Familial idiopathic steroid-resistant nephrotic syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial idiopathic nephrotic syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 656 |
| OMIM Id: |
256370
600995 603278 603965 607832 610725 612551 613237 614131 614196 615244 615573 |
| 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 dominant Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Idiopathic nephrotic syndrome
-Rare genetic disease -Rare renal disease Primary glomerular disease -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0002667) | Nephroblastoma | 30 / 7739 | ||||
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(HPO:0000100) | Nephrotic syndrome | 83 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
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(HPO:0001967) | Diffuse mesangial sclerosis | 11 / 7739 | ||||
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(HPO:0000097) | Focal segmental glomerulosclerosis | rare [HPO:skoehler] | 37 / 7739 | |||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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