Hereditary xanthinuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Classical xanthinuria Xanthine stone disease Xanthic urolithiasis |
| Number of Symptoms | 7 |
| OrphanetNr: | 3467 |
| OMIM Id: |
278300
603592 |
| ICD-10: |
E79.8 |
| 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: | 150 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of purine metabolism
-Rare genetic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
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(HPO:0012330) | Pyelonephritis | 7 / 7739 | ||||
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(HPO:0000804) | Xanthine nephrolithiasis | 4 / 7739 | ||||
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(HPO:0003534) | Reduced xanthine dehydrogenase activity | 2 / 7739 | ||||
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(HPO:0010934) | Xanthinuria | 4 / 7739 | ||||
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(HPO:0003198) | Myopathy | 151 / 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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