COQ10D6
MCID: CNZ008
MIFTS: 34

Coenzyme Q10 Deficiency, Primary, 6 (COQ10D6)

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

Aliases & Classifications for Coenzyme Q10 Deficiency, Primary, 6

MalaCards integrated aliases for Coenzyme Q10 Deficiency, Primary, 6:

Name: Coenzyme Q10 Deficiency, Primary, 6 57 12 72 29 13 6 70
Coq10d6 57 12 72
Familial Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness 12 58
Primary Coenzyme Q10 Deficiency 6 12 15
Familial Steroid-Resistant Nephrotic Syndrome with Sensorineural Hearing Loss 58
Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness 72
Coenzyme Q10 Deficiency, Primary, Type 6 39
Srns with Sensorineural Deafness 72

Characteristics:

Orphanet epidemiological data:

58
familial steroid-resistant nephrotic syndrome with sensorineural deafness
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
rapidly progressive
onset in infancy
death in childhood may occur due to end-stage renal disease
treatment with oral coenzyme q may ameliorate symptoms

Inheritance:
autosomal recessive


HPO:

31
coenzyme q10 deficiency, primary, 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070243
OMIM® 57 614650
OMIM Phenotypic Series 57 PS607426
ICD10 via Orphanet 33 N04.8
Orphanet 58 ORPHA280406
UMLS 70 C3553349

Summaries for Coenzyme Q10 Deficiency, Primary, 6

OMIM® : 57 Primary coenzyme Q10 deficiency-6 is an autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis (FSGS). Some patients may show a favorable response to oral coenzyme Q supplementation (summary by Heeringa et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278) and NPHS1 (256300). (614650) (Updated 20-May-2021)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 6, also known as coq10d6, is related to nephrotic syndrome and focal segmental glomerulosclerosis. An important gene associated with Coenzyme Q10 Deficiency, Primary, 6 is COQ6 (Coenzyme Q6, Monooxygenase), and among its related pathways/superpathways is Ubiquinol biosynthesis. Related phenotypes are seizure and diffuse mesangial sclerosis

Disease Ontology : 12 A primary coenzyme Q10 deficiency that has material basis in an autosomal recessive mutation of COQ6 on chromosome 14q24.3.

UniProtKB/Swiss-Prot : 72 Coenzyme Q10 deficiency, primary, 6: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.

Related Diseases for Coenzyme Q10 Deficiency, Primary, 6

Diseases related to Coenzyme Q10 Deficiency, Primary, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome 29.5 PDSS2 COQ8B COQ6
2 focal segmental glomerulosclerosis 29.3 PDSS2 COQ8B COQ6
3 coenzyme q10 deficiency disease 27.7 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
4 branchiootic syndrome 1 9.9
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
6 autosomal recessive disease 9.9
7 sensorineural hearing loss 9.9
8 end stage renal disease 9.9
9 familial nephrotic syndrome 9.9 PDSS2 COQ8B
10 frasier syndrome 9.8 PDSS2 COQ8B COQ6
11 hypercholesterolemia, familial, 4 9.7 PDSS1 COQ6
12 leigh syndrome with nephrotic syndrome 9.7 PDSS2 COQ8A
13 coenzyme q10 deficiency, primary, 2 9.6 PDSS1 COQ8B COQ6 COQ4
14 cardiofaciocutaneous syndrome 1 9.4 PDSS2 PDSS1 COQ8A
15 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.4 PDSS1 COQ9 COQ8A
16 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 PDSS2 PDSS1 COQ9 COQ6
17 mitochondrial complex i deficiency, nuclear type 1 9.4 COQ9 COQ8A COQ4
18 kearns-sayre syndrome 9.2 PDSS2 PDSS1 COQ9 COQ8A
19 hereditary ataxia 9.1 PDSS2 PDSS1 COQ9 COQ8A
20 coenzyme q10 deficiency, primary, 3 9.0 PDSS2 PDSS1 COQ9 COQ8B COQ6 COQ4
21 mitochondrial encephalomyopathy 8.9 PDSS2 PDSS1 COQ9 COQ8A COQ4
22 coenzyme q10 deficiency, primary, 4 8.8 PDSS1 COQ9 COQ8B COQ8A COQ6 COQ4
23 leigh syndrome 8.7 PDSS2 PDSS1 COQ9 COQ8A COQ6 COQ4
24 coenzyme q10 deficiency, primary, 7 8.5 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
25 coenzyme q10 deficiency, primary, 5 8.5 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
26 multiple acyl-coa dehydrogenase deficiency 8.5 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6

Graphical network of the top 20 diseases related to Coenzyme Q10 Deficiency, Primary, 6:



Diseases related to Coenzyme Q10 Deficiency, Primary, 6

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 6

Human phenotypes related to Coenzyme Q10 Deficiency, Primary, 6:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizure 31 occasional (7.5%) HP:0001250
2 diffuse mesangial sclerosis 31 occasional (7.5%) HP:0001967
3 sensorineural hearing impairment 31 HP:0000407
4 proteinuria 31 HP:0000093
5 nephrotic syndrome 31 HP:0000100
6 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
diffuse mesangial sclerosis (less common)

Head And Neck Ears:
sensorineural deafness

Head And Neck Eyes:
nystagmus (in 1 patient)
optic nerve atrophy (in 1 patient)
exotropia (in 1 patient)

Laboratory Abnormalities:
proteinuria

Neurologic Central Nervous System:
seizures (uncommon)

Clinical features from OMIM®:

614650 (Updated 20-May-2021)

Drugs & Therapeutics for Coenzyme Q10 Deficiency, Primary, 6

Search Clinical Trials , NIH Clinical Center for Coenzyme Q10 Deficiency, Primary, 6

Genetic Tests for Coenzyme Q10 Deficiency, Primary, 6

Genetic tests related to Coenzyme Q10 Deficiency, Primary, 6:

# Genetic test Affiliating Genes
1 Coenzyme Q10 Deficiency, Primary, 6 29 COQ6

Anatomical Context for Coenzyme Q10 Deficiency, Primary, 6

Publications for Coenzyme Q10 Deficiency, Primary, 6

Articles related to Coenzyme Q10 Deficiency, Primary, 6:

# Title Authors PMID Year
1
COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. 6 57
28117207 2017
2
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 6 57
21540551 2011
3
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. 6 61
30682496 2020
4
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. 6
24140869 2014

Variations for Coenzyme Q10 Deficiency, Primary, 6

ClinVar genetic disease variations for Coenzyme Q10 Deficiency, Primary, 6:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1069del (p.Val357fs) Deletion Pathogenic 434818 rs1555358729 GRCh37: 14:74428053-74428053
GRCh38: 14:73961350-73961350
2 COQ6 NM_182476.3(COQ6):c.189_191del (p.Lys64del) Deletion Pathogenic 992499 GRCh37: 14:74420161-74420163
GRCh38: 14:73953458-73953460
3 COQ6 , ENTPD5 NM_182476.3(COQ6):c.686A>C (p.Gln229Pro) SNV Pathogenic 992501 GRCh37: 14:74425747-74425747
GRCh38: 14:73959044-73959044
4 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter) SNV Pathogenic 807584 rs1594816203 GRCh37: 14:74428466-74428466
GRCh38: 14:73961763-73961763
5 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) SNV Pathogenic 31595 rs397514479 GRCh37: 14:74428042-74428042
GRCh38: 14:73961339-73961339
6 COQ6 , ENTPD5 NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) SNV Pathogenic 31598 rs189840848 GRCh37: 14:74424852-74424852
GRCh38: 14:73958149-73958149
7 COQ6 , ENTPD5 NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) SNV Pathogenic 375341 rs1057519349 GRCh37: 14:74424932-74424932
GRCh38: 14:73958229-73958229
8 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) SNV Pathogenic 375343 rs374270071 GRCh37: 14:74428464-74428464
GRCh38: 14:73961761-73961761
9 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) SNV Pathogenic 375344 rs1057519351 GRCh37: 14:74428570-74428570
GRCh38: 14:73961867-73961867
10 COQ6 , ENTPD5 NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) SNV Pathogenic 375342 rs1057519350 GRCh37: 14:74425907-74425907
GRCh38: 14:73959204-73959204
11 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1383del (p.Ile462fs) Deletion Pathogenic 375345 rs1057519352 GRCh37: 14:74429678-74429678
GRCh38: 14:73962975-73962975
12 COQ6 , ENTPD5 NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) SNV Pathogenic 807582 rs371260604 GRCh37: 14:74425926-74425926
GRCh38: 14:73959223-73959223
13 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu) SNV Likely pathogenic 807583 rs367817034 GRCh37: 14:74428063-74428063
GRCh38: 14:73961360-73961360
14 COQ6 , ENTPD5 NM_182476.3(COQ6):c.1256A>C (p.His419Pro) SNV Uncertain significance 522882 rs1180320611 GRCh37: 14:74428485-74428485
GRCh38: 14:73961782-73961782
15 COQ6 , ENTPD5 NM_182476.3(COQ6):c.357G>C (p.Gln119His) SNV Uncertain significance 830036 rs778339208 GRCh37: 14:74422212-74422212
GRCh38: 14:73955509-73955509
16 COQ6 NM_182476.3(COQ6):c.37C>T (p.Arg13Cys) SNV Uncertain significance 982722 GRCh37: 14:74417072-74417072
GRCh38: 14:73950369-73950369
17 FAM161B , COQ6 NM_182480.3(COQ6):c.41G>A (p.Trp14Ter) SNV Benign 136986 rs17094161 GRCh37: 14:74416836-74416836
GRCh38: 14:73950133-73950133

UniProtKB/Swiss-Prot genetic disease variations for Coenzyme Q10 Deficiency, Primary, 6:

72
# Symbol AA change Variation ID SNP ID
1 COQ6 p.Gly255Arg VAR_068216 rs105751935
2 COQ6 p.Ala353Asp VAR_068218 rs397514479

Expression for Coenzyme Q10 Deficiency, Primary, 6

Search GEO for disease gene expression data for Coenzyme Q10 Deficiency, Primary, 6.

Pathways for Coenzyme Q10 Deficiency, Primary, 6

Pathways related to Coenzyme Q10 Deficiency, Primary, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10 PDSS2 PDSS1 COQ9 COQ6

GO Terms for Coenzyme Q10 Deficiency, Primary, 6

Cellular components related to Coenzyme Q10 Deficiency, Primary, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
2 mitochondrial inner membrane GO:0005743 9.43 COQ9 COQ6 COQ4
3 transferase complex GO:1990234 9.16 PDSS2 PDSS1
4 extrinsic component of mitochondrial inner membrane GO:0031314 8.92 COQ8B COQ8A COQ6 COQ4

Biological processes related to Coenzyme Q10 Deficiency, Primary, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone biosynthetic process GO:0006744 9.17 PDSS2 PDSS1 COQ9 COQ8B COQ8A COQ6
2 isoprenoid biosynthetic process GO:0008299 8.96 PDSS2 PDSS1

Molecular functions related to Coenzyme Q10 Deficiency, Primary, 6 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, 6

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....