Familial steroid-resistant nephrotic syndrome with sensorineural deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
COQ10D6 |
| Number of Symptoms | 10 |
| OrphanetNr: | 280406 |
| OMIM Id: |
614650
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| ICD-10: |
N04 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary glomerular disease
-Rare genetic disease -Rare renal disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0001967) | Diffuse mesangial sclerosis | rare [HPO:skoehler] | 11 / 7739 | |||
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(HPO:0000100) | Nephrotic syndrome | 83 / 7739 | ||||
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(HPO:0000097) | Focal segmental glomerulosclerosis | 37 / 7739 | ||||
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(HPO:0000093) | Proteinuria | 169 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0003678) | Rapidly progressive | 33 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Heeringa et al. (2011) reported 11 children from 5 families with autosomal recessive coenzyme Q10 deficiency manifest as nephrotic syndrome. Nine of the 11 patients had sensorineural deafness. The patients presented with proteinuria at a median age of ... |
| Molecular genetics OMIM |
By positional cloning, Heeringa et al. (2011) identified homozygous or compound heterozygous pathogenic mutations in the COQ6 gene (614647.0001-614647.0004) in 11 children from 5 families with autosomal recessive coenzyme Q deficiency manifest as nephrotic syndrome. Subsequent analysis of ... |