COQ10D3
MCID: CNZ004
MIFTS: 32

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 57 12 72 29 13 6 70
Coq10d3 57 12 72
Primary Coenzyme Q10 Deficiency 3 12 15
Coenzyme Q10 Deficiency, Primary, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
coenzyme q10 deficiency, primary, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070240
OMIM® 57 614652
OMIM Phenotypic Series 57 PS607426
MeSH 44 D028361
UMLS 70 C3553358

Summaries for Coenzyme Q10 Deficiency, Primary, 3

UniProtKB/Swiss-Prot : 72 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, also known as coq10d3, is related to mitochondrial myopathy and familial nephrotic syndrome, and has symptoms including edema An important gene associated with Coenzyme Q10 Deficiency, Primary, 3 is PDSS2 (Decaprenyl Diphosphate Synthase Subunit 2), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Ubiquinol biosynthesis. 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.

More information from OMIM: 614652 PS607426

Related Diseases for Coenzyme Q10 Deficiency, Primary, 3

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 3:



Diseases related to Coenzyme Q10 Deficiency, Primary, 3

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 3

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 31 HP:0001319
2 proteinuria 31 HP:0000093
3 nephrotic syndrome 31 HP:0000100
4 increased serum lactate 31 HP:0002151
5 feeding difficulties 31 HP:0011968
6 status epilepticus 31 HP:0002133
7 edema 31 HP:0000969
8 cerebral visual impairment 31 HP:0100704

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
proteinuria
increased serum lactate

Abdomen Gastrointestinal:
feeding difficulties

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

Genitourinary Kidneys:
nephrotic syndrome

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

Head And Neck Eyes:
cortical blindness

Clinical features from OMIM®:

614652 (Updated 20-May-2021)

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


edema

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency, Primary, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 COQ4 COQ6 COQ8B COQ9 PDSS1 PDSS2

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 29 PDSS2

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 3

Publications for Coenzyme Q10 Deficiency, Primary, 3

Articles related to Coenzyme Q10 Deficiency, Primary, 3:

# Title Authors PMID Year
1
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 57 6
17186472 2006
2
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. 6
20495179 2010
3
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 6
17374725 2007

Variations for Coenzyme Q10 Deficiency, Primary, 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDSS2 NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) SNV Pathogenic 1200 rs118203955 GRCh37: 6:107531687-107531687
GRCh38: 6:107210483-107210483
2 PDSS2 NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) SNV Pathogenic 1201 rs118203956 GRCh37: 6:107475878-107475878
GRCh38: 6:107154674-107154674
3 PDSS2 NM_020381.4(PDSS2):c.129dup (p.Lys44fs) Duplication Pathogenic 1028164 GRCh37: 6:107780360-107780361
GRCh38: 6:107459156-107459157
4 PDSS2 NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) SNV Uncertain significance 214988 rs372737420 GRCh37: 6:107566754-107566754
GRCh38: 6:107245550-107245550
5 PDSS2 NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) Deletion Uncertain significance 522780 rs782439454 GRCh37: 6:107475832-107475833
GRCh38: 6:107154628-107154629
6 PDSS2 NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) SNV Uncertain significance 214987 rs35555197 GRCh37: 6:107566787-107566787
GRCh38: 6:107245583-107245583
7 PDSS2 NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp) SNV Uncertain significance 1030705 GRCh37: 6:107475872-107475872
GRCh38: 6:107154668-107154668
8 PDSS2 NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) SNV Uncertain significance 214989 rs201388841 GRCh37: 6:107475977-107475977
GRCh38: 6:107154773-107154773
9 PDSS2 NM_020381.4(PDSS2):c.837G>A (p.Met279Ile) SNV Uncertain significance 1032839 GRCh37: 6:107533352-107533352
GRCh38: 6:107212148-107212148

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

72
# Symbol AA change Variation ID SNP ID
1 PDSS2 p.Ser382Leu VAR_055398 rs118203956

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

Cellular components related to Coenzyme Q10 Deficiency, Primary, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.43 COQ9 COQ6 COQ4
2 mitochondrion GO:0005739 9.43 PDSS2 PDSS1 COQ9 COQ8B COQ6 COQ4
3 transferase complex GO:1990234 9.16 PDSS2 PDSS1
4 extrinsic component of mitochondrial inner membrane GO:0031314 8.8 COQ8B COQ6 COQ4

Biological processes related to Coenzyme Q10 Deficiency, Primary, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 9.1 PDSS2 PDSS1 COQ9 COQ8B COQ6 COQ4
2 isoprenoid biosynthetic process GO:0008299 8.96 PDSS2 PDSS1

Molecular functions related to Coenzyme Q10 Deficiency, Primary, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 prenyltransferase activity GO:0004659 9.26 PDSS2 PDSS1
2 all-trans-decaprenyl-diphosphate synthase activity GO:0097269 9.16 PDSS2 PDSS1
3 trans-octaprenyltranstransferase activity GO:0050347 8.96 PDSS2 PDSS1
4 trans-hexaprenyltranstransferase activity GO:0000010 8.62 PDSS2 PDSS1

Sources for Coenzyme Q10 Deficiency, Primary, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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