COQ10D6
MCID: CNZ008
MIFTS: 26

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 58 12 76 30 13 6 74
Coq10d6 58 12 76
Familial Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness 12 60
Primary Coenzyme Q10 Deficiency 6 12 15
Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness 76
Coenzyme Q10 Deficiency, Primary, Type 6 41
Srns with Sensorineural Deafness 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
rapidly progressive
death in childhood may occur due to end-stage renal disease
treatment with oral coenzyme q may ameliorate symptoms


HPO:

33
coenzyme q10 deficiency, primary, 6:
Onset and clinical course rapidly progressive infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070243
OMIM 58 614650
ICD10 via Orphanet 35 N04.8
Orphanet 60 ORPHA280406
UMLS 74 C3553349

Summaries for Coenzyme Q10 Deficiency, Primary, 6

OMIM : 58 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 focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (603278) and NPHS1 (256300). (614650)

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 6, also known as coq10d6, is related to coenzyme q10 deficiency disease and nephrotic syndrome. An important gene associated with Coenzyme Q10 Deficiency, Primary, 6 is COQ6 (Coenzyme Q6, Monooxygenase). Related phenotypes are seizures 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 coenzyme q10 deficiency disease 10.1
2 nephrotic syndrome 9.6 COQ6 COQ8B

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 6

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 diffuse mesangial sclerosis 33 occasional (7.5%) HP:0001967
3 sensorineural hearing impairment 33 HP:0000407
4 proteinuria 33 HP:0000093
5 nephrotic syndrome 33 HP:0000100
6 focal segmental glomerulosclerosis 33 HP:0000097

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
proteinuria
nephrotic syndrome
focal segmental glomerulosclerosis
diffuse mesangial sclerosis (less common)

Head And Neck Ears:
sensorineural deafness

Laboratory Abnormalities:
proteinuria

Neurologic Central Nervous System:
seizures (uncommon)

Clinical features from OMIM:

614650

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 30 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 Year
1
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. ( 30682496 )
2019
2
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. ( 21540551 )
2011

Variations for Coenzyme Q10 Deficiency, Primary, 6

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

76
# Symbol AA change Variation ID SNP ID
1 COQ6 p.Gly255Arg VAR_068216 rs105751935
2 COQ6 p.Ala353Asp VAR_068218 rs397514479

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ6 NM_182476.2(COQ6): c.1058C> A (p.Ala353Asp) single nucleotide variant Pathogenic rs397514479 GRCh37 Chromosome 14, 74428042: 74428042
2 COQ6 NM_182476.2(COQ6): c.1058C> A (p.Ala353Asp) single nucleotide variant Pathogenic rs397514479 GRCh38 Chromosome 14, 73961339: 73961339
3 COQ6 NM_182476.2(COQ6): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs189840848 GRCh37 Chromosome 14, 74424852: 74424852
4 COQ6 NM_182476.2(COQ6): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs189840848 GRCh38 Chromosome 14, 73958149: 73958149
5 COQ6 NM_182476.2(COQ6): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs1057519349 GRCh37 Chromosome 14, 74424932: 74424932
6 COQ6 NM_182476.2(COQ6): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs1057519349 GRCh38 Chromosome 14, 73958229: 73958229
7 COQ6 NM_182476.2(COQ6): c.763G> A (p.Gly255Arg) single nucleotide variant Pathogenic rs1057519350 GRCh37 Chromosome 14, 74425907: 74425907
8 COQ6 NM_182476.2(COQ6): c.763G> A (p.Gly255Arg) single nucleotide variant Pathogenic rs1057519350 GRCh38 Chromosome 14, 73959204: 73959204
9 COQ6 NM_182476.2(COQ6): c.1235A> G (p.Tyr412Cys) single nucleotide variant Pathogenic rs374270071 GRCh38 Chromosome 14, 73961761: 73961761
10 COQ6 NM_182476.2(COQ6): c.1235A> G (p.Tyr412Cys) single nucleotide variant Pathogenic rs374270071 GRCh37 Chromosome 14, 74428464: 74428464
11 COQ6 NM_182476.2(COQ6): c.1341G> A (p.Trp447Ter) single nucleotide variant Pathogenic rs1057519351 GRCh37 Chromosome 14, 74428570: 74428570
12 COQ6 NM_182476.2(COQ6): c.1341G> A (p.Trp447Ter) single nucleotide variant Pathogenic rs1057519351 GRCh38 Chromosome 14, 73961867: 73961867
13 COQ6 NM_182476.2(COQ6): c.1383delG (p.Ile462LeufsTer18) deletion Pathogenic rs1057519352 GRCh38 Chromosome 14, 73962975: 73962975
14 COQ6 NM_182476.2(COQ6): c.1383delG (p.Ile462LeufsTer18) deletion Pathogenic rs1057519352 GRCh37 Chromosome 14, 74429678: 74429678
15 COQ6 NM_182476.2(COQ6): c.1069del (p.Val357Serfs) deletion Pathogenic rs1555358729 GRCh37 Chromosome 14, 74428053: 74428053
16 COQ6 NM_182476.2(COQ6): c.1069del (p.Val357Serfs) deletion Pathogenic rs1555358729 GRCh38 Chromosome 14, 73961350: 73961350
17 COQ6 NM_182480.2(COQ6): c.1181A> C (p.His394Pro) single nucleotide variant Uncertain significance rs1180320611 GRCh37 Chromosome 14, 74428485: 74428485
18 COQ6 NM_182480.2(COQ6): c.1181A> C (p.His394Pro) single nucleotide variant Uncertain significance rs1180320611 GRCh38 Chromosome 14, 73961782: 73961782

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

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 extrinsic component of mitochondrial inner membrane GO:0031314 8.62 COQ6 COQ8B

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 8.62 COQ6 COQ8B

Sources for Coenzyme Q10 Deficiency, Primary, 6

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
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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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