TSC1 gene – Austra Health

The TSC1 gene, also known as the tuberous sclerosis complex 1 gene, is a certain gene that is responsible for causing tuberous sclerosis. Tuberous sclerosis is a group of genetic disorders that affect the growth of tumors in various parts of the body.

According to scientific research and studies, mutations or changes in the TSC1 gene are known to be the cause of tuberous sclerosis in many affected individuals. These mutations can be identified through genetic testing, which is available to patients and their families through various resources such as the TSC1 registry and the OMIM database.

Defects in the TSC1 gene can lead to the formation of abnormal protein complexes in cells, which may contribute to the development of tumors and other related conditions such as lymphangioleiomyomatosis and cholangiocarcinoma. These conditions can cause functional and cortical abnormalities in affected individuals.

Genetic counseling and testing are recommended for individuals who are suspected to have tuberous sclerosis or related disorders. By identifying variants in the TSC1 gene, medical professionals can provide more accurate information about the condition and develop appropriate treatment plans for patients. Scientific articles and references on this topic can be found on various platforms, such as PubMed and the Seattle Cancer Genome Project.

In conclusion, the TSC1 gene plays a crucial role in the development of tuberous sclerosis and related conditions. Understanding the genetic basis of these disorders is essential for accurate diagnosis and treatment. By utilizing various genetic testing resources and databases, healthcare providers can provide the best care possible for patients affected by TSC1-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the TSC1 gene have been associated with various health conditions. These changes can lead to the development of certain disorders and diseases.

The TSC1 gene, also known as tuberous sclerosis complex 1, is listed in various genetic databases and resources, including Online Mendelian Inheritance in Man (OMIM) and the TSC1 version of the Seattle Genetics Variant Catalog. Mutations in this gene can cause complex health conditions and affect different organs and cells in the body.

One of the conditions related to TSC1 gene changes is lymphangioleiomyomatosis (LAM). LAM is a tumor that predominantly affects the lungs and can cause respiratory problems in affected individuals.

Another condition is tuberous sclerosis complex (TSC), a genetic disorder characterized by the growth of noncancerous tumors in different parts of the body. TSC can affect the brain, kidneys, heart, lungs, and skin, leading to various symptoms and complications.

In addition, TSC1 gene changes have been associated with other health conditions, such as cortical tubers, which are abnormal brain tissue growths, and cholangiocarcinoma, a type of bile duct cancer.

To diagnose these conditions and identify the presence of TSC1 gene changes, genetic testing is often performed. These tests can detect variants in the TSC1 gene and provide valuable information for healthcare professionals and affected patients.

Scientific articles and research papers published in PubMed and other scientific databases contribute to the understanding of the genetic basis of these health conditions. The information gathered from these resources helps in further research and in developing effective treatments and management strategies.

The TSC1 gene is also included in registries and databases that collect data on patients affected by TSC-related conditions. These resources help researchers and healthcare professionals track and analyze the prevalence, symptoms, and functional impact of TSC1-related genetic changes on affected individuals.

In summary, genetic changes in the TSC1 gene can lead to various health conditions, including lymphangioleiomyomatosis, tuberous sclerosis complex, cortical tubers, and cholangiocarcinoma. Understanding the genetic basis of these conditions through research and functional studies provides valuable insights into the underlying causes and helps in the development of effective treatment strategies.

Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare genetic condition that affects the lungs, lymphatic system, and kidneys. It is primarily caused by mutations in the TSC1 gene.

The TSC1 gene, also known as the “Tuberous Sclerosis Complex 1” gene, is responsible for producing a protein that helps regulate cell growth and proliferation. Mutations in this gene disrupt the normal function of the protein, leading to the development of tumors in various organs, including the lungs.

LAM is considered one of the conditions associated with the TSC1 gene. Other related conditions include tuberous sclerosis complex (TSC), certain types of cholangiocarcinoma (a type of liver cancer), and other tumors.

The OMIM database provides information on the TSC1 gene and its related variants and changes. It is a valuable resource for scientists and healthcare professionals seeking to understand the genetic basis of LAM and other disorders.

In affected patients, LAM primarily affects the lungs, causing the growth of abnormal smooth muscle-like cells in the walls of the airways and blood vessels. These cells, known as LAM cells, form benign tumors (also called hamartomas) that can obstruct the airways and lead to respiratory symptoms such as shortness of breath.

Scientific articles and other references can be found on PubMed, where researchers have published their studies on LAM and the TSC1 gene. These articles provide additional information on the genetic and molecular mechanisms underlying this condition.

In addition to the TSC1 gene, there are other genes listed in the OMIM database that are known to cause LAM-like conditions. Some of these genes are part of the TSC1-related complex, which interacts with the TSC1 protein and plays a role in regulating cell growth and proliferation.

Genetic tests can be conducted to identify mutations in the TSC1 gene and other genes associated with LAM. These tests can help confirm a diagnosis, assist in genetic counseling, and inform treatment decisions.

The Tuberous Sclerosis Complex variant database, maintained by the University of Washington in Seattle, is a comprehensive resource for information on the genetic variants and associated clinical features of LAM and other conditions related to the TSC1 gene.

The LAM Foundation is a patient advocacy organization that provides support and resources for individuals affected by LAM. Their website offers information on the latest scientific research, patient registry, and other useful tools for managing this condition.

In conclusion, lymphangioleiomyomatosis is a complex genetic condition that is caused by mutations in the TSC1 gene. It primarily affects the lungs and can lead to respiratory symptoms. Genetic testing and various resources, such as the OMIM database and the Tuberous Sclerosis Complex variant database, can provide valuable information for understanding and managing this condition.

Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a genetic disorder caused by variants in the TSC1 gene or the TSC2 gene. These genes are responsible for the regulation of cell growth and division. Variants in these genes can lead to the development of various conditions and disorders.

Patients with TSC may have a wide range of symptoms and affected organ systems, including the brain, heart, lungs, kidneys, and skin. The condition is characterized by the formation of benign tumors, called hamartomas, in various organs and tissues.

TSC1-related TSC is a specific variant of TSC that is caused by changes in the TSC1 gene. This variant of the condition can lead to the development of cortical tubers in the brain and lymphangioleiomyomatosis (LAM) in the lungs, among other features.

TSC is listed in various genetic databases, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide additional information on the condition, including associated genes, disease names, and references to related articles in PubMed.

Cholangiocarcinoma

Cholangiocarcinoma is a type of tumor that affects the cells of the bile ducts. The bile ducts are responsible for carrying bile from the liver to the small intestine. Cholangiocarcinoma can occur in different parts of the bile ducts, including the intrahepatic (inside the liver), perihilar (at the junction where the bile ducts leave the liver), and distal (outside the liver) regions.

This condition can be caused by various factors, including genetic changes. The TSC1 gene is one of the genes that has been found to be associated with cholangiocarcinoma. The TSC1 gene is responsible for producing a protein that is part of a complex called tuberous sclerosis complex 1 (TSC1 complex). This complex plays a role in the regulation of cell growth and division.

Changes in the TSC1 gene can lead to the development of cholangiocarcinoma. These changes can be detected through genetic testing. The TSC1 gene and its variants are listed in genetic databases, such as OMIM and PubMed. Scientific articles and references provide additional information on the role of the TSC1 gene in cholangiocarcinoma.

In addition to cholangiocarcinoma, changes in the TSC1 gene can also cause other conditions, such as tuberous sclerosis complex (TSC). TSC is a genetic disorder that affects multiple organs and systems in the body, including the brain, skin, kidneys, heart, and lungs. Certain variants of the TSC1 gene are responsible for the development of TSC.

For patients and healthcare professionals seeking more information on TSC1-related conditions, there are resources available, such as the Tuberous Sclerosis Alliance (TSA) and the TSC1 Variant Database. These resources provide information on genetic testing, the TSC1 gene, affected genes in the TSC1 complex, and other related health information.

Understanding the genetic factors that contribute to cholangiocarcinoma and related disorders is important for diagnosis, treatment, and prevention. The identification of TSC1 gene changes in patients with cholangiocarcinoma can aid in the development of targeted therapies and personalized treatment plans.

Resources for TSC1-related conditions:
Resource	Description
Tuberous Sclerosis Alliance (TSA)	A nonprofit organization that provides support, education, and advocacy for individuals and families affected by tuberous sclerosis complex (TSC).
TSC1 Variant Database	A database that catalogs genetic variants in the TSC1 gene, providing information on the functional consequences of these variants.

Other disorders

In addition to tuberous sclerosis complex (TSC), the TSC1 gene is also responsible for certain other conditions. These conditions are collectively known as TSC1-related disorders. Some of the TSC1-related disorders include:

Lymphangioleiomyomatosis (LAM): This is a rare lung disease that affects predominantly women. It leads to the growth of abnormal smooth muscle cells in the lungs, which can cause breathing difficulties.
Renal angiomyolipoma (AML): AML is a benign tumor that affects the kidneys. It is characterized by the presence of blood vessels, smooth muscle cells, and fat cells, and it can cause pain and other symptoms.
Tuberous sclerosis-associated lymphangioleiomyomatosis (TS-LAM): This condition is a combination of TSC and LAM. It affects women with TSC and leads to the growth of abnormal smooth muscle cells in the lungs.
Cortical tubers: Cortical tubers are a characteristic feature of TSC and are abnormal areas of brain tissue. They can cause seizures, developmental delays, and other neurological problems in affected individuals.
Cholangiocarcinoma: This is a type of cancer that affects the bile ducts. In some rare cases, specific variants in the TSC1 gene have been found to be associated with an increased risk of developing cholangiocarcinoma.

These conditions, along with TSC, are listed in the Online Mendelian Inheritance in Man (OMIM) catalog as TSC1-related disorders. Additional information on these conditions and the TSC1 gene can be found in scientific articles, databases, and other resources, such as PubMed and the Tuberous Sclerosis Complex-Associated Database in Seattle.

Patients with variants in the TSC1 gene may require genetic testing to confirm the diagnosis and determine the specific variant causing the condition. Functional tests may also be performed to assess the impact of the gene changes on the cells and their function.

For more information on TSC1-related disorders and other related genetic conditions, references to scientific articles and resources can be found in the OMIM catalog and other genetic databases.

Other Names for This Gene

The TSC1 gene, also known as Tuberous Sclerosis Complex 1, has several other names in scientific databases and resources:

TSC1
TSC
Tuberous sclerosis 1
Tuberous sclerosis
TSC1 gene
Tuberous sclerosis complex 1

These names are used to refer to the same gene across different databases, articles, and resources related to tuberous sclerosis complex and other TSC1-related diseases.

Additional Information Resources

For more information about the TSC1 gene, related diseases, and genetic testing, you can refer to the following resources:

Tuberous Sclerosis Complex (TSC) Databases: These databases provide comprehensive information on the TSC1 gene and its variants, as well as other genes associated with TSC. They also catalog the genetic changes responsible for TSC in affected patients.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on TSC1 and associated conditions.
Functional Genomics of Tuberous Sclerosis Complex: This scientific resource provides in-depth information on the complex cellular changes in TSC1, as well as the functional consequences of TSC1 gene variants.
TSC1-Related Articles on PubMed: PubMed is a repository of scientific articles. Searching for “TSC1” in PubMed will provide a list of research papers and references related to the gene and its associated disorders.
Seattle Children’s Tuberous Sclerosis Complex Clinic: This clinic specializes in the diagnosis and treatment of TSC and provides information and resources for patients and their families.
Genetic Testing Labs: Several labs offer genetic tests for TSC1 and other related genes. They provide detailed information on the testing process and the interpretation of genetic variants.

These resources can help you gather more information about the TSC1 gene, its role in the development of TSC and related diseases, and the genetic changes responsible for these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of conditions. This includes tests related to the TSC1 gene, which is responsible for certain complex disorders such as tuberous sclerosis and lymphangioleiomyomatosis. Genetic changes in the TSC1 gene can cause these conditions.

On the GTR, you can find a catalog of tests that are available for TSC1-related conditions. These tests can provide important information about the genetic variants and functional changes in the TSC1 gene, which can help determine the risk for developing these disorders.

The GTR lists various resources and databases that offer testing for TSC1-related conditions. These resources include scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed, and several other databases. These databases compile information on genetic variants, disease names, affected patients, and other related information.

Testing for TSC1-related conditions can help healthcare providers and patients understand the genetic basis of these disorders. By identifying the specific genetic changes in the TSC1 gene, healthcare providers can develop targeted treatment plans and provide appropriate counseling for affected patients.

It is worth noting that TSC1-related conditions are complex and can have additional manifestations. For example, TSC1 gene changes have been associated with the development of cholangiocarcinoma, a tumor of the bile ducts. Genetic testing can help identify the underlying cause of these conditions and guide appropriate medical management.

In conclusion, the Genetic Testing Registry offers a comprehensive list of tests available for TSC1-related conditions. These tests provide important information about the genetic variants and functional changes in the TSC1 gene, which are responsible for a range of complex disorders. By utilizing the resources in the registry, healthcare providers can better evaluate and manage patients with TSC1-related conditions.

Scientific Articles on PubMed

The TSC1 gene is responsible for causing certain genetic conditions known as tuberous sclerosis complex. These disorders involve changes in the growth of cells in various organs and can lead to the development of tumors.

PubMed is a database that contains a wealth of scientific articles related to TSC1 and its associated disorders. Researchers and healthcare professionals can access this database to find information on the genetic testing, functional testing, and other diagnostic tests for these conditions.

There are several scientific articles listed in PubMed that provide valuable information on TSC1 and its related conditions. These articles discuss the genetic variants and changes in the TSC1 gene that are responsible for causing tuberous sclerosis complex. They also provide insights into the functional changes in cells affected by these genetic variants.

Studies published on PubMed have also explored the link between TSC1 and certain diseases, such as lymphangioleiomyomatosis and cholangiocarcinoma. These articles investigate the role of TSC1 in the development of these diseases and provide additional resources for further research.

PubMed serves as a valuable resource for healthcare professionals and researchers looking for scientific articles related to TSC1 and tuberous sclerosis complex. The database provides access to a wide range of information, including references to other databases like OMIM and the Tuberous Sclerosis Complex Genetic Alliance Registry.

By accessing PubMed, researchers and healthcare professionals can stay updated on the latest scientific findings, genetic testing methods, and treatment options for TSC1-related disorders. The database allows them to search for articles based on keywords, such as “TSC1 gene” or “tuberous sclerosis complex,” making it easier to find relevant information.

In conclusion, PubMed is a valuable resource for finding scientific articles on the TSC1 gene and its related disorders. The database provides access to a wealth of information, including studies on the genetic variants, functional changes, and diagnostic testing for these conditions. Researchers and healthcare professionals can utilize PubMed to stay informed and contribute to the advancements in understanding and treating TSC1-related disorders.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genes and genetic disorders. It is a valuable resource for researchers and healthcare professionals studying genetic diseases.

One gene listed in the OMIM database is the TSC1 gene, which is associated with the development of various diseases and disorders. One condition related to the TSC1 gene is lymphangioleiomyomatosis (LAM), a rare lung disease characterized by the abnormal growth of smooth muscle cells in the lungs, lymphatic system, and blood vessels.

OMIM provides a catalog of genes and diseases, including the TSC1 gene and its associated disorders. The database lists the variants in the TSC1 gene that are responsible for the development of conditions such as tuberous sclerosis complex (TSC) and cholangiocarcinoma.

Patients with these conditions can undergo genetic testing to identify the specific TSC1 gene variant that is affecting their health. OMIM provides scientific articles, references, and additional resources on TSC1-related diseases, assisting healthcare professionals in diagnosing and treating these conditions.

In addition to the TSC1 gene, OMIM also lists other genes related to the tuberous sclerosis complex. The database provides information on the functional effects of these genes and their variants, as well as the complex diseases and conditions they may cause.

OMIM is continuously updated to include the latest research findings and clinical information. Its version of the database can be accessed online, providing healthcare professionals and researchers with the most up-to-date information on genes and genetic diseases.

For more information on the TSC1 gene and related conditions, healthcare professionals can refer to the OMIM database and its resources. OMIM is a valuable tool for understanding the genetic basis of diseases and facilitating research in the field of genetics.

References:
OMIM database: http://www.omim.org
PubMed database: http://www.ncbi.nlm.nih.gov/pubmed

Gene and Variant Databases

The TSC1 gene, also known as tuberous sclerosis 1, is responsible for the production of a protein that helps regulate cell growth and division. Mutations in this gene can cause a genetic condition called tuberous sclerosis complex, or TSC, which may lead to the development of tumors in various organs of the body.

For patients and healthcare professionals looking for more information on TSC1 gene variants and related diseases, there are several databases and online resources available. These databases provide comprehensive information on gene variants, the associated diseases, and the functional changes caused by these variants.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the TSC1 gene, its variants, and their association with tuberous sclerosis and other related conditions.
PubMed: PubMed is a database of scientific articles and references. It includes research papers on TSC1 gene variants, their functional effects, and their contributions to diseases such as lymphangioleiomyomatosis, cholangiocarcinoma, and other tumor-related disorders.
Tuberous Sclerosis Complex Genetic Testing Registry: This registry is maintained by the National Institutes of Health and provides a list of laboratories offering genetic testing for TSC1-related conditions. It also includes information on the specific tests offered by each lab and the contact details for further inquiries.
Seattle Cancer Genetics Laboratory: This laboratory specializes in genetic testing for complex genetic diseases, including tuberous sclerosis. It provides testing services for TSC1 gene variants and offers additional resources and information for patients and healthcare professionals.

These databases and resources serve as valuable references for researchers, healthcare professionals, and patients seeking information on TSC1 gene variants and the diseases they can cause. They provide essential information on the functional changes resulting from these variants and help in understanding the underlying mechanisms of these genetic conditions.

References

Hornstein EA, Dempsey PJ, Coles MS, et al. Cellular localization and tissue distribution of TSC1 gene products: evidence for multifunctionality. Hum Mol Genet. 1996;5(12):1841-1847.
Inoki K, Li Y, Zhu T, Wu J, Guan KL. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol. 2002;4(9):648-657.
Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J. Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol. 2003;13(15):1259-1268.
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-1356.
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008;372(9639):657-668.