COQ10D1
MCID: CNZ006
MIFTS: 26

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 57 75 13 73
Ubiquinone Deficiency 1 57 12 75
Coenzyme Q Deficiency 1 57 12 75
Coq Deficiency 1 57 12 75
Coq10d1 57 12 75
Coenzyme Q10 Deficiency, Primary 1 29 6
Coq10 Deficiency, Primary, 1 57 12
Coenzyme Q10 Deficiency, Primary, Type 1 40
Primary Coenzyme Q10 Deficiency 1 12
Primary Coq10 Deficiency 1 75

Characteristics:

OMIM:

57
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:

32
coenzyme q10 deficiency, primary, 1:
Onset and clinical course phenotypic variability onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 1

OMIM : 57 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, ataxia and muscle weakness. 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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
mental retardation
cerebellar ataxia

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

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

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 dysarthria 32 HP:0001260
6 sensorineural hearing impairment 32 HP:0000407
7 fatigue 32 HP:0012378
8 hypertrophic cardiomyopathy 32 HP:0001639
9 elevated serum creatine phosphokinase 32 HP:0003236
10 anemia 32 HP:0001903
11 pancytopenia 32 HP:0001876
12 specific learning disability 32 HP:0001328
13 nephrotic syndrome 32 HP:0000100
14 lactic acidosis 32 HP:0003128
15 ragged-red muscle fibers 32 HP:0003200
16 motor delay 32 HP:0001270
17 hypergonadotropic hypogonadism 32 HP:0000815
18 visual loss 32 HP:0000572
19 hepatic failure 32 HP:0001399
20 rod-cone dystrophy 32 HP:0000510
21 cerebellar atrophy 32 HP:0001272
22 encephalopathy 32 HP:0001298
23 progressive muscle weakness 32 HP:0003323
24 scanning speech 32 HP:0002168
25 postural instability 32 HP:0002172
26 glomerulosclerosis 32 HP:0000096
27 recurrent myoglobinuria 32 HP:0003652

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


seizures, ataxia, muscle weakness, 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 29 COQ2

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 1

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

41
Liver, Skeletal Muscle

Publications for Coenzyme Q10 Deficiency, Primary, 1

Variations for Coenzyme Q10 Deficiency, Primary, 1

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

75
# 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 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.7(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh37 Chromosome 4, 84191035: 84191035
2 COQ2 NM_015697.7(COQ2): c.890A> G (p.Tyr297Cys) single nucleotide variant Pathogenic rs121918230 GRCh38 Chromosome 4, 83269882: 83269882
3 COQ2 COQ2, 1-BP DEL, 1198T deletion Pathogenic
4 COQ2 NM_015697.7(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic rs121918231 GRCh37 Chromosome 4, 84194751: 84194751
5 COQ2 NM_015697.7(COQ2): c.590G> A (p.Arg197His) single nucleotide variant Pathogenic rs121918231 GRCh38 Chromosome 4, 83273598: 83273598
6 COQ2 NM_015697.7(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh37 Chromosome 4, 84194658: 84194658
7 COQ2 NM_015697.7(COQ2): c.683A> G (p.Asn228Ser) single nucleotide variant Pathogenic rs121918232 GRCh38 Chromosome 4, 83273505: 83273505
8 COQ2 NM_015697.7(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh37 Chromosome 4, 84200234: 84200234
9 COQ2 NM_015697.7(COQ2): c.437G> A (p.Ser146Asn) single nucleotide variant Pathogenic rs121918233 GRCh38 Chromosome 4, 83279081: 83279081
10 COQ2 NM_015697.7(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh37 Chromosome 4, 84205872: 84205872
11 COQ2 NM_015697.7(COQ2): c.196G> T (p.Val66Leu) single nucleotide variant Benign rs6818847 GRCh38 Chromosome 4, 83284719: 83284719
12 COQ2 NM_015697.7(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh37 Chromosome 4, 84191031: 84191031
13 COQ2 NM_015697.7(COQ2): c.894T> C (p.Asp298=) single nucleotide variant Benign rs6535454 GRCh38 Chromosome 4, 83269878: 83269878
14 COQ2 NM_015697.7(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh37 Chromosome 4, 84188850: 84188850
15 COQ2 NM_015697.7(COQ2): c.990C> T (p.Ser330=) single nucleotide variant Benign/Likely benign rs1129617 GRCh38 Chromosome 4, 83267697: 83267697
16 COQ2 NM_015697.7(COQ2): c.16C> A (p.Gln6Lys) single nucleotide variant Uncertain significance rs752575160 GRCh37 Chromosome 4, 84206052: 84206052
17 COQ2 NM_015697.7(COQ2): c.16C> A (p.Gln6Lys) single nucleotide variant Uncertain significance rs752575160 GRCh38 Chromosome 4, 83284899: 83284899
18 COQ2 NM_015697.8(COQ2): c.854C> G (p.Pro285Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 83269918: 83269918
19 COQ2 NM_015697.8(COQ2): c.854C> G (p.Pro285Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 84191071: 84191071

Expression for Coenzyme Q10 Deficiency, Primary, 1

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 1.

Pathways for Coenzyme Q10 Deficiency, Primary, 1

GO Terms for Coenzyme Q10 Deficiency, Primary, 1

Sources for Coenzyme Q10 Deficiency, Primary, 1

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