COQ10D2
MCID: CNZ007
MIFTS: 21

Coenzyme Q10 Deficiency, Primary, 2 (COQ10D2)

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

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 2

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 2:

Name: Coenzyme Q10 Deficiency, Primary, 2 58 12 76 30 13 6 74
Coq10d2 58 12 76
Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome 12 60
Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome 12 60
Coenzyme Q10 Deficiency, Primary, Type 2 41
Primary Coenzyme Q10 Deficiency 2 12

Characteristics:

Orphanet epidemiological data:

60
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two sibs born of consanguineous moroccan parents have been reported (last curated may 2012)


HPO:

33
coenzyme q10 deficiency, primary, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 2

UniProtKB/Swiss-Prot : 76 Coenzyme Q10 deficiency, primary, 2: An autosomal recessive multisystem disorder characterized by early- onset deafness, optic atrophy, mild mental retardation, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 2, is also known as coq10d2. An important gene associated with Coenzyme Q10 Deficiency, Primary, 2 is PDSS1 (Decaprenyl Diphosphate Synthase Subunit 1). Related phenotypes are macrocephaly and obesity

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1.

Description from OMIM: 614651

Related Diseases for Coenzyme Q10 Deficiency, Primary, 2

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 2

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 2:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 obesity 33 HP:0001513
3 optic atrophy 33 HP:0000648
4 intellectual disability, mild 33 HP:0001256
5 pulmonary arterial hypertension 33 HP:0002092
6 peripheral neuropathy 33 HP:0009830
7 increased serum lactate 33 HP:0002151
8 mitral regurgitation 33 HP:0001653
9 areflexia 33 HP:0001284
10 cutis marmorata 33 HP:0000965
11 aortic regurgitation 33 HP:0001659

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
optic atrophy

Laboratory Abnormalities:
increased serum lactate

Neurologic Central Nervous System:
mental retardation, mild

Cardiovascular Vascular:
pulmonary artery hypertension

Head And Neck Ears:
deafness, early-onset

Growth Weight:
obesity

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia

Cardiovascular Heart:
mitral regurgitation
aortic regurgitation
valvulopathy

Skin Nails Hair Skin:
livedo reticularis

Muscle Soft Tissue:
muscle biopsy shows mitochondrial aggregates
coenzyme q10 deficiency
decreased respiratory complex i+iii and ii+iii activity

Clinical features from OMIM:

614651

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 2

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 2

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 2

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 2:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 2 30 PDSS1

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 2

Publications for Coenzyme Q10 Deficiency, Primary, 2

Articles related to Coenzyme Q10 Deficiency, Primary, 2:

# Title Authors Year
1
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. ( 17332895 )
2007

Variations for Coenzyme Q10 Deficiency, Primary, 2

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 2:

76
# Symbol AA change Variation ID SNP ID
1 PDSS1 p.Asp308Glu VAR_034879 rs119463988

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDSS1 NM_014317.4(PDSS1): c.924T> G (p.Asp308Glu) single nucleotide variant Pathogenic rs119463988 GRCh37 Chromosome 10, 27024406: 27024406
2 PDSS1 NM_014317.4(PDSS1): c.924T> G (p.Asp308Glu) single nucleotide variant Pathogenic rs119463988 GRCh38 Chromosome 10, 26735477: 26735477
3 PDSS1 NM_014317.4(PDSS1): c.589A> G (p.Lys197Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs116424900 GRCh37 Chromosome 10, 27009268: 27009268
4 PDSS1 NM_014317.4(PDSS1): c.589A> G (p.Lys197Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs116424900 GRCh38 Chromosome 10, 26720339: 26720339
5 PDSS1 NM_014317.4(PDSS1): c.89G> T (p.Gly30Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17855857 GRCh37 Chromosome 10, 26986729: 26986729
6 PDSS1 NM_014317.4(PDSS1): c.89G> T (p.Gly30Val) single nucleotide variant Conflicting interpretations of pathogenicity rs17855857 GRCh38 Chromosome 10, 26697800: 26697800
7 PDSS1 NM_014317.4(PDSS1): c.661_662insT (p.Arg221Leufs) insertion Pathogenic rs1057519353 GRCh38 Chromosome 10, 26723857: 26723858
8 PDSS1 NM_014317.4(PDSS1): c.661_662insT (p.Arg221Leufs) insertion Pathogenic rs1057519353 GRCh37 Chromosome 10, 27012786: 27012787
9 PDSS1 NM_014317.4(PDSS1): c.1108A> C (p.Ser370Arg) single nucleotide variant Pathogenic rs1057519354 GRCh38 Chromosome 10, 26746333: 26746333
10 PDSS1 NM_014317.4(PDSS1): c.1108A> C (p.Ser370Arg) single nucleotide variant Pathogenic rs1057519354 GRCh37 Chromosome 10, 27035262: 27035262

Expression for Coenzyme Q10 Deficiency, Primary, 2

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 2.

Pathways for Coenzyme Q10 Deficiency, Primary, 2

GO Terms for Coenzyme Q10 Deficiency, Primary, 2

Sources for Coenzyme Q10 Deficiency, Primary, 2

3 CDC
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10 dbSNP
11 DGIdb
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20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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