Parathyroid carcinoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PRTC |
| Number of Symptoms | 5 |
| OrphanetNr: | 143 |
| OMIM Id: |
608266
|
| ICD-10: |
C75.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
255037004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.28 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hyperparathyroidism
-Rare endocrine disease Rare parathyroid tumor -Rare endocrine disease -Rare oncologic disease |
Symptom Information:
|
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(HPO:0006780) | Parathyroid carcinoma | 2 / 7739 | ||||
|
|
(HPO:0000843) | Hyperparathyroidism | 17 / 7739 | ||||
|
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(HPO:0003072) | Hypercalcemia | 36 / 7739 | ||||
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(HPO:0001428) | Somatic mutation | 100 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Parathyroid carcinomas are an uncommon and often devastating cause of primary hyperparathyroidism (145000) (Wang and Gaz, 1985; Shane, 2001). Shane (2001) reviewed the clinical features of parathyroid carcinoma and provided a summary of features that might ... |
| Molecular genetics OMIM |
Shattuck et al. (2003) identified somatic and germline mutations in the CDC73 gene (607393) in patients who had no known family history of primary hyperparathyroidism (HPRT1, 145000) or the hyperparathyroidism-jaw tumor syndrome (HPRT2, HPT-JT; 145001), also caused by ... |