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 57 12 75 29 13 6 73
Coq10d2 57 12 75
Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome 59
Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome 59
Coenzyme Q10 Deficiency, Primary, Type 2 40
Primary Coenzyme Q10 Deficiency 2 12

Characteristics:

Orphanet epidemiological data:

59
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
coenzyme q10 deficiency, primary, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 2

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 obesity 32 HP:0001513
3 optic atrophy 32 HP:0000648
4 intellectual disability, mild 32 HP:0001256
5 pulmonary arterial hypertension 32 HP:0002092
6 peripheral neuropathy 32 HP:0009830
7 increased serum lactate 32 HP:0002151
8 mitral regurgitation 32 HP:0001653
9 areflexia 32 HP:0001284
10 cutis marmorata 32 HP:0000965
11 aortic regurgitation 32 HP:0001659

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 29 PDSS1

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 2

Publications for Coenzyme Q10 Deficiency, Primary, 2

Variations for Coenzyme Q10 Deficiency, Primary, 2

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

75
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....