Familial parathyroid adenoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FIHP PARATHYROID ADENOMA, FAMILIAL, INCLUDED HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY HRPT1 |
| Number of Symptoms | 4 |
| OrphanetNr: | 99877 |
| OMIM Id: |
145000
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| ICD-10: |
E21.0 |
| 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: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial primary hyperparathyroidism
-Rare endocrine disease -Rare genetic disease -Rare oncologic disease Genetic endocrine tumor -Rare genetic disease Rare genetic parathyroid disease and phosphocalcic metabolism disorder -Rare genetic disease Rare parathyroid tumor -Rare endocrine disease -Rare oncologic disease |
Symptom Information:
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(HPO:0008200) | Primary hyperparathyroidism | 5 / 7739 | ||||
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(HPO:0003072) | Hypercalcemia | 36 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Primary chief cell hyperplasia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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