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Genetics Home Reference: your guide to understanding genetic conditions
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Hyperparathyroidism-jaw tumor syndrome

Reviewed July 2010

What is hyperparathyroidism-jaw tumor syndrome?

Hyperparathyroidism-jaw tumor syndrome is a condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.

In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused by tumors that form in the parathyroid glands. Typically only one of the four parathyroid glands is affected, but in some people, tumors are found in more than one gland. The tumors are usually noncancerous (benign), in which case they are called adenomas. Approximately 15 percent of people with hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called parathyroid carcinoma. People with hyperparathyroidism-jaw tumor syndrome may also have a type of benign tumor called a fibroma in the jaw. Even though jaw tumors are specified in the name of this condition, it is estimated that only 25 to 50 percent of affected individuals have this symptom.

Other tumors, both benign and cancerous, are often seen in hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur in about 75 percent of women with this condition. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign kidney cysts are the most common kidney feature, but a rare tumor called Wilms tumor and other types of kidney tumor have also been found.

How common is hyperparathyroidism-jaw tumor syndrome?

The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. Approximately 200 cases have been reported in the medical literature.

What genes are related to hyperparathyroidism-jaw tumor syndrome?

Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation), either promoting or inhibiting cell proliferation depending on signals within the cell.

CDC73 gene mutations cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these mutations result in a parafibromin protein that is abnormally short and nonfunctional. Without functional parafibromin, cell proliferation is not properly regulated. Uncontrolled cell division can lead to the formation of tumors. It is unknown why only certain tissues seem to be affected by changes in parafibromin.

Some people with hyperparathyroidism-jaw tumor syndrome do not have identified mutations in the CDC73 gene. The cause of the condition in these individuals is unknown.

Related Gene(s)

Changes in this gene are associated with hyperparathyroidism-jaw tumor syndrome.

  • CDC73

How do people inherit hyperparathyroidism-jaw tumor syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of hyperparathyroidism-jaw tumor syndrome?

These resources address the diagnosis or management of hyperparathyroidism-jaw tumor syndrome and may include treatment providers.

  • Gene Review: CDC73-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK3789)
  • Genetic Testing Registry: Hyperparathyroidism 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1704981)
  • MedlinePlus Encyclopedia: Hyperparathyroidism (http://www.nlm.nih.gov/medlineplus/ency/article/001215.htm)

You might also find information on the diagnosis or management of hyperparathyroidism-jaw tumor syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about hyperparathyroidism-jaw tumor syndrome?

You may find the following resources about hyperparathyroidism-jaw tumor syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for hyperparathyroidism-jaw tumor syndrome?

  • familial cystic parathyroid adenomatosis
  • familial primary hyperparathyroidism with multiple ossifying jaw fibromas
  • hereditary hyperparathyroidism-jaw tumor syndrome
  • HPT-JT
  • hyperparathyroidism 2

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about hyperparathyroidism-jaw tumor syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding hyperparathyroidism-jaw tumor syndrome?

autosomal ; autosomal dominant ; benign ; calcium ; carcinoma ; cell ; cell division ; cell proliferation ; cysts ; familial ; fibroma ; gene ; gene transcription ; hereditary ; hormone ; hyperparathyroidism ; hypertension ; hyperthyroidism ; inherited ; kidney ; kidney stones ; osteoporosis ; parathyroid ; prevalence ; proliferation ; protein ; symptom ; syndrome ; transcription ; tumor ; Wilms tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceição Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. (http://www.ncbi.nlm.nih.gov/pubmed/16487440?dopt=Abstract)
  • Iacobone M, Masi G, Barzon L, Porzionato A, Macchi V, Ciarleglio FA, Palù G, De Caro R, Viel G, Favia G. Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. Langenbecks Arch Surg. 2009 Sep;394(5):817-25. doi: 10.1007/s00423-009-0511-y. Epub 2009 Jun 16. (http://www.ncbi.nlm.nih.gov/pubmed/19529956?dopt=Abstract)
  • Masi G, Barzon L, Iacobone M, Viel G, Porzionato A, Macchi V, De Caro R, Favia G, Palù G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. 2008 Dec;15(4):1115-26. doi: 10.1677/ERC-08-0066. Epub 2008 Aug 28. (http://www.ncbi.nlm.nih.gov/pubmed/18755853?dopt=Abstract)
  • Newey PJ, Bowl MR, Cranston T, Thakker RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188. (http://www.ncbi.nlm.nih.gov/pubmed/20052758?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2010
Published: October 20, 2014