Hereditary renal hypouricemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 94088 |
| OMIM Id: |
220150
242050 307830 612076 |
| ICD-10: |
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| 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: |
Genetic renal tubular disease
-Rare genetic disease Rare renal tubular disease -Rare renal disease |
Symptom Information:
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(HPO:0000791) | Uric acid nephrolithiasis | 4 / 7739 | ||||
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(HPO:0001919) | Acute kidney injury | 21 / 7739 | ||||
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(HPO:0012611) | Increased urinary urate | 2 / 7739 | ||||
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(HPO:0003537) | Hypouricemia | 13 / 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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