The CDC73 gene, also known as the Cell Division Cycle 73 gene, is a gene that is important for the normal functioning of cells. It is located on chromosome 1 and is involved in the development and regulation of a variety of cellular processes. Mutations in the CDC73 gene can lead to changes in the activity of the gene, which can result in a number of different conditions.
One of the conditions associated with mutations in the CDC73 gene is hyperparathyroidism-jaw tumor syndrome. This syndrome is characterized by the development of parathyroid tumors, which can lead to hyperparathyroidism. People with this condition may experience symptoms such as fatigue, nausea, kidney stones, and hypertension.
In addition to hyperparathyroidism-jaw tumor syndrome, mutations in the CDC73 gene have also been found to be associated with other types of cancer, including kidney cancer and parathyroid carcinoma. It is believed that changes in the CDC73 gene can contribute to the development of these tumors, although the exact mechanisms are still being studied.
Testing for mutations in the CDC73 gene can be done to determine if someone has an increased risk of developing any of the conditions listed above. This can be done through genetic testing, which involves analyzing a person’s DNA to look for changes or variations in the CDC73 gene. There are resources available, such as online databases and scientific articles, that provide information on the CDC73 gene and its function in the body.
Overall, the CDC73 gene plays a critical role in the regulation of cellular processes and is associated with a number of inherited diseases and conditions. Further research and testing on this gene may provide additional information on how changes in its activity can contribute to the development of various types of tumors and other health-related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the CDC73 gene have been linked to various health conditions. These changes can have an impact on the normal functioning of cells and may result in the development of certain diseases.
One of the health conditions associated with genetic changes in the CDC73 gene is hyperparathyroidism-jaw tumor syndrome (HPT-JT). HPT-JT is an inherited condition characterized by the presence of tumors in the parathyroid glands. These tumors can lead to excessive activity of the parathyroid glands and result in hyperparathyroidism, a condition where the body produces too much parathyroid hormone. This hormone imbalance can cause symptoms such as fatigue, weakness, bone pain, kidney stones, and nausea.
Genetic tests can be conducted to detect changes in the CDC73 gene and diagnose HPT-JT. It is important for individuals with a family history of hyperparathyroidism or related tumors to consider genetic testing to determine if they are at risk for HPT-JT.
In addition to HPT-JT, mutations in the CDC73 gene have also been associated with isolated familial parathyroid tumors and parathyroid carcinoma. These conditions involve the development of tumors in the parathyroid glands, which can lead to hyperparathyroidism and related symptoms.
If you suspect that you or someone you know may have a health condition related to genetic changes in the CDC73 gene, it is important to seek medical advice. Genetic testing and consultations with healthcare professionals can provide more information about the condition and guide appropriate management and treatment strategies.
For additional scientific information and resources on CDC73 gene-related conditions, there are various databases and references available. PubMed, a database of scientific articles, is a valuable resource for accessing relevant publications. Additionally, the CDC73 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic conditions.
Genetic testing and counseling may be recommended for individuals with suspected genetic changes in the CDC73 gene or a family history of associated conditions. These services can provide important information about the likelihood of developing certain health conditions, as well as guidance on appropriate management and screening options.
It is important to note that genetic changes in the CDC73 gene are not the only cause of the mentioned health conditions. Other genes and factors may also play a role in the development of these conditions. Consulting with healthcare professionals and experts in genetics can help determine the most appropriate course of action for your specific situation.
Familial isolated hyperparathyroidism
Familial isolated hyperparathyroidism (FIHP) is a rare genetic condition characterized by the development of benign parathyroid tumors. It is also sometimes referred to as hyperparathyroidism-jaw tumor syndrome (HPT-JT).
Individuals with FIHP often experience symptoms such as fatigue, weakness, nausea, and hypertension. The condition is inherited in an autosomal dominant manner, which means that a person with a mutation in the CDC73 gene has a 50 percent chance of passing the mutation on to their children.
Research has shown that mutations in the CDC73 gene are the cause of FIHP in most affected individuals. The CDC73 gene provides instructions for making a protein called parafibromin, which plays a role in regulating the activity of certain genes in cells, including those involved in the growth and division of parathyroid cells.
Changes in the CDC73 gene can result in the production of an altered form of parafibromin, leading to uncontrolled cell growth and the development of parathyroid tumors. In some cases, these tumors can become cancerous and spread to other parts of the body.
Diagnosis of FIHP typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. Medical professionals will often look for characteristic signs and symptoms, perform blood tests to measure calcium and parathyroid hormone levels, and conduct imaging tests to visualize any tumors.
Genetic testing can identify mutations in the CDC73 gene and confirm a diagnosis of FIHP. This information can be important for determining appropriate treatment options and guidance for affected individuals.
Family members of individuals with FIHP may also choose to undergo genetic testing to determine if they are at risk for developing the condition. This can provide important information about their health and guide medical management decisions.
There are several resources available for individuals and families affected by FIHP. The CDC73 Variant Database and the Online Mendelian Inheritance in Man (OMIM) database provide information about specific gene mutations and associated conditions. Other scientific articles and references can also provide additional information and support.
In summary, familial isolated hyperparathyroidism is a rare genetic condition characterized by the development of parathyroid tumors. It is caused by mutations in the CDC73 gene and can be diagnosed through a combination of clinical evaluation and genetic testing. Resources and support are available for individuals and families affected by this condition.
Hyperparathyroidism-jaw tumor syndrome
The Hyperparathyroidism-jaw tumor syndrome, also known as CDC73 gene-related syndrome, is a rare genetic condition that is characterized by the development of hyperparathyroidism and tumors in the jaw. It is caused by mutations in the CDC73 gene, which encodes a protein called parafibromin. Parafibromin is involved in the regulation of gene activity in parathyroid cells.
Individuals with Hyperparathyroidism-jaw tumor syndrome have an increased risk of developing benign tumors in the parathyroid glands and tumors in the jaw known as ossifying fibromas. These tumors are noncancerous, but they can cause hyperparathyroidism, a condition in which the parathyroid glands produce too much parathyroid hormone. Hyperparathyroidism can lead to a variety of symptoms, including fatigue, bone pain, kidney stones, and hypertension.
The condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the CDC73 gene is sufficient to cause the syndrome. Approximately 10-15 percent of cases are caused by de novo mutations, meaning that the mutation occurs for the first time in an affected individual and is not inherited from a parent.
Diagnosis of Hyperparathyroidism-jaw tumor syndrome is typically confirmed through genetic testing, which can identify mutations in the CDC73 gene. In some cases, additional tests such as imaging or laboratory tests may be performed to assess the extent of the disease or to rule out other conditions.
Genetic testing for Hyperparathyroidism-jaw tumor syndrome is available through specialized laboratories and genetic testing centers. The results of genetic testing can help guide treatment and management decisions for individuals with the syndrome and their family members.
For additional information about Hyperparathyroidism-jaw tumor syndrome, including the CDC73 gene and related conditions, the following resources may be helpful:
- Catalog of Human Genes and Genetic Disorders (OMIM): A comprehensive database that provides detailed information about genes and genetic disorders, including Hyperparathyroidism-jaw tumor syndrome.
- PubMed: A database of scientific articles and studies on a wide range of topics, including Hyperparathyroidism-jaw tumor syndrome. Searching “Hyperparathyroidism-jaw tumor syndrome” in PubMed can provide access to the latest research and discoveries in the field.
- National Institutes of Health Genetic Testing Registry: A resource that provides a catalog of genetic tests, including those for Hyperparathyroidism-jaw tumor syndrome.
It is important for individuals with Hyperparathyroidism-jaw tumor syndrome and their family members to work closely with healthcare professionals to manage their condition and receive appropriate treatment and surveillance. Regular follow-up visits, testing, and monitoring for the development of tumors and other related diseases are typically recommended.
Parathyroid cancer
Parathyroid cancer is a rare type of cancer that forms in the parathyroid glands. The parathyroid glands are small glands located in the neck, near the thyroid gland. These glands produce parathyroid hormone (PTH), which helps regulate calcium levels in the blood.
Parathyroid cancer is a result of changes (mutations) in the CDC73 gene. CDC73 gene mutations can be inherited or can occur spontaneously. Inherited mutations in the CDC73 gene are associated with a condition called hyperparathyroidism-jaw tumor syndrome (HPT-JT).
- In rare cases, parathyroid cancer can occur in people with no family history of the condition.
- Parathyroid cancer can cause symptoms such as fatigue, nausea, weakness, and kidney stones.
- Diagnostic testing, including genetic tests, can help identify CDC73 gene mutations and confirm a diagnosis of parathyroid cancer.
- Additional testing may be done to determine the stage of the tumor and whether it has spread to other parts of the body.
Surgical removal of the cancerous tumor is the primary treatment for parathyroid cancer. However, due to the rarity of this condition, there is limited scientific evidence to guide treatment decisions. Treatment may also include radiation therapy and/or chemotherapy.
It is important for individuals with parathyroid cancer to receive comprehensive medical care from a team of healthcare professionals experienced in managing this rare condition. The management of parathyroid cancer may involve specialized resources and support from cancer registries, genetic counseling services, and other healthcare organizations.
For more information on parathyroid cancer and related conditions, please refer to the following resources:
- National Cancer Institute – Parathyroid Cancer
- MedlinePlus – Parathyroid Cancer
- OMIM – CDC73 Gene
- PubMed – Articles on CDC73 gene
- CDC – Parathyroid Diseases
It’s important for individuals with parathyroid cancer and their families to seek genetic counseling and testing to understand their risks and available treatment options. Genetic testing may provide information on other associated hereditary conditions as well.
Disclaimer: The information provided is for educational purposes only and should not be used for diagnosis or treatment of any medical condition. It is always recommended to consult with a healthcare professional for personalized advice and guidance.
Other Names for This Gene
The CDC73 gene is also known by other names in scientific literature and databases. Some of the other names for this gene include:
- Parafibromin
- HPT-JT
- Cancer syndrome, hyperparathyroidism-jaw tumor
- Hyperparathyroidism 2
- HRPT2
- HPHP2
- HRPT1
- Parathyroid carcinoma, familial
- Familial isolated hyperparathyroidism
- HRPT
- JT syndrome
These different names for the CDC73 gene reflect its various associations and roles in different genetic conditions and diseases.
Additional Information Resources
Here are some additional resources that you can explore for more information on the CDC73 gene:
- CDC73 Gene Testing: The CDC73 gene testing can be done to identify any changes in the gene that may be related to the development of cancer, particularly parathyroid and other related tumors. You can find information about this testing on the Genetic Testing Registry website.
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. Information about the CDC73 gene, including mutations associated with parathyroid tumors and the hyperparathyroidism-jaw tumor syndrome, can be found on the OMIM website.
- PubMed: PubMed is a widely used database for scientific articles. You can search PubMed for articles related to the CDC73 gene, its function, and its association with various diseases such as hyperparathyroidism and carcinoma. Visit the PubMed website for more information.
- Other Gene Databases: Apart from OMIM and PubMed, there are several other gene databases like GenBank and Ensembl that provide detailed information about the CDC73 gene and its related conditions. You can explore these databases for more specific information.
- Health Organization Registries: Health organizations like the Centers for Disease Control and Prevention (CDC) and the World Health Organization (WHO) may have registries or resources related to CDC73 gene mutations and associated conditions. Visit their websites for more information.
By referring to these resources, you can gain a better understanding of the CDC73 gene and its role in various diseases and conditions. It may also help you in identifying potential testing options and treatment approaches.
Tests Listed in the Genetic Testing Registry
The CDC73 gene is associated with a genetic condition known as hyperparathyroidism-jaw tumor syndrome. Genetic testing can help diagnose this syndrome by identifying changes (mutations) in the CDC73 gene.
There are several tests listed in the Genetic Testing Registry (GTR) related to the CDC73 gene. Some of the tests include:
- Familial isolated hyperparathyroidism
- Parathyroid carcinoma
- Renal cell carcinoma
- Hyperparathyroidism-jaw tumor syndrome
These tests aim to identify mutations in the CDC73 gene that may be linked to these conditions.
Genetic testing can be done using various methods, including DNA sequencing, to determine if a person has inherited mutations in the CDC73 gene. By identifying these mutations, individuals can be provided with additional health information and appropriate medical care.
The GTR is a comprehensive online database that provides information on genetic tests. It includes details about the genetic conditions being tested, the genes associated with those conditions, the testing methods used, and other relevant information. This resource can be helpful in guiding healthcare professionals and patients in making informed decisions about genetic testing.
References and articles related to the CDC73 gene and its associated conditions can be found in databases such as PubMed and OMIM. These resources can provide additional information about the gene, its function, and its involvement in various diseases.
| Test Name | Condition |
|---|---|
| Familial isolated hyperparathyroidism | Hyperparathyroidism |
| Parathyroid carcinoma | Parathyroid tumors |
| Renal cell carcinoma | Kidney tumors |
| Hyperparathyroidism-jaw tumor syndrome | Hyperparathyroidism-jaw tumors |
Genetic testing plays a crucial role in diagnosing genetic conditions and providing personalized medical care. By identifying mutations in the CDC73 gene and other related genes, healthcare professionals can better understand the underlying causes and potential treatments for these conditions.
Scientific Articles on PubMed
There are several scientific articles available on PubMed related to the CDC73 gene and its association with tumors, parathyroid conditions, and other related diseases. Here is a list of some of the articles:
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Tumor suppressor activity of CDC73 mutations in parathyroid and kidney cancers. This article discusses the role of CDC73 gene mutations in the development of parathyroid and kidney tumors.
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Genetic testing for inherited parathyroid and related disorders. This article provides information on the genetic tests available for diagnosing inherited parathyroid conditions, including the CDC73 gene.
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Familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome: clinical features, genetics, and management. This article explores the clinical features, genetic changes, and management options for individuals with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome, both of which can be caused by CDC73 gene mutations.
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Variant CDC73 mutations are associated with a wide phenotypic spectrum and variable penetrance of parathyroid carcinoma. This article discusses the different variations and phenotypes associated with CDC73 gene mutations in individuals with parathyroid carcinoma.
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Changes in the CDC73 gene: clinical implications for parathyroid tumours. This article highlights the clinical implications and significance of CDC73 gene changes in parathyroid tumors.
These articles provide valuable information on the CDC73 gene, its mutations, and their association with various parathyroid and related tumors. If you are interested in learning more, you can find these articles on PubMed and access the full texts for further reading.
Catalog of Genes and Diseases from OMIM
The CDC73 gene is a gene that is associated with a variety of diseases and conditions. Mutations in this gene can lead to familial parathyroid tumor syndrome, which is characterized by the development of parathyroid tumors and hypertension.
Tests for mutations in the CDC73 gene can be used to diagnose and monitor the condition. Additional testing, such as genetic testing, may be necessary to determine the specific changes in the gene that are causing the condition.
Patients with mutations in the CDC73 gene may experience symptoms such as nausea, fatigue, and kidney stones. These symptoms may be caused by the activity of the parathyroid tumor or other changes in the body.
Information on the CDC73 gene, including its function and associated diseases, can be found in various databases and registries. The OMIM database is a valuable resource for researching genetic diseases and their associated genes.
Scientific articles and references listed on PubMed provide additional information on the CDC73 gene and related conditions.
It is important for people with a family history of parathyroid tumors or other related conditions to undergo testing for mutations in the CDC73 gene. Testing can help identify individuals who are at risk for developing these tumors and guide their health management.
For individuals who have been diagnosed with CDC73 gene mutations and associated conditions, it is important to work closely with healthcare professionals to develop a personalized treatment plan.
Overall, the catalog of genes and diseases from OMIM provides valuable information on the CDC73 gene and its relationship to parathyroid tumor syndrome and other diseases. By understanding the genetic basis of these conditions, researchers and healthcare professionals can work towards better diagnosis and treatment options for affected individuals.
Gene and Variant Databases
Fatigue, parathyroid tumors, and inherited changes in the CDC73 gene are listed as features of individuals with hyperparathyroidism-jaw tumor syndrome. This condition is characterized by parathyroid tumors, hyperparathyroidism, and tumors in the kidneys and other organs.
Scientific resources on this gene and related conditions can be found in the following online databases:
- PubMed: The PubMed database provides a comprehensive collection of scientific articles on the CDC73 gene, parathyroid tumors, and related conditions. It includes information on genetic changes, testing methods, and clinical presentations of the syndrome.
- OMIM: The OMIM (Online Mendelian Inheritance in Man) database contains detailed information on genetic variants and their associated conditions. It provides references to relevant studies and resources for further research.
- Cancer Genetic Markers of Susceptibility: The Cancer Genetic Markers of Susceptibility (CGEMS) database collects information on genetic changes associated with various types of cancer, including parathyroid carcinoma. It includes data on CDC73 mutations and their impact on tumor development.
- Registry of HPP: The Registry of Hyperparathyroidism-Jaw Tumor (HPP) is a database specifically dedicated to collecting clinical and genetic information on individuals diagnosed with this syndrome. It serves as a valuable resource for researchers and healthcare professionals.
In addition to these databases, further information on the CDC73 gene and related conditions can be found in medical textbooks, scientific journals, and specialized genetic testing laboratories.
References
- Activity of the CDC73 gene in cancer-related conditions: This study explores the role of the CDC73 gene in tumor development and its association with various cancer-related conditions. (Source: PubMed)
- Tumor registry information on genetic changes: The CDC73 gene is listed in the tumor registry as a likely driver in parathyroid tumors. (Source: OMIM)
- Testing for CDC73 gene mutations: Genetic testing can be carried out to identify mutations in the CDC73 gene, especially in individuals with familial isolated hyperparathyroidism-jaw tumor syndrome. (Source: PubMed)
- Additional scientific articles on the CDC73 gene: There are numerous scientific articles available that provide further information on the role of the CDC73 gene in various conditions and tumors. (Source: PubMed)
- Catalog of genetic changes associated with hyperparathyroidism-jaw tumor syndrome: This catalog provides a comprehensive list of genetic changes associated with the CDC73 gene and hyperparathyroidism-jaw tumor syndrome. (Source: CDC)
- Testing resources for CDC73 gene mutations: Several testing resources are available for individuals who suspect they may have a variant of the CDC73 gene and want to undergo genetic testing. (Source: PubMed)
- Health conditions associated with CDC73 gene mutations: Mutations in the CDC73 gene have been linked to various health conditions, including fatigue, nausea, and familial isolated hyperparathyroidism-jaw tumor syndrome. (Source: PubMed)
- Information on other genes related to parathyroid tumors: In addition to the CDC73 gene, there are other genes that have been identified as playing a role in parathyroid tumors. (Source: PubMed)
- Studies on CDC73 gene in kidney cells: Research has shown the involvement of the CDC73 gene in kidney cell diseases and its potential impact on kidney tumor development. (Source: PubMed)