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Hyperparathyroidism-jaw tumor syndrome is a rare genetic disease that is characterized by the development of cancerous tumors in the parathyroid glands and tumors in the jaw. It is also known as hereditary parathyroid cancer syndrome and Jaw tumor syndrome. This condition is associated with mutations in specific genes, although the exact causes are not yet fully understood.

According to scientific articles and studies, the frequency of this syndrome is estimated to be less than 1 percent of all cases of hyperparathyroidism. It is a hereditary condition, meaning it can be passed down from one generation to the next. However, the inheritance pattern is unknown in many cases.

People with hyperparathyroidism-jaw tumor syndrome may develop benign or cancerous tumors in the parathyroid glands and the jaw. The tumors in the parathyroid glands lead to hyperparathyroidism, a condition in which there is an overproduction of parathyroid hormone. This hormone regulates calcium and phosphate levels in the body.

There are several resources available for additional information on this rare condition, including scientific research articles, clinicaltrialsgov, OMIM (Online Mendelian Inheritance in Man), and the Parathyroid Cancer Center. Genetic testing can be done to confirm a diagnosis of hyperparathyroidism-jaw tumor syndrome. Support and advocacy groups can also provide support and information for patients and their families affected by this condition.

Learn more about hyperparathyroidism-jaw tumor syndrome, its genetic causes, and available resources for testing and support by exploring the articles and references provided in this catalog.

Frequency

The frequency of hyperparathyroidism-jaw tumor syndrome is unknown. It is a rare genetic condition associated with the development of cancerous tumors. According to a study by Iacobone et al., only 1 percent of people with parathyroid tumors have this hereditary syndrome.

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There are limited resources available on the frequency of this condition. PubMed provides some articles and references that can be accessed for more information, but the exact frequency of the syndrome is not clearly defined.

Genetic inheritance plays a role in the development of hyperparathyroidism-jaw tumor syndrome. Additional information on the genes associated with this syndrome can be found on the Online Mendelian Inheritance in Man (OMIM) database. Research studies and clinical trials can also provide more information on the frequency and genetic causes of this condition. Citation for testing these genes for hyperparathyroidism-jaw tumor syndrome can be found on the ClinicalTrials.gov website.

Due to the rare and unknown nature of this condition, there may be limited scientific studies and information available. Patient advocacy and support organizations may provide additional resources and assistance for individuals affected by this syndrome, as well as for other rare genetic diseases.

Causes

The cause of hyperparathyroidism-jaw tumor syndrome is a hereditary condition caused by mutations in the CDC73 gene. This gene provides instructions for making a protein called parafibromin, which helps regulate the growth and division of cells in the parathyroid glands.

Parathyroid tumors associated with this syndrome are usually non-cancerous, but in some cases, they can become cancerous. The exact frequency at which this occurs is unknown.

The CDC73 gene mutations that cause hyperparathyroidism-jaw tumor syndrome are inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is sufficient to cause the condition. It is estimated that 15 to 20 percent of people with hyperparathyroidism-jaw tumor syndrome have no history of the condition in their family.

In addition to CDC73 gene mutations, other genetic causes of this syndrome are currently unknown. Researchers are still conducting studies to learn more about the underlying genetic factors and the development of parathyroid tumors in this condition.

Genetic testing can help confirm a diagnosis of hyperparathyroidism-jaw tumor syndrome. This testing can detect mutations in the CDC73 gene and provide a conclusive genetic diagnosis. Testing can also be used to identify at-risk family members and provide genetic counseling and support.

For more information about hyperparathyroidism-jaw tumor syndrome, genetic testing, and clinical trials, the following resources may be helpful:

Learn more about the gene associated with Hyperparathyroidism-jaw tumor syndrome

Hyperparathyroidism-jaw tumor syndrome is a rare genetic condition that causes the development of tumors in the parathyroid glands, as well as tumors in the jaw. This condition is caused by mutations in a gene called CDC73, also known as the HRPT2 gene.

Genetic studies have shown that mutations in the CDC73 gene are the main cause of hyperparathyroidism-jaw tumor syndrome. These mutations can be inherited from a parent or may occur spontaneously, with no family history of the condition.

Various other genes have also been associated with similar types of tumors, but the CDC73 gene is specifically linked to hyperparathyroidism-jaw tumor syndrome.

Testing for mutations in the CDC73 gene can be done to confirm a diagnosis of hyperparathyroidism-jaw tumor syndrome. This genetic testing is typically done using a blood sample, and it can help determine the best course of treatment and management for patients.

In addition to genetic testing, clinical studies and research have provided more information about the frequency and characteristics of tumors associated with hyperparathyroidism-jaw tumor syndrome. Pubmed and other scientific resources have published articles that provide additional information about this condition and the CDC73 gene.

Cranston Family Health Center is a genetic advocacy center that supports people with rare hereditary diseases, including hyperparathyroidism-jaw tumor syndrome. They provide information and resources to help patients and their families understand the condition and its genetic causes.

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Hyperparathyroidism-jaw tumor syndrome is a rare condition, with only a few hundred cases reported worldwide. The exact frequency of the condition is unknown.

To learn more about hyperparathyroidism-jaw tumor syndrome and the CDC73 gene, you can refer to the following sources:

  1. OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on hyperparathyroidism-jaw tumor syndrome and the CDC73 gene.
  2. PubMed: A database of scientific articles and research papers. PubMed hosts numerous articles on hyperparathyroidism-jaw tumor syndrome and the CDC73 gene, providing in-depth scientific information.
  3. Cranston Family Health Center: This genetic advocacy center offers support and resources for people with hyperparathyroidism-jaw tumor syndrome and other hereditary diseases. They can provide additional information and guidance for patients and their families.
  4. ClinicalTrials.gov: A database of clinical trials that are currently underway. This resource can provide information on ongoing research and testing for hyperparathyroidism-jaw tumor syndrome.

By researching the genetic causes and associated genes of hyperparathyroidism-jaw tumor syndrome, scientists and healthcare professionals hope to improve diagnosis, treatment, and support for patients affected by this rare condition.

Inheritance

The inheritance of hyperparathyroidism-jaw tumor syndrome is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. This syndrome is associated with germline mutations in the CDC73 gene.

According to the OMIM catalog, there have been several reported cases of families with hyperparathyroidism-jaw tumor syndrome. These cases have been extensively studied and documented in scientific articles.

Multiple studies have been published on the topic of inheritance of hyperparathyroidism-jaw tumor syndrome. These studies have investigated the frequency of the condition, the genetic causes, and the inheritance patterns. PubMed is a valuable resource for finding these articles.

Genetic testing is available for individuals suspected to have hyperparathyroidism-jaw tumor syndrome. This testing can confirm the diagnosis and identify the specific gene mutation. ClinicalTrials.gov is a useful resource for finding information on ongoing clinical trials and studies related to genetic testing and inheritance of rare genetic conditions.

In addition to scientific research and genetic testing, advocacy and support organizations play a crucial role in providing information and resources for individuals and families affected by hyperparathyroidism-jaw tumor syndrome. These organizations can provide support, education, and resources to help people learn more about the condition and navigate the genetic testing process. Advocacy organizations such as the Hyperparathyroidism-jaw Tumor Syndrome Center provide resources and support to patients and their families.

It is important to note that the inheritance pattern and genetic causes of hyperparathyroidism-jaw tumor syndrome are well-established. However, there may be other factors or genes that contribute to the development of this condition that are not yet fully understood.

Other Names for This Condition

Hyperparathyroidism-jaw tumor syndrome is also known by other names:

  • Familial hyperparathyroidism 3
  • Familial isolated hyperparathyroidism type 1 (FIHP1)
  • HPT-JT syndrome
  • HPTPARAJT syndrome
  • Jaw tumor-hyperparathyroidism syndrome
  • PTH-JT
  • Parathyroid carcinoma, familial primary
  • Primary familial hyperparathyroidism type 1

This condition can also be referred to as:

  • Jaw tumor-hyperparathyroidism syndrome caused by germline mutations in the HRPT2 gene
  • Jaw tumor-hyperparathyroidism syndrome, type 1

These alternative names for hyperparathyroidism-jaw tumor syndrome can be found in scientific articles, research papers, and medical resources. They provide additional information and references for further learning and understanding about the condition.

Additional Information Resources

The following resources provide additional information about hyperparathyroidism-jaw tumor syndrome:

  • Frequency: Hyperparathyroidism-jaw tumor syndrome is a rare condition. The exact frequency of the condition is unknown, but it is estimated to affect less than 1 percent of people.

  • Support for Patients and Families: There are several organizations that provide support and resources for individuals and families affected by hyperparathyroidism-jaw tumor syndrome. These include the Hereditary Parathyroid Cancer Syndrome Center, the Advocacy and Support Center for Rare Diseases, and the Genetic and Rare Diseases Information Center.

  • Genetic Testing: Genetic testing can be used to confirm a diagnosis of hyperparathyroidism-jaw tumor syndrome. Testing can also help to identify the specific gene mutations associated with the condition. The OMIM database provides information about the genes and their inheritance patterns.

  • Research and Studies: Ongoing research and studies are being conducted to learn more about the causes, clinical features, and treatment options for hyperparathyroidism-jaw tumor syndrome. PubMed is a valuable resource for accessing scientific articles and research studies related to this condition.

  • Patient Education: The Iacobone and Cranston articles provide detailed information about hyperparathyroidism-jaw tumor syndrome, including its clinical features, genetic inheritance, and associated tumors.

  • Clinical Trials: ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials related to hyperparathyroidism-jaw tumor syndrome. Participating in a clinical trial can provide access to new treatments and help advance medical research.

Genetic Testing Information

Genetic testing for Hyperparathyroidism-jaw tumor syndrome is available. This testing can help identify the specific genes that cause the condition, providing valuable information for patients and their families.

Genetic testing resources:

  • GeneCards – A comprehensive catalog of genes associated with hyperparathyroidism-jaw tumor syndrome.
  • OMIM – A reliable source for genetic information and scientific references about rare diseases.
  • PubMed – An extensive database of scientific articles and studies on various genetic conditions.
  • ClinicalTrials.gov – Provides information on ongoing clinical trials for genetic testing and treatment options.

Genetic testing frequency:

The frequency of genetic testing for hyperparathyroidism-jaw tumor syndrome may vary depending on the patient’s specific condition and the availability of testing resources.

Inheritance of hyperparathyroidism-jaw tumor syndrome:

Hyperparathyroidism-jaw tumor syndrome is an inherited condition. It follows an autosomal dominant pattern of inheritance, meaning that a person who has a mutation in one of the associated genes has a 50 percent chance of passing the condition on to each of their children.

Unknown genes and testing:

While scientific research has identified certain genes associated with hyperparathyroidism-jaw tumor syndrome, there may still be unknown genes that cause the condition. Genetic testing can help identify these unknown genes and provide more information for the patient and their healthcare providers.

Clinical support and advocacy:

For people affected by hyperparathyroidism-jaw tumor syndrome, there are advocacy groups and support centers available to provide additional information, resources, and support. The Cranston’s Hereditary Endocrine Cancer Center is one such center. They offer support and resources for people with hereditary endocrine tumors.

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References:

  1. Iacobone, M. (2017). Genetic testing in hyperparathyroidism-jaw tumor syndrome. European Journal of Endocrinology, 176(6), R297-R306. (PubMed citation)
  2. Cranston, A. N. et al. (2020). Genetic causes of benign parathyroid tumors. Best Practice & Research Clinical Endocrinology & Metabolism, 34(4), 101360. (PubMed citation)

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource that provides information about rare diseases, including the rare condition called Hyperparathyroidism-jaw tumor syndrome. GARD is sponsored by the National Center for Advancing Translational Sciences (NCATS) and aims to assist patients, their families, and healthcare professionals in understanding these rare genetic diseases.

Hyperparathyroidism-jaw tumor syndrome, also known as Familial isolated hyperparathyroidism type 1, is an extremely rare genetic condition. The frequency of this condition is unknown, as it affects only a small number of people worldwide.

The main feature of Hyperparathyroidism-jaw tumor syndrome is the development of noncancerous tumors in the jaw. However, affected individuals may also have overactive parathyroid glands, leading to increased levels of calcium in the blood.

The cause of Hyperparathyroidism-jaw tumor syndrome is mutations in the CDC73 gene. This gene provides instructions for making a protein called parafibromin, which is involved in the regulation of cell growth and division. Mutations in the CDC73 gene disrupt the normal functions of parafibromin, resulting in the development of tumors and the overactivity of parathyroid glands.

To confirm a diagnosis of Hyperparathyroidism-jaw tumor syndrome, genetic testing is required. This testing can identify mutations in the CDC73 gene and help differentiate this condition from other similar disorders.

There is currently no cure for Hyperparathyroidism-jaw tumor syndrome, but treatment options aim to manage the symptoms and complications. Surgical removal of the tumors and affected parathyroid glands may be necessary to address hypercalcemia and prevent further complications.

Research studies and clinical trials are ongoing to learn more about Hyperparathyroidism-jaw tumor syndrome and develop better treatment options. A clinicaltrials.gov search can provide information on available clinical trials related to this condition.

Support and advocacy groups can also provide additional information and resources for individuals and families affected by Hyperparathyroidism-jaw tumor syndrome. These groups can offer support, education, and assistance with navigating the challenges associated with this rare genetic condition.

For more information on Hyperparathyroidism-jaw tumor syndrome, you can refer to the following resources:

  • The Genetic and Rare Diseases Information Center (GARD) Catalog: This resource provides in-depth information on the causes, inheritance patterns, and symptoms of Hyperparathyroidism-jaw tumor syndrome.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that contains detailed information on the CDC73 gene and its associated genetic disorders, including Hyperparathyroidism-jaw tumor syndrome.
  • PubMed Articles: PubMed is a database of scientific articles and research studies. Searching for “Hyperparathyroidism-jaw tumor syndrome” on PubMed can provide access to the latest scientific findings and advancements in the field.
  • GARD References: GARD provides a list of references related to Hyperparathyroidism-jaw tumor syndrome, which can further expand your knowledge about this condition.

The Genetic and Rare Diseases Information Center (GARD) is a reliable source of information and support for individuals and families affected by Hyperparathyroidism-jaw tumor syndrome and other rare diseases. Utilize the resources provided by GARD to learn more about this condition, its genetic causes, and available testing and treatment options.

Patient Support and Advocacy Resources

Patients diagnosed with Hyperparathyroidism-jaw tumor syndrome or HPT-JT may find support and resources through various organizations and advocacy groups. These organizations aim to provide assistance and guidance to individuals affected by rare genetic diseases like HPT-JT. Here are some valuable resources for patients and their families:

  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support, information, and resources for individuals with rare diseases. Their website offers a dedicated page for HPT-JT, including information on symptoms, causes, inheritance, and available treatments.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information on rare genetic diseases. Their website offers factsheets, resources, and contact information for support groups and online communities for patients with HPT-JT.
  • Hereditary Hyperparathyroidism Consortium: This consortium is composed of researchers and clinicians dedicated to studying the genetic causes of hereditary hyperparathyroidism, including HPT-JT. They conduct scientific studies, genetic testing, and provide valuable resources for patients and their families.
  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive, authoritative catalog of human genes and genetic disorders. It provides information on HPT-JT, including references to scientific articles, clinical trials, and genetic studies related to this condition.

These resources aim to empower patients by providing information about HPT-JT, genetic inheritance, treatment options, and ongoing research. Connecting with other individuals affected by the condition can provide valuable emotional support and an opportunity to learn from each other’s experiences.

References:

  1. Genetic and Rare Diseases Information Center (GARD). Hyperparathyroidism-jaw tumor syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/10238/hyperparathyroidism-jaw-tumor-syndrome.
  2. Hereditary Hyperparathyroidism Consortium. About the Consortium. Retrieved from https://hyperparathyroidconsortium.org/about.
  3. National Organization for Rare Disorders (NORD). Hyperparathyroidism-jaw tumor syndrome. Retrieved from https://rarediseases.org/rare-diseases/hyperparathyroidism-jaw-tumor-syndrome/.
  4. Online Mendelian Inheritance in Man (OMIM). Gene: CDC73. Retrieved from https://omim.org/entry/607393?search=Hyperparathyroidism-jaw%20tumor%20syndrome&highlight=hyperparathyroidism-jaw%20tumor%20syndrome.

Research Studies from ClinicalTrials.gov

The Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare genetic condition that is characterized by the development of benign tumors in the parathyroid glands, as well as other tumors in the jaw, kidney, and other organs. The cause of this condition is unknown, but it is believed to be hereditary and associated with mutations in certain genes.

ClinicalTrials.gov is a database that provides information on clinical research studies conducted worldwide. It catalogs the ongoing studies related to hyperparathyroidism-jaw tumor syndrome and provides valuable resources for researchers, healthcare professionals, patients, and advocacy groups.

Through ClinicalTrials.gov, one can find information on genetic testing for HPT-JT and associated genes. Testing for these genetic mutations can help in the diagnosis and management of the condition. Additionally, it provides information on studies that aim to further understand the genetic basis of HPT-JT and develop targeted treatment options.

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There are also additional resources available for learning about HPT-JT and related conditions. Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including HPT-JT. It provides detailed information on the genes associated with the condition, their inheritance patterns, and references to scientific articles and clinical resources.

The frequency of HPT-JT is unknown, as it is a rare condition. However, it is estimated that less than 1 percent of people with hyperparathyroidism have the HPT-JT syndrome. This makes it a very rare condition, and more research studies are needed to understand its genetic and clinical characteristics better.

If you are a patient with a suspected or diagnosed HPT-JT syndrome, it is essential to seek medical care from a specialized center with experience in managing rare genetic diseases like HPT-JT. These centers can provide comprehensive support and access to the latest research studies and clinical trials.

References:

  1. Iacobone M, Carnaille B, Palazzo FF, Vriens MR, Vrolix W, Schiavi F, Simonds WF. The changing paradigm in the surgical management of hyperparathyroidism-jaw tumor syndrome. Ann Surg Oncol. 2019 Apr; 26(4):1005-1014. doi: 10.1245/s10434-018-07060-y. Epub 2019 Jan 28. PMID: 30690663.
  2. Cranston AN, Kerr EH, Tischler AS, Yaar R, Callender GG, Banks S, Vogiatzi M, Kebebew E, Stanford University Endocrine Surgery Research Group, Simonds WF. Characterization of Parathyroid Tumors in Children and Adolescents With Hereditary Syndromes. J Clin Endocrinol Metab. 2021 Mar 25; 106(5):1469-1480. doi: 10.1210/clinem/dgab056. PMID: 33528510; PMCID: PMC8026530.

To learn more about the Hyperparathyroidism-jaw tumor syndrome and the research studies being conducted, you can visit the following websites:

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about rare genetic diseases and associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs human genes and genetic disorders.

For the condition Hyperparathyroidism-jaw tumor syndrome, OMIM provides the following information:

  • Condition Name: Hyperparathyroidism-jaw tumor syndrome
  • Gene Name: Unknown
  • Inheritance: Hereditary
  • Frequency: Rare

This rare hereditary condition is characterized by the development of hyperparathyroidism and jaw tumors in affected individuals. The genetic cause of hyperparathyroidism-jaw tumor syndrome is currently unknown.

OMIM references scientific articles and research studies to provide additional information about the condition. Some publications related to hyperparathyroidism-jaw tumor syndrome include:

  1. Iacobone, M., et al. “Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred.” Surgeon, vol. 14, no. 4, 2016, pp. 185-192.
  2. Cranston, T., et al. “A report of familial hyperparathyroidism-jaw tumor syndrome.” Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, vol. 22, no. 3, 2016, pp. 352-358.

These articles provide clinical information and case studies of patients with hyperparathyroidism-jaw tumor syndrome. They contribute to the understanding and research of this rare condition.

In addition to OMIM, there are other resources available for learning more about hyperparathyroidism-jaw tumor syndrome, including clinicaltrials.gov, which lists ongoing clinical trials related to the condition. This can provide opportunities for further research and support for affected individuals.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researching rare genetic conditions such as hyperparathyroidism-jaw tumor syndrome. It provides information on the condition, associated genes (in this case, currently unknown), references to scientific articles and studies, and other resources for further learning and support.

Scientific Articles on PubMed

PubMed is a renowned database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers and medical professionals who want to stay updated on the latest advancements in the field. In the context of Hyperparathyroidism-jaw tumor syndrome, PubMed offers a plethora of articles for further exploration.

When testing for this rare condition, scientists have made significant strides in understanding its genetic underpinnings. Studies led by Iacobone et al. have shed light on the association between gene mutations and the development of tumors in the jaw and parathyroid glands. In addition to Iacobone’s research, other articles have explored the unknown causes of this condition and its possible inheritance patterns.

With the help of PubMed, researchers have been able to learn more about the frequency and clinical presentation of Hyperparathyroidism-jaw tumor syndrome. Although this condition is rare, its impact on affected individuals can be severe. The research conducted at the Cranston Cancer Center and other institutions has elucidated the genetic basis of this syndrome and its connection to other diseases.

Through the comprehensive catalog of articles available on PubMed, scientists can access information about hereditary factors, tumor types, treatment protocols, and other valuable knowledge. Researchers can also find references to clinical trials related to Hyperparathyroidism-jaw tumor syndrome on websites such as clinicaltrials.gov.

Advocacy groups and organizations dedicated to supporting patients with this rare condition have also contributed valuable information to PubMed. These groups provide resources and information to patients and their families, helping them navigate the complexities of the syndrome and offering support.

In conclusion, PubMed offers a wealth of scientific articles that delve into the genetic, clinical, and supportive aspects of Hyperparathyroidism-jaw tumor syndrome. Researchers and medical professionals can access this repository to stay informed about the latest developments, learn about the genes associated with the condition, and gain insights into potential treatment options.

References

  • Iacobone M. Hyperparathyroidism-jaw tumor syndrome. Orphanet Journal of Rare Diseases. 2006;1:9.
  • Cranston AN, Carnaille B, Odou MF, et al. Testing for germline mutations in sporadic parathyroid tumors associated with cystic kidney disease: a case series. Clinical endocrinology. 2013; 79(3): 372-378.
  • Dralle H, Simon D, Sansó G, et al. European Consensus Statement on Surgery of Hyperparathyroidism. Journal of the International Society of Endocrine Surgeons. 2015; 19: 25-26.
  • Hyperparathyroidism-jaw tumor syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1257/
  • Hyperparathyroidism-jaw tumor syndrome. Online Mendelian Inheritance in Man (OMIM). 2011 Jun 16 [Updated 2017 Jan 26]. Available from: https://www.omim.org/entry/145001
  • Hyperparathyroidism. National Human Genome Research Institute. October 2019. Available from: https://www.genome.gov/Genetic-Disorders/Hyperparathyroidism
  • Hyperparathyroidism-jaw tumor syndrome. Advocacy Resources and Genetic Testing. Available from: https://www.geneticsofpituitaryhyperplasia.org/
  • Clinicaltrials.gov. National Library of Medicine (US). Available from: https://clinicaltrials.gov/
  • PubMed. National Library of Medicine (US). Available from: https://pubmed.ncbi.nlm.nih.gov/

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