Hyperparathyroidism-jaw tumor syndrome

Common Name(s)

Hyperparathyroidism-jaw tumor syndrome

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.
 

Advocacy and Support Organizations

 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperparathyroidism-jaw tumor syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperparathyroidism-jaw tumor syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Aromatase inhibitor treatment of menorrhagia and subsequent pregnancy in a patient with familial hyperparathyroidism-jaw tumor syndrome.
 

Author(s): Erin F Wolff, Micah J Hill, William F Simonds, James H Segars

Journal: Fertil. Steril.. 2012 Dec;98(6):1616-9.

 

To describe the clinical management of menorrhagia in a woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT).

Last Updated: 3 Dec 2012

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Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome.
 

Author(s): Leelamma M Panicker, Jian-Hua Zhang, Pradeep K Dagur, Matthew J Gastinger, William F Simonds

Journal:

 

The hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a familial cancer syndrome that can result from germline inactivation of HRPT2/CDC73, a putative tumor suppressor gene that encodes parafibromin, a component of the transcriptional regulatory PAF1 complex with homology to the ...

Last Updated: 20 May 2010

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Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function.
 

Author(s): Ling Lin, Meggan Czapiga, Lylia Nini, Jian-Hua Zhang, William F Simonds

Journal: Mol. Cancer Res.. 2007 Feb;5(2):183-93.

 

Parafibromin is a tumor suppressor protein encoded by HRPT2, a gene recently implicated in the hereditary hyperparathyroidism-jaw tumor syndrome, parathyroid cancer, and a subset of kindreds with familial isolated hyperparathyroidism. Human parafibromin binds to RNA polymerase II ...

Last Updated: 22 Feb 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperparathyroidism-jaw tumor syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.