MCID: CNZ008
MIFTS: 20

Coenzyme Q10 Deficiency, Primary, 6

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Ear diseases, Metabolic diseases, Fetal 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 75 29 13 6 73
Coq10d6 57 75
Familial Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness 59
Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness 75
Coenzyme Q10 Deficiency, Primary, Type 6 40
Srns with Sensorineural Deafness 75

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
coenzyme q10 deficiency, primary, 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset rapidly progressive


Classifications:



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

MalaCards based summary : Coenzyme Q10 Deficiency, Primary, 6, is also known as coq10d6. An important gene associated with Coenzyme Q10 Deficiency, Primary, 6 is COQ6 (Coenzyme Q6, Monooxygenase). Related phenotypes are seizures and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Coenzyme Q10 Deficiency, Primary, 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural deafness

Neurologic Central Nervous System:
seizures (uncommon)

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

Laboratory Abnormalities:
proteinuria


Clinical features from OMIM:

614650

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 sensorineural hearing impairment 32 HP:0000407
3 proteinuria 32 HP:0000093
4 nephrotic syndrome 32 HP:0000100
5 focal segmental glomerulosclerosis 32 HP:0000097
6 diffuse mesangial sclerosis 32 occasional (7.5%) HP:0001967

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

Variations for Coenzyme Q10 Deficiency, Primary, 6

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

75
# Symbol AA change Variation ID SNP ID
1 COQ6 p.Gly255Arg VAR_068216 rs1057519350Coenzyme
2 COQ6 p.Ala353Asp VAR_068218 rs397514479

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

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ6 COQ6, GLY255ARG single nucleotide variant Pathogenic
2 COQ6 NM_182476.2(COQ6): c.1058C> A (p.Ala353Asp) single nucleotide variant Pathogenic rs397514479 GRCh37 Chromosome 14, 74428042: 74428042
3 COQ6 NM_182476.2(COQ6): c.1058C> A (p.Ala353Asp) single nucleotide variant Pathogenic rs397514479 GRCh38 Chromosome 14, 73961339: 73961339
4 COQ6 COQ6, TRP447TER undetermined variant Pathogenic
5 COQ6 COQ6, 1-BP DEL, 1383G deletion Pathogenic
6 COQ6 NM_182476.2(COQ6): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs189840848 GRCh37 Chromosome 14, 74424852: 74424852
7 COQ6 NM_182476.2(COQ6): c.484C> T (p.Arg162Ter) single nucleotide variant Pathogenic rs189840848 GRCh38 Chromosome 14, 73958149: 73958149
8 COQ6 COQ6, TRP188TER single nucleotide variant Pathogenic
9 COQ6 NM_182476.2(COQ6): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs1057519349 GRCh37 Chromosome 14, 74424932: 74424932
10 COQ6 NM_182476.2(COQ6): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs1057519349 GRCh38 Chromosome 14, 73958229: 73958229
11 COQ6 NM_182476.2(COQ6): c.763G> A (p.Gly255Arg) single nucleotide variant Pathogenic rs1057519350 GRCh37 Chromosome 14, 74425907: 74425907
12 COQ6 NM_182476.2(COQ6): c.763G> A (p.Gly255Arg) single nucleotide variant Pathogenic rs1057519350 GRCh38 Chromosome 14, 73959204: 73959204
13 COQ6 NM_182476.2(COQ6): c.1235A> G (p.Tyr412Cys) single nucleotide variant Pathogenic rs374270071 GRCh38 Chromosome 14, 73961761: 73961761
14 COQ6 NM_182476.2(COQ6): c.1235A> G (p.Tyr412Cys) single nucleotide variant Pathogenic rs374270071 GRCh37 Chromosome 14, 74428464: 74428464
15 COQ6 NM_182476.2(COQ6): c.1341G> A (p.Trp447Ter) single nucleotide variant Pathogenic rs1057519351 GRCh37 Chromosome 14, 74428570: 74428570
16 COQ6 NM_182476.2(COQ6): c.1341G> A (p.Trp447Ter) single nucleotide variant Pathogenic rs1057519351 GRCh38 Chromosome 14, 73961867: 73961867
17 COQ6 NM_182476.2(COQ6): c.1383delG (p.Ile462LeufsTer18) deletion Pathogenic rs1057519352 GRCh38 Chromosome 14, 73962975: 73962975
18 COQ6 NM_182476.2(COQ6): c.1383delG (p.Ile462LeufsTer18) deletion Pathogenic rs1057519352 GRCh37 Chromosome 14, 74429678: 74429678
19 COQ6 NM_182476.2(COQ6): c.1069delG (p.Val357Serfs) deletion Pathogenic GRCh37 Chromosome 14, 74428053: 74428053
20 COQ6 NM_182476.2(COQ6): c.1069delG (p.Val357Serfs) deletion Pathogenic GRCh38 Chromosome 14, 73961350: 73961350
21 COQ6 NM_182480.2(COQ6): c.1181A> C (p.His394Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 74428485: 74428485
22 COQ6 NM_182480.2(COQ6): c.1181A> C (p.His394Pro) single nucleotide variant Uncertain significance 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

Sources for Coenzyme Q10 Deficiency, Primary, 6

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