8 COQ2 NM_015697.8(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh38 Chromosome 4, 83279081: 83279081
9 COQ2 NM_015697.8(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh37 Chromosome 4, 84205872: 84205872
10 COQ2 NM_015697.8(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh38 Chromosome 4, 83284719: 83284719
11 COQ2 NM_015697.8(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh37 Chromosome 4, 84191031: 84191031
12 COQ2 NM_015697.8(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh38 Chromosome 4, 83269878: 83269878
13 COQ2 NM_015697.8(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh37 Chromosome 4, 84188850: 84188850
14 COQ2 NM_015697.8(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh38 Chromosome 4, 83267697: 83267697
15 COQ2 NM_015697.8(COQ2): c.64A> T (p.Arg22Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs112033303 GRCh37 Chromosome 4, 84206004: 84206004
16 COQ2 NM_015697.8(COQ2): c.64A> T (p.Arg22Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs112033303 GRCh38 Chromosome 4, 83284851: 83284851
17 COQ2 NM_015697.8(COQ2): c.16C> A (p.Gln6Lys) single nucleotide variant Uncertain significance rs752575160 GRCh37 Chromosome 4, 84206052: 84206052
18 COQ2 NM_015697.8(COQ2): c.16C> A (p.Gln6Lys) single nucleotide variant Uncertain significance rs752575160 GRCh38 Chromosome 4, 83284899: 83284899
19 COQ2 NM_015697.7(COQ2): c.1197delT (p.Asn401IlefsTer15) deletion Pathogenic rs750710187 GRCh38 Chromosome 4, 83264268: 83264268
20 COQ2 NM_015697.7(COQ2): c.1197delT (p.Asn401IlefsTer15) deletion Pathogenic rs750710187 GRCh37 Chromosome 4, 84185421: 84185421
21 COQ2 NM_015697.8(COQ2): c.854C> G (p.Pro285Arg) single nucleotide variant Likely pathogenic rs1161445886 GRCh38 Chromosome 4, 83269918: 83269918
22 COQ2 NM_015697.8(COQ2): c.854C> G (p.Pro285Arg) single nucleotide variant Likely pathogenic rs1161445886 GRCh37 Chromosome 4, 84191071: 84191071
23 COQ8A NM_020247.4(COQ8A): c.1939C> T (p.Gln647Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 226986732: 226986732
24 COQ8A NM_020247.4(COQ8A): c.1939C> T (p.Gln647Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 227174433: 227174433
25 COQ8A NM_020247.4(COQ8A): c.1942T> G (p.Ter648Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 226986735: 226986735
26 COQ8A NM_020247.4(COQ8A): c.1942T> G (p.Ter648Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 227174436: 227174436
27 COQ8A NM_020247.4(COQ8A): c.*72dup duplication Likely pathogenic GRCh38 Chromosome 1, 226986809: 226986809
28 COQ8A NM_020247.4(COQ8A): c.*72dup duplication Likely pathogenic GRCh37 Chromosome 1, 227174510: 227174510
29 COQ2 NM_015697.8(COQ2): c.1220_1222del (p.Lys407del) deletion Uncertain significance GRCh38 Chromosome 4, 83264243: 83264245
30 COQ2 NM_015697.8(COQ2): c.1220_1222del (p.Lys407del) deletion Uncertain significance GRCh37 Chromosome 4, 84185396: 84185398
31 APTX NM_001195248.1(APTX): c.38+2T> G single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 33001565: 33001565
32 APTX NM_001195248.1(APTX): c.38+2T> G single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 33001563: 33001563

Expression for Coenzyme Q10 Deficiency, Primary, 1

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Pathways for Coenzyme Q10 Deficiency, Primary, 1

GO Terms for Coenzyme Q10 Deficiency, Primary, 1

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