Encyclopedia of Signaling Molecules

2018 Edition
| Editors: Sangdun Choi


  • Deborah J. Marsh
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-67199-4_101660


Historical Background

Knowledge of mammalian CDC73 has essentially been driven by focused efforts to map, and then characterize, a gene responsible for familial primary hyperparathyroidism. Primary hyperparathyroidism (HPT) is estimated to affect three in every 1000 people. Primary HPT refers to hypersecretion of parathyroid hormone (PTH) by chief cells in the parathyroid in a setting of disrupted calcium homeostasis. Sporadic HPT is caused by the presence of a single parathyroid adenoma in the majority of patients (80–85%) or hyperplasia that affects more than one gland in 15–20% of patients. Sporadic parathyroid carcinoma is an exceedingly rare tumor, responsible for <1% of cases of primary HPT. Parathyroid abnormalities can also present as components of the familial syndrome Hyperparathyroidism Jaw Tumor syndrome (HPT-JT). Abnormalities that are part of the HPT-JT phenotype include parathyroid carcinoma (10–15%), fibro-osseous tumors...

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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Hormones and Cancer Division, Kolling Institute of Medical ResearchUniversity of Sydney and Royal North Shore HospitalSydneyAustralia