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.
 

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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 9 free, full-text research articles on human participants. First 3 results:

Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing.
 

Author(s): Kenji Koikawa, Yosuke Okada, Hiroko Mori, Mayuko Kawaguchi, Shinya Uchino, Yoshiya Tanaka

Journal: Intern. Med.. 2018 Mar;57(6):841-844.

 

We herein report the case of a young woman who was diagnosed with primary hyperparathyroidism and in whom genetic testing confirmed a diagnosis of hyperparathyroidism-jaw tumor syndrome. Familial hyperparathyroidism was suspected based on the patient's young age at the onset of the ...

Last Updated: 31 Dec 1969

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Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
 

Author(s): Vito Guarnieri, Raewyn M Seaberg, Catherine Kelly, M Jean Davidson, Simon Raphael, Andrew Y Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N Hendy, David E C Cole

Journal:

 

Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter.

Last Updated: 31 Dec 1969

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Hyperparathyroidism-jaw tumor syndrome: Results of operative management.
 

Author(s): Amit Mehta, Dhaval Patel, Avi Rosenberg, Myriem Boufraqech, Ryan J Ellis, Naris Nilubol, Martha M Quezado, Stephen J Marx, William F Simonds, Electron Kebebew

Journal: Surgery. 2014 Dec;156(6):1315-24; discussion 1324-5.

 

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT.

Last Updated: 31 Dec 1969

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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