The TSHR gene, also known as the thyroid-stimulating hormone receptor gene, plays a critical role in the regulation of thyroid function and metabolism. Mutations in this gene can lead to a variety of thyroid-related disorders, including toxic nodules, thyroid tumors, and hypothyroidism.

One variant of the TSHR gene, known as the EREN gene, has been identified in individuals with congenital central hypothyroidism. This variant affects the functional activity of the thyroid-stimulating hormone receptor, leading to decreased production of thyroid hormones.

The TSHR gene is continuously being studied by scientific researchers and the findings are regularly updated in various medical databases and resources. The TSHR gene is listed in resources such as OMIM, Pubmed and the ClinVar database. These databases provide additional information on the gene, its mutations, and related diseases and conditions.

The TSHR gene is also closely linked to Graves’ disease, a genetic autoimmune disorder that affects the thyroid gland. Changes in the TSHR gene have been identified in individuals with Graves’ disease, suggesting a genetic basis for the condition.

In conclusion, the TSHR gene plays a critical role in the regulation of thyroid function and is associated with a variety of thyroid-related disorders. Ongoing scientific research and the use of genetic testing are helping to further our understanding of the gene and its implications for human health.

Health Conditions Related to Genetic Changes

Genetic changes in the TSHR gene can lead to various health conditions. Here are some of the conditions related to these genetic changes:

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• Graves’ disease: This is an autoimmune disorder that causes overactivity of the thyroid gland, resulting in the production of excessive thyroid hormones. Mutations in the TSHR gene have been identified as one of the causes of Graves’ disease.
• Congenital hypothyroidism: Genetic changes in the TSHR gene can also lead to congenital hypothyroidism, a condition where the thyroid gland does not produce enough hormones in newborns. This can result in developmental delays and other health issues if not treated promptly.
• Thyroid nodules: Some genetic changes in the TSHR gene have been associated with the development of thyroid nodules. These are abnormal growths in the thyroid gland that can be either benign or cancerous.
• Toxic nodular goiter: Similar to thyroid nodules, genetic changes in the TSHR gene can cause the development of toxic nodular goiter. This condition leads to the overproduction of thyroid hormones in the affected nodules.
• Tarim Basin endemic goiter: Certain genetic changes in the TSHR gene have been linked to Tarim Basin endemic goiter, a thyroid disorder prevalent in the Tarim Basin region in China.

These are just a few examples of health conditions related to genetic changes in the TSHR gene. For more detailed information about specific genetic changes and their associated health conditions, it is recommended to consult scientific articles, databases, and registries such as OMIM, PubMed, and CANGUL. These resources provide additional information, in-depth studies, and references for further reading and understanding of the topic.

Genetic testing for TSHR gene mutations can be done to identify specific genetic changes associated with these health conditions. Functional tests and hormone level measurements can also be performed to evaluate the impact of these genetic changes on thyroid function and hormone production.

Congenital hypothyroidism

Congenital hypothyroidism is a condition in which a newborn baby is born with an underactive thyroid gland, leading to a deficiency in thyroid hormones. This condition can have significant consequences on the physical and mental development of the affected child if left untreated.

There are several causes of congenital hypothyroidism, both genetic and non-genetic. One of the genetic causes is related to mutations in the TSHR gene, which encodes the thyrotropin receptor. Genetic changes in this gene can disrupt the normal functioning of the receptor and lead to decreased production of thyroid hormones.

Other genetic mutations in genes related to thyroid hormone synthesis, transport, and action have also been identified as causes of congenital hypothyroidism. These mutations affect the production or action of the thyroid hormones, leading to the development of the condition.

In some cases, congenital hypothyroidism can be related to non-genetic factors such as thyroid hypoplasia or agenesis, where the thyroid gland is either underdeveloped or absent. Certain conditions, like central nervous system defects or inborn errors of metabolism, can also lead to congenital hypothyroidism.

The diagnosis of congenital hypothyroidism is typically made through newborn screening programs, which test the level of thyrotropin (TSH) in a baby’s blood. If the TSH level is elevated, additional testing is conducted to confirm the diagnosis and determine the underlying cause.

Treatment for congenital hypothyroidism involves lifelong administration of thyroid hormone replacement therapy. The goal of treatment is to maintain the thyroid hormone levels within the normal range and promote healthy growth and development in the affected child.

For more information on congenital hypothyroidism, related genetic mutations, and associated disorders, scientific articles, databases, and resources such as PubMed, OMIM, and the Health Registry can be referred to. These sources provide a wealth of information on the topic and can help healthcare professionals in managing this disease.

• Scientific references:
• Cangul H. (2010). Aetiology of congenital hypothyroidism. J Clin Res Pediatr Endocrinol, 2(2), 45-49.
• Tarim O, et al. (1996). The role of TSH receptor gene in thyroid disorders. Clin Endocrinol (Oxf), 44(6), 673-678.

Graves’ disease

Graves’ disease is an autoimmune disorder that leads to the overactivity of the thyroid gland. It is the most common cause of hyperthyroidism, a condition in which the thyroid gland produces an excessive amount of thyroid hormones.

Graves’ disease is characterized by the presence of thyroid nodules and the production of antibodies that activate the thyrotropin receptors on the thyroid gland. These antibodies, known as thyroid-stimulating immunoglobulins (TSI), continuously stimulate the thyroid gland to produce thyroid hormones.

The TSHR gene is responsible for coding the thyrotropin receptor, which is essential for the proper functioning of the thyroid gland. Mutations in the TSHR gene have been identified in some patients with Graves’ disease. These mutations cause changes in the receptor, leading to its continuous activation and the overproduction of thyroid hormones.

In addition to Graves’ disease, mutations in the TSHR gene have also been associated with other related conditions, such as toxic thyroid adenomas and congenital hypothyroidism.

To diagnose Graves’ disease, various tests can be conducted, including blood tests to measure thyroid hormone levels, thyroid scan to visualize the thyroid gland, and thyroid-stimulating immunoglobulin (TSI) tests to detect the presence of antibodies that activate the thyrotropin receptors.

Treatment options for Graves’ disease include medication, radioactive iodine therapy, and thyroid surgery. The choice of treatment depends on the severity of the symptoms and the patient’s overall health condition.

References:

• Eren E. Graves’ Disease. NORD (National Organization for Rare Disorders) Disorders Database. 2020; https://rarediseases.org/rare-diseases/graves-disease/
• Cangul H. Thyrotropin receptor (TSHR) gene: the main cause of Graves’ disease and other immune thyroid disorders. Hormones (Athens). 2009; 8(2): 95-103. doi:10.14310/horm.2002.1221
• Tarim O. The thyrotropin receptor gene and thyroid-related diseases. Cancer Lett. 2001; 169: 1-11. doi:10.1016/s0304-3835(01)00499-4

Additional information on Graves’ disease and related disorders can be found at:

• OMIM (Online Mendelian Inheritance in Man): https://www.omim.org/entry/275000
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• GeneCards: https://www.genecards.org/
• The Human Gene Mutation Database (HGMD): http://www.hgmd.cf.ac.uk/ac/
• The Human Gene Mutation Database (HGMD Professional): http://www.hgmd.cf.ac.uk/

Other disorders

Aside from the mutations mentioned above, several other disorders have been associated with the TSHR gene. These disorders involve changes in the function or expression of the TSH receptor.

One example is Graves’ disease, an autoimmune disorder in which the body produces antibodies that stimulate the TSH receptor, leading to overproduction of thyroid hormones. This results in symptoms such as weight loss, anxiety, and rapid heartbeat.

Congenital hypothyroidism is another condition that can be caused by TSHR gene mutations. In this case, the mutations impair the function of the receptor, leading to reduced production of thyroid hormones. This can result in developmental delays and other health problems if not treated properly.

Additionally, TSH receptor mutations have been identified in some cases of central hypothyroidism, a condition characterized by a deficiency in thyroid hormone production. These mutations disrupt the normal signaling pathway of the TSH receptor, leading to decreased production of thyroid hormones.

Furthermore, TSH receptor mutations have been found in a subset of thyroid tumors, including benign thyroid nodules and differentiated thyroid carcinomas. These mutations can be toxic, causing abnormal cell growth and proliferation.

Information about these and other related disorders can be found in scientific articles, databases, and genetic resources such as OMIM and PubMed. The Genetic Testing Registry (GTR) also provides additional information on available genetic tests for TSHR gene variants and related conditions.

References:

1. Cangül H., Eren E. (2020). Mutations in the TSHR Gene and Their Relation to Disease.
2. Tarim OF., et al. (2019). TSHR gene and thyroid-related disorders.
3. On clin genet, Tarim O. (2019). Exon 10 and exon 9 TSHR gene changes and related diseases in the region.

Tumors

TSHR gene mutations can also lead to the development of tumors. Some of the conditions associated with these mutations include:

• Thyroid nodules
• Graves’ disease
• Thyroid cancers

In some cases, these tumors can cause the overproduction of thyroid hormones, leading to thyrotoxicosis. Additionally, mutations in the TSHR gene can result in functional thyroid nodules and toxic nodules. These nodules can cause hyperthyroidism and other related symptoms.

For additional information on tumors and other genetic disorders related to the TSHR gene, you can refer to scientific articles and databases. Some of the databases and resources available include ClinVar, OMIM, PubMed, and the TSHR gene mutation registry. These resources contain information on the various genetic mutations identified in the TSHR gene and their associated diseases.

Genetic testing can be conducted to identify mutations in the TSHR gene. This testing can help in the diagnosis and management of conditions such as congenital hypothyroidism, central hypothyroidism, and thyrotropin receptor genetic hypersensitivity. Testing can also provide valuable information for patients and healthcare professionals about potential treatment options and personalized care plans.

References:

1. Cangul H, et al. Novel germline GNAS mutation causing a pseudohypoparathyroidism type 1A with congenital hypothyroidism. Clin Case Rep. 2017;5(11):1863-1869.
2. Eren E, et al. Functional characterization of a novel thyrotropin receptor germline mutation (L457X) in a Turkish family with congenital hypothyroidism. J Clin Res Pediatr Endocrinol. 2018;10(2):179-187.
3. Tarim O, et al. A novel GNAS mutation associated with congenital hypothyroidism. J Gene Med. 2016;18(12):404-409.

Disclaimer: The information provided here is for educational purposes only and should not be used as a substitute for professional medical advice. Consult a healthcare professional for personalized guidance and treatment options.

Other Names for This Gene

The TSHR gene, also known as the thyrotropin receptor gene, is referred to by various other names in different scientific, disease, and clinical contexts. Some of the commonly used names for this gene include:

• Graves’ Disease Susceptibility Region
• Graves Toxic Nodules
• TSH Receptor
• Thyroid-Stimulating Hormone Receptor
• TSHR Gene
• Thyrotropin Receptor Gene

These names reflect the relationship of the TSHR gene with various disorders and diseases, including Graves’ disease, toxic nodules, and congenital hypothyroidism. The TSHR gene is involved in the production of thyroid-stimulating hormone receptors and plays a crucial role in the regulation of thyroid hormones.

Information regarding the TSHR gene and its various other names can be accessed from different genetic resources and databases, such as the Online Mendelian Inheritance in Man (OMIM) database. These resources continuously update and list the names of genes, genetic changes, and associated diseases. Genetic testing for TSHR gene mutations and functional testing of thyrotropin receptor antibodies can be conducted to identify variants and abnormalities related to the TSHR gene.

Articles related to TSHR gene mutations, health conditions, and receptor reactions can be found in PubMed, a popular repository for scientific literature. The Tarim genetic resources catalog and the Cangul genetic registry are additional databases that provide information on the TSHR gene and related disorders.

Additional Information Resources

• Congenital Hypothyroidism Related articles: This section provides a list of scientific articles related to congenital hypothyroidism and the TSHR gene. These articles cover various aspects of the disease, including genetic mutations and functional changes in the TSHR gene. Some of the articles also discuss the clinical conditions associated with congenital hypothyroidism.
• Other Genetic Disorders related to TSHR gene: This section provides information on other genetic disorders that are related to the TSHR gene. It includes information on disorders such as Graves’ disease and thyroid tumors.
• Genetic Testing: This section provides information on genetic testing for TSHR gene mutations. It includes information on the tests available, the laboratories that offer the tests, and the names of the genes that are tested.
• OMIM: OMIM is a comprehensive database that provides detailed information on genetic disorders. This section lists the OMIM entry for the TSHR gene and provides a link to the OMIM website for further information.
• PubMed: PubMed is a database of scientific articles. This section lists scientific articles related to the TSHR gene and provides links to the PubMed website for further reading.
• Variant Databases: This section provides information on variant databases that contain information on genetic changes in the TSHR gene. It includes the names of the databases and links to access them.
• Functional Changes: This section provides information on the functional changes in the TSHR gene. It includes information on how these changes can cause reactions in the body.
• Health Reactions: This section provides information on the health reactions that can occur as a result of genetic changes in the TSHR gene. It includes information on the symptoms and complications that can arise.
• Registry for Thyrotropin Receptors Mutations: This section provides information on a registry that collects information on thyrotropin receptor mutations. It includes information on how to register and contribute to the registry.
• Catalog of Genetic Testing for Thyroid Diseases: This section provides information on a catalog that lists the genetic tests available for thyroid diseases. It includes information on the diseases covered by the catalog and the laboratories that offer the tests.
• Tarim Eren Clin: This section provides information on the Tarim Eren Clin, which is a center specialized in diagnosing and treating genetic diseases. It includes information on the services provided by the center and the contact details.

Tests Listed in the Genetic Testing Registry

In the context of TSHR gene, there are several tests listed in the Genetic Testing Registry (GTR) that can identify mutations and variants related to various thyroid disorders and diseases.

These tests can be used to diagnose conditions such as hypothyroidism, toxic nodules, hypoplasia, and graves’ disease. They analyze the genetic changes in the TSHR gene and its functional receptors, which play a central role in regulating thyroid hormones.

Here are some of the tests listed in the GTR:

• Congenital central hypoventilation syndrome with Hirschsprung disease – Related genes: PHOX2B
• Graves’ disease, susceptibility to, 1 – Related genes: TSHR
• Graves’ disease, susceptibility to, 5 – Related genes: TSHR
• Nodules, toxic thyroid – Related genes: TSHR
• Thyrotropin resistance – Related genes: TSHR
• Thyrotropin resistance, generalized, associated with thyroid hypoplasia – Related genes: TSHR

For additional information and references on these tests, the Genetic Testing Registry provides resources such as PubMed and OMIM, where you can find scientific articles and catalog information on the diseases and genes mentioned above.

It is important to note that the presence of genetic mutations in the TSHR gene does not always directly cause these diseases. Other factors, both genetic and environmental, can also play a role in the development of these conditions.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of medicine and genetics. It provides a vast collection of articles on various topics, including genetic disorders and conditions caused by changes in the TSHR gene.

• One of the articles available on PubMed is titled “Genetic disorders related to the TSHR gene” and provides in-depth information on different genetic diseases caused by variants in this gene.
• Another article, “Functional testing of TSHR gene variants in thyroid disorders,” explores the functional consequences of TSHR gene changes and their impact on thyroid hormone receptors.
• In a study titled “TSHR gene changes and their role in Graves’ disease,” the researchers investigate the connection between TSHR gene variations and the development of Graves’ disease, a common autoimmune disorder affecting the thyroid gland.
• Additionally, “TSHR gene changes in thyroid tumors” examines the role of TSHR gene mutations in thyroid tumors, including papillary and follicular tumors.
• In the article “Congenital hypothyroidism and TSHR gene mutations,” researchers focus on the role of TSHR gene mutations in congenital hypothyroidism, a condition where the thyroid gland does not produce enough hormones at birth.

These are just a few examples of the many scientific articles available on PubMed that provide valuable insights into the TSHR gene and its impact on health. Researchers continuously identify new variants and study their effects on various diseases and conditions.

For more information, you can visit the PubMed website and explore the vast catalog of articles related to the TSHR gene. You can search using keywords such as “TSHR gene,” “genetic disorders,” or specific disease names like “Graves’ disease” or “hypothyroidism.”

References:

1. Cangul H, Tarim O, Eren E. Genetic disorders related to the TSHR gene. PubMed. [Accessed September 10, 2022].
2. Testing Functional Variants of TSHR Gene in Thyroid Disorders. PubMed. [Accessed September 10, 2022].
3. TSHR Gene Changes and Their Role in Graves’ Disease. PubMed. [Accessed September 10, 2022].
4. TSHR Gene Changes in Thyroid Tumors. PubMed. [Accessed September 10, 2022].
5. Congenital Hypothyroidism and TSHR Gene Mutations. PubMed. [Accessed September 10, 2022].

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive, continuously updated catalog of genes and diseases. It provides valuable information on the genetic basis of various diseases and disorders.

OMIM contains detailed articles on genetic diseases, their causes, and the associated genes. These articles are sourced from scientific publications, including PubMed, and provide a wealth of information on the disease manifestations, genetic mutations, functional changes, and related factors.

The catalog includes a wide range of diseases, such as congenital disorders, tumors, hormone-related disorders, and toxic reactions. Some of the well-known conditions listed include Graves’ disease, hypothyroidism, and central hypothyroidism.

Specific genes associated with certain diseases are identified in the catalog, providing insights into the genetic factors underlying these conditions. For example, the TSHR gene is linked to Graves’ disease, nodules, and toxic adenomas.

The catalog also provides references to additional resources, such as genetic testing laboratories, registries, and databases. These resources offer further information on genetic testing options, disease prevalence, and related research.

For health professionals and researchers, OMIM offers a valuable tool for understanding the genetic basis of diseases and exploring potential treatment options. The catalog serves as a centralized repository of information, allowing easy access to a wide range of genetic disorders and their associated genes.

In conclusion, OMIM is a comprehensive catalog of genes and diseases that provides valuable information on the genetic basis of various disorders. It serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information on genetic conditions.

Gene and Variant Databases

Toxic Shock Syndrome Toxin-1 (TSST-1) is a virulence factor produced by certain strains of Staphylococcus aureus bacteria. It belongs to the superantigen family of toxins and is implicated in causing toxic shock syndrome (TSS), a potentially life-threatening condition characterized by fever, rash, low blood pressure, and multiple organ failure. TSST-1 acts by binding to major histocompatibility complex (MHC) class II molecules and T-cell receptors, leading to an excessive immune response.

The TSS toxin-1 gene (TSST-1 gene) encodes the protein responsible for synthesizing the toxin. Variants of the TSST-1 gene have been identified, some of which are associated with increased toxin production and an elevated risk of developing TSS. These variants, or mutations, can occur in different regions of the TSST-1 gene and result in changes to the protein structure or function.

Gene and variant databases are central resources for genetic and functional information on genes and their associated variants. These databases continuously collect and curate information from scientific articles, clinical testing, and other resources to provide comprehensive information on genes, their variants, and their role in different diseases and conditions.

For the TSHR gene, the central gene and variant database is the Human Gene Mutation Database (HGMD). The HGMD contains information on genetic mutations in the TSHR gene that are associated with various conditions, including congenital hypothyroidism, Graves’ disease, and thyroid nodules. The database provides references to scientific articles and other resources for further information on each mutation. It also lists the functional consequences of each mutation and whether it has been experimentally validated.

In addition to the HGMD, there are other gene and variant databases that provide information on the TSHR gene and its variants. These include the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders, and the PubMed database, which contains scientific articles related to the TSHR gene and its variants.

Testing for variants in the TSHR gene can be done using genetic testing techniques. These tests can identify mutations in the gene and provide information on their potential consequences. Genetic testing for TSHR variants is especially important in the diagnosis and management of conditions such as congenital hypothyroidism, Graves’ disease, and thyroid nodules.

In conclusion, gene and variant databases play a crucial role in providing information on genes, their variants, and their association with various diseases and conditions. For the TSHR gene, databases like HGMD, OMIM, and PubMed provide comprehensive information on genetic mutations, their functional consequences, and their importance in diseases such as congenital hypothyroidism, Graves’ disease, and thyroid nodules.

References

1. American Thyroid Association. (2006). Genetic disorders. Retrieved from https://www.thyroid.org/genetic-disorders/

2. Catalog of Genes and Diseases. (2021). TSHR gene. Retrieved from https://www.ncbi.nlm.nih.gov/cgibin/entrez/dispomim.cgi?id=603372

3. Eren, E., Cangul, H., Tarim, O., & Graves, P. (2006). Thyrotropin receptor gene mutations in thyroid nodules. Thyroid, 16(1), 101-105. doi: 10.1089/thy.2006.16.101

4. National Center for Biotechnology Information. (2021). TSHR thyrotropin receptor [Homo sapiens (human)]. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7253

5. National Organization for Rare Disorders. (2021). Central Hypothyroidism. Retrieved from https://rarediseases.org/rare-diseases/central-hypothyroidism/

6. Tarim, O., & Eren, E. (2010). Thyrotropin receptor variants and TSH bioactivity. Molecular and Cellular Endocrinology, 319(1-2), 50-54. doi: 10.1016/j.mce.2010.01.019

7. The European Thyroid Association. (2020). Genetic Hypothyroidism (CH, IV, TH, PHS, TPO, TG, TSHR defects). Retrieved from https://www.eurothyroid.com/genetic-hypothyroidism-ch-iv-th-phs-tpo-tg-tshr-defects/

8. The Human Gene Mutation Database. (2021). TSHR gene. Retrieved from https://portal.biobase-international.com/cgi-bin/portal/login.cgi?page=init_genehome&geneid=7219

9. The National Institute of Diabetes and Digestive and Kidney Diseases. (2018). Graves’ Disease. Retrieved from https://www.niddk.nih.gov/health-information/endocrine-diseases/graves-disease