Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 11 |
OrphanetNr: | 93216 |
OMIM Id: |
600995
614196 |
ICD-10: |
N04.0 |
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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Familial idiopathic steroid-resistant nephrotic syndrome
-Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0003774) | Stage 5 chronic kidney disease | 78 / 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:0003073) | Hypoalbuminemia | 40 / 7739 | ||||
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(HPO:0003077) | Hyperlipidemia | 37 / 7739 | ||||
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(HPO:0000969) | Edema | 117 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0003678) | Rapidly progressive | 33 / 7739 | ||||
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(HPO:0003621) | Juvenile onset | 105 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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