Dominant hypophosphatemia with nephrolithiasis or osteoporosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 9 |
| OrphanetNr: | 244305 |
| OMIM Id: |
612286
612287 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic renal tubular disease
-Rare genetic disease Primary bone dysplasia with defective bone mineralization -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare renal tubular disease -Rare renal disease |
Symptom Information:
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(HPO:0000787) | Nephrolithiasis | 78 / 7739 | ||||
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(HPO:0003109) | Hyperphosphaturia | 18 / 7739 | ||||
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(HPO:0002150) | Hypercalciuria | 45 / 7739 | ||||
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(HPO:0000117) | Renal phosphate wasting | 14 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0002659) | Increased susceptibility to fractures | 110 / 7739 | ||||
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(HPO:0002148) | Hypophosphatemia | 43 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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