Familial hypocalciuric hypercalcemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FBH FHH FBHH Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia |
| Number of Symptoms | 7 |
| OrphanetNr: | 405 |
| OMIM Id: |
145980
145981 600740 |
| ICD-10: |
E83.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
237885008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with defective bone mineralization
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic parathyroid disease and phosphocalcic metabolism disorder -Rare genetic disease Rare parathyroid diseases and phosphocalcic metabolism disorder -Rare endocrine disease Secondary interstitial lung disease specific to childhood associated with a metabolic disease -Rare respiratory disease |
Symptom Information:
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(HPO:0000787) | Nephrolithiasis | 78 / 7739 | ||||
|
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(HPO:0003127) | Hypocalciuria | 7 / 7739 | ||||
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(HPO:0000843) | Hyperparathyroidism | 17 / 7739 | ||||
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(HPO:0001733) | Pancreatitis | 46 / 7739 | ||||
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(HPO:0002918) | Hypermagnesemia | 4 / 7739 | ||||
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(HPO:0003072) | Hypercalcemia | 36 / 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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