COQ10D3
MCID: CNZ004
MIFTS: 18

Coenzyme Q10 Deficiency, Primary, 3 (COQ10D3)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 3

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 3:

Name: Coenzyme Q10 Deficiency, Primary, 3 58 12 76 30 13 6 74
Coq10d3 58 12 76
Coenzyme Q10 Deficiency, Primary, Type 3 41
Primary Coenzyme Q10 Deficiency 3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated may 2012)
this patient died at age 8 months


HPO:

33
coenzyme q10 deficiency, primary, 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coenzyme Q10 Deficiency, Primary, 3

UniProtKB/Swiss-Prot : 76 Coenzyme Q10 deficiency, primary, 3: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is 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.

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 3, is also known as coq10d3, and has symptoms including edema An important gene associated with Coenzyme Q10 Deficiency, Primary, 3 is PDSS2 (Decaprenyl Diphosphate Synthase Subunit 2). Related phenotypes are neonatal hypotonia and proteinuria

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of PDSS2 on chromosome 6q21.

Description from OMIM: 614652

Related Diseases for Coenzyme Q10 Deficiency, Primary, 3

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 3

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 3:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 33 HP:0001319
2 proteinuria 33 HP:0000093
3 edema 33 HP:0000969
4 feeding difficulties 33 HP:0011968
5 nephrotic syndrome 33 HP:0000100
6 increased serum lactate 33 HP:0002151
7 status epilepticus 33 HP:0002133
8 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
proteinuria
increased serum lactate

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
status epilepticus
seizures, refractory
hypotonia, neonatal
leigh syndrome
bilateral signals in the basal ganglia

Muscle Soft Tissue:
edema
coenzyme q10 deficiency
decreased respiratory complex ii+iii activity

Genitourinary Kidneys:
nephrotic syndrome

Head And Neck Eyes:
cortical blindness

Clinical features from OMIM:

614652

UMLS symptoms related to Coenzyme Q10 Deficiency, Primary, 3:


edema

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 3

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 3

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 3

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 3:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 3 30 PDSS2

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 3

Publications for Coenzyme Q10 Deficiency, Primary, 3

Variations for Coenzyme Q10 Deficiency, Primary, 3

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 3:

76
# Symbol AA change Variation ID SNP ID
1 PDSS2 p.Ser382Leu VAR_055398 rs118203956

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDSS2 NM_020381.3(PDSS2): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs118203955 GRCh37 Chromosome 6, 107531687: 107531687
2 PDSS2 NM_020381.3(PDSS2): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs118203955 GRCh38 Chromosome 6, 107210483: 107210483
3 PDSS2 NM_020381.3(PDSS2): c.1145C> T (p.Ser382Leu) single nucleotide variant Pathogenic rs118203956 GRCh37 Chromosome 6, 107475878: 107475878
4 PDSS2 NM_020381.3(PDSS2): c.1145C> T (p.Ser382Leu) single nucleotide variant Pathogenic rs118203956 GRCh38 Chromosome 6, 107154674: 107154674
5 PDSS2 NM_020381.3(PDSS2): c.1190_1191delGA (p.Arg397Ilefs) deletion Likely pathogenic rs782439454 GRCh37 Chromosome 6, 107475832: 107475833
6 PDSS2 NM_020381.3(PDSS2): c.1190_1191delGA (p.Arg397Ilefs) deletion Likely pathogenic rs782439454 GRCh38 Chromosome 6, 107154628: 107154629

Expression for Coenzyme Q10 Deficiency, Primary, 3

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 3.

Pathways for Coenzyme Q10 Deficiency, Primary, 3

GO Terms for Coenzyme Q10 Deficiency, Primary, 3

Sources for Coenzyme Q10 Deficiency, Primary, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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