National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hyperparathyroidism-jaw tumor syndrome


Other Names:
HPT-JT; Hyperparathyroidism 2; HRPT2; HPT-JT; Hyperparathyroidism 2; HRPT2; Familial primary hyperparathyroidism with multiple ossifying jaw fibromas; Hereditary hyperparathyroidism-jaw tumor syndrome See More
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Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an inherited condition that causes overactivity of the parathyroid glands (hyperparathyroidism). These glands regulate the body's use of calcium, so overactivity can lead to high calcium levels in the blood (hypercalcemia). The syndrome typically begins in late adolescence or early adulthood. The hyperparathyroidism in people with HPT-JT is usually caused by a benign tumor in the parathyroid gland called a parathyroid adenoma. In some people with HPT-JT, it is caused by a cancerous (malignant) tumor called a parathyroid carcinoma.[1][2] Signs and symptoms of hyperparathyroidism may include kidney stones, reduced bone mass, fatigue, muscle weakness, bone or joint pain, and constipation.[1]

Some people with HPT-JT also develop a benign tumor in the jaw called an ossifying fibroma. These tumors can grow quickly if not treated. Other features of HPT-JT may include kidney growths such as cysts, hamartomas, or rarely, Wilms tumor. Women with HPT-JT may develop benign or malignant tumors in the uterus.[1][2]

HPT-JT is caused by mutations in the CDC73 gene and inheritance is autosomal dominant.[1][2] The diagnosis is based on the presence of signs and symptoms (identified with blood tests for hyperparathyroidism and imaging studies for tumors) and genetic testing. Treatment may involve surgery to remove a parathyroid gland with a tumor, and to remove a jaw tumor. People who are unable to have tumors removed may need a medication called cinacalcet hydrochloride to treat severe hypercalcemia.[1]
Last updated: 2/13/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Parathyroid adenoma 0002897
Primary hyperparathyroidism 0008200
80%-99% of people have these symptoms
Elevated circulating parathyroid hormone level 0003165
Hypercalciuria
Elevated urine calcium levels
0002150
Hypophosphatemia
Low blood phosphate level
0002148
30%-79% of people have these symptoms
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Fatigue
Tired
Tiredness
[ more ] 		0012378
Fibroma 0010614
Infantile hypercalcemia 0008250
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Nephrolithiasis
Kidney stones
0000787
Osteoporosis 0000939
Polydipsia
Extreme thirst
0001959
Shortened QT interval 0012232
Uterine leiomyoma 0000131
5%-29% of people have these symptoms
Bone pain 0002653
Chondrocalcinosis
Calcium deposits in joints
0000934
Constipation 0002019
Episodic abdominal pain 0002574
Headache
Headaches
0002315
Mandibular pain
Lower jaw pain
0200025
Muscle weakness
Muscular weakness
0001324
Nausea and vomiting 0002017
Pancreatitis
Pancreatic inflammation
0001733
Peptic ulcer
Sore in the lining of gastrointestinal tract
0004398
Renal cyst
Kidney cyst
0000107
Renal hamartoma 0008696
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
1%-4% of people have these symptoms
Lipoma
Fatty lump
Noncancerous fatty lump
[ more ] 		0012032
Nephroblastoma 0002667
Pancreatic adenocarcinoma 0006725
Testicular neoplasm
Testicular tumor
0010788
Thyroid carcinoma 0002890
Percent of people who have these symptoms is not available through HPO
Abnormality of the head
Abnormal head
Head abnormality
[ more ] 		0000234
Autosomal dominant inheritance 0000006
Hamartoma 0010566
Hurthle cell thyroid adenoma 0006781
Hypercalcemia
High blood calcium levels
Increased calcium in blood
[ more ] 		0003072
Hyperparathyroidism
Elevated blood parathyroid hormone level
0000843
Papillary renal cell carcinoma 0006766
Parathyroid carcinoma 0006780
Polycystic kidney dysplasia 0000113
Recurrent pancreatitis
Recurring pancreas inflammation
0100027
Renal cortical adenoma 0006735
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Hyperparathyroidism-jaw tumor syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Jackson MA, Rich TA, Hu MI, Perrier ND, Waguespack SG. CDC73-Related Disorders. GeneReviews. January 15, 2015; https://www.ncbi.nlm.nih.gov/books/NBK3789/.
  2. Hyperparathyroidism-jaw tumor syndrome. Genetics Home Reference (GHR). July, 2010; http://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome.