COQ10D2
MCID: CNZ007
MIFTS: 34

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 72 29 13 6 70
Coq10d2 57 12 72
Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome 12 58
Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome 12 58
Primary Coenzyme Q10 Deficiency 2 12 15
Coenzyme Q10 Deficiency, Primary, Type 2 39

Characteristics:

Orphanet epidemiological data:

58
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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

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


HPO:

31
coenzyme q10 deficiency, primary, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070239
OMIM® 57 614651
OMIM Phenotypic Series 57 PS607426
MeSH 44 D028361
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA254898
UMLS 70 C3553354

Summaries for Coenzyme Q10 Deficiency, Primary, 2

UniProtKB/Swiss-Prot : 72 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, also known as coq10d2, is related to hypercholesterolemia, familial, 4 and frasier syndrome. An important gene associated with Coenzyme Q10 Deficiency, Primary, 2 is PDSS1 (Decaprenyl Diphosphate Synthase Subunit 1), and among its related pathways/superpathways is Ubiquinol biosynthesis. Related phenotypes are macrocephaly and optic atrophy

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

More information from OMIM: 614651 PS607426

Related Diseases for Coenzyme Q10 Deficiency, Primary, 2

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 2:



Diseases related to Coenzyme Q10 Deficiency, Primary, 2

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 2

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 optic atrophy 31 HP:0000648
3 intellectual disability, mild 31 HP:0001256
4 obesity 31 HP:0001513
5 mitral regurgitation 31 HP:0001653
6 areflexia 31 HP:0001284
7 increased serum lactate 31 HP:0002151
8 peripheral neuropathy 31 HP:0009830
9 pulmonary arterial hypertension 31 HP:0002092
10 cutis marmorata 31 HP:0000965
11 aortic regurgitation 31 HP:0001659

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Growth Weight:
obesity

Neurologic Peripheral Nervous System:
areflexia
peripheral neuropathy

Neurologic Central Nervous System:
mental retardation, mild

Cardiovascular Vascular:
pulmonary artery hypertension

Head And Neck Ears:
deafness, early-onset

Head And Neck Eyes:
optic atrophy

Cardiovascular Heart:
mitral regurgitation
aortic regurgitation
valvulopathy

Laboratory Abnormalities:
increased serum lactate

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Coenzyme Q10 Deficiency, Primary, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.55 ABI1 COQ4 COQ6 COQ8B DYNC2I1
2 growth/size/body region MP:0005378 9.5 ABI1 COQ6 COQ8B DYNC2I1 LMBR1 PDSS1
3 mortality/aging MP:0010768 9.17 ABI1 COQ4 COQ6 COQ8B DYNC2I1 LMBR1

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

Articles related to Coenzyme Q10 Deficiency, Primary, 2:

# Title Authors PMID Year
1
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 57 6
17332895 2007
2
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 6
22494076 2012

Variations for Coenzyme Q10 Deficiency, Primary, 2

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

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDSS1 NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs) Insertion Pathogenic 375347 rs1057519353 GRCh37: 10:27012786-27012787
GRCh38: 10:26723857-26723858
2 PDSS1 NM_014317.5(PDSS1):c.1164_1165del (p.Ile388fs) Deletion Pathogenic 1033282 GRCh37: 10:27035318-27035319
GRCh38: 10:26746389-26746390
3 PDSS1 NM_014317.5(PDSS1):c.130-2A>G SNV Pathogenic 1033283 GRCh37: 10:26991089-26991089
GRCh38: 10:26702160-26702160
4 PDSS1 NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu) SNV Pathogenic 3237 rs119463988 GRCh37: 10:27024406-27024406
GRCh38: 10:26735477-26735477
5 PDSS1 NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg) SNV Pathogenic 375348 rs1057519354 GRCh37: 10:27035262-27035262
GRCh38: 10:26746333-26746333
6 PDSS1 NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) SNV Conflicting interpretations of pathogenicity 138683 rs116424900 GRCh37: 10:27009268-27009268
GRCh38: 10:26720339-26720339
7 PDSS1 NM_014317.5(PDSS1):c.467+9T>G SNV Uncertain significance 509560 rs202187965 GRCh37: 10:26998706-26998706
GRCh38: 10:26709777-26709777
8 ABI1 , PDSS1 NM_014317.5(PDSS1):c.*147A>G SNV Uncertain significance 879951 GRCh37: 10:27035549-27035549
GRCh38: 10:26746620-26746620
9 PDSS1 NM_014317.5(PDSS1):c.1108-7C>G SNV Uncertain significance 214977 rs367942639 GRCh37: 10:27035255-27035255
GRCh38: 10:26746326-26746326
10 PDSS1 NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys) SNV Uncertain significance 214986 rs142182789 GRCh37: 10:27012811-27012811
GRCh38: 10:26723882-26723882
11 PDSS1 NM_014317.5(PDSS1):c.94T>A (p.Leu32Met) SNV Uncertain significance 1033284 GRCh37: 10:26986734-26986734
GRCh38: 10:26697805-26697805
12 PDSS1 NM_014317.5(PDSS1):c.243C>T (p.Thr81=) SNV Uncertain significance 299697 rs762902803 GRCh37: 10:26994230-26994230
GRCh38: 10:26705301-26705301
13 ABI1 , PDSS1 NM_014317.5(PDSS1):c.*262T>C SNV Uncertain significance 299707 rs886046937 GRCh37: 10:27035664-27035664
GRCh38: 10:26746735-26746735
14 PDSS1 NM_014317.5(PDSS1):c.130-10G>T SNV Uncertain significance 299695 rs551306397 GRCh37: 10:26991081-26991081
GRCh38: 10:26702152-26702152
15 PDSS1 NM_014317.5(PDSS1):c.215_221del (p.Cys72fs) Deletion Uncertain significance 632134 rs1564416478 GRCh37: 10:26993654-26993660
GRCh38: 10:26704725-26704731
16 PDSS1 NM_014317.5(PDSS1):c.860T>C (p.Val287Ala) SNV Uncertain significance 299699 rs367783149 GRCh37: 10:27024197-27024197
GRCh38: 10:26735268-26735268
17 PDSS1 NM_014317.5(PDSS1):c.*40T>C SNV Uncertain significance 299702 rs201474044 GRCh37: 10:27035442-27035442
GRCh38: 10:26746513-26746513
18 PDSS1 NM_014317.5(PDSS1):c.941C>T (p.Ser314Leu) SNV Uncertain significance 299700 rs766516366 GRCh37: 10:27024423-27024423
GRCh38: 10:26735494-26735494
19 PDSS1 NM_014317.5(PDSS1):c.*47A>G SNV Uncertain significance 299703 rs200899328 GRCh37: 10:27035449-27035449
GRCh38: 10:26746520-26746520
20 PDSS1 NM_014317.5(PDSS1):c.97G>A (p.Gly33Arg) SNV Uncertain significance 299693 rs886046933 GRCh37: 10:26986737-26986737
GRCh38: 10:26697808-26697808
21 PDSS1 NM_014317.5(PDSS1):c.51G>A (p.Ala17=) SNV Uncertain significance 299691 rs886046932 GRCh37: 10:26986691-26986691
GRCh38: 10:26697762-26697762
22 PDSS1 NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) SNV Uncertain significance 299692 rs763915931 GRCh37: 10:26986723-26986723
GRCh38: 10:26697794-26697794
23 PDSS1 NM_014317.5(PDSS1):c.163-12T>C SNV Uncertain significance 299696 rs776345851 GRCh37: 10:26993594-26993594
GRCh38: 10:26704665-26704665
24 PDSS1 NM_014317.5(PDSS1):c.129+7T>C SNV Uncertain significance 299694 rs886046934 GRCh37: 10:26986776-26986776
GRCh38: 10:26697847-26697847
25 PDSS1 NM_014317.5(PDSS1):c.488G>A (p.Arg163His) SNV Uncertain significance 878128 GRCh37: 10:27009167-27009167
GRCh38: 10:26720238-26720238
26 PDSS1 NM_014317.5(PDSS1):c.592A>G (p.Ile198Val) SNV Uncertain significance 879594 GRCh37: 10:27009271-27009271
GRCh38: 10:26720342-26720342
27 PDSS1 NM_014317.5(PDSS1):c.686C>T (p.Ser229Phe) SNV Uncertain significance 879595 GRCh37: 10:27012811-27012811
GRCh38: 10:26723882-26723882
28 PDSS1 NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln) SNV Uncertain significance 879596 GRCh37: 10:27012975-27012975
GRCh38: 10:26724046-26724046
29 PDSS1 NM_014317.5(PDSS1):c.859G>A (p.Val287Met) SNV Uncertain significance 879597 GRCh37: 10:27024196-27024196
GRCh38: 10:26735267-26735267
30 PDSS1 NM_014317.5(PDSS1):c.999T>C (p.Thr333=) SNV Uncertain significance 879598 GRCh37: 10:27024481-27024481
GRCh38: 10:26735552-26735552
31 PDSS1 NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile) SNV Uncertain significance 879950 GRCh37: 10:27031498-27031498
GRCh38: 10:26742569-26742569
32 PDSS1 NM_014317.5(PDSS1):c.279C>T (p.Thr93=) SNV Uncertain significance 773795 rs779303490 GRCh37: 10:26994266-26994266
GRCh38: 10:26705337-26705337
33 ABI1 , PDSS1 NM_014317.5(PDSS1):c.*264A>T SNV Likely benign 299708 rs144623506 GRCh37: 10:27035666-27035666
GRCh38: 10:26746737-26746737
34 PDSS1 NM_014317.5(PDSS1):c.*3A>G SNV Likely benign 214978 rs115180525 GRCh37: 10:27035405-27035405
GRCh38: 10:26746476-26746476
35 PDSS1 NM_014317.5(PDSS1):c.426G>A (p.Ala142=) SNV Likely benign 299698 rs149274703 GRCh37: 10:26998656-26998656
GRCh38: 10:26709727-26709727
36 PDSS1 NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys) SNV Benign 138681 rs77826284 GRCh37: 10:26998637-26998637
GRCh38: 10:26709708-26709708
37 ABI1 , PDSS1 NM_014317.5(PDSS1):c.*157T>G SNV Benign 299706 rs1046187 GRCh37: 10:27035559-27035559
GRCh38: 10:26746630-26746630
38 PDSS1 NM_014317.5(PDSS1):c.162+13A>G SNV Benign 138685 rs12571799 GRCh37: 10:26991136-26991136
GRCh38: 10:26702207-26702207
39 PDSS1 NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) SNV Benign 138687 rs17855857 GRCh37: 10:26986729-26986729
GRCh38: 10:26697800-26697800
40 PDSS1 NM_014317.5(PDSS1):c.*76C>T SNV Benign 299704 rs12776877 GRCh37: 10:27035478-27035478
GRCh38: 10:26746549-26746549

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

72
# Symbol AA change Variation ID SNP ID
1 PDSS1 p.Asp308Glu VAR_034879 rs119463988

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

Pathways related to Coenzyme Q10 Deficiency, Primary, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.7 PDSS1 COQ6

GO Terms for Coenzyme Q10 Deficiency, Primary, 2

Cellular components related to Coenzyme Q10 Deficiency, Primary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 PDSS1 COQ8B COQ6 COQ4
2 extrinsic component of mitochondrial inner membrane GO:0031314 8.8 COQ8B COQ6 COQ4

Biological processes related to Coenzyme Q10 Deficiency, Primary, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 8.92 PDSS1 COQ8B COQ6 COQ4

Sources for Coenzyme Q10 Deficiency, Primary, 2

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
Content
Loading form....