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Disease Profile

Hyperparathyroidism-jaw tumor syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

E21.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HPT-JT; Hyperparathyroidism 2; HRPT2;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases;

Summary

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]

Symptoms

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.

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

Diagnosis

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.

Learn more

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.

References

  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; https://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome.