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Hyperparathyroidism-jaw tumor syndrome

Other Names for this Disease
  • Familial primary hyperparathyroidism with multiple ossifying jaw fibromas
  • Hereditary hyperparathyroidism-jaw tumor syndrome
  • HPT-JT
  • HRPT2
  • Hyperparathyroidism 2
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Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion.[1]
Last updated: 11/29/2011


  1. Hyperparathyroidism-jaw tumor syndrome. Genetics Home Reference. July 2010; Accessed 11/29/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hyperparathyroidism-jaw tumor syndrome. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperparathyroidism-jaw tumor syndrome. Click on the link to view a sample search on this topic.