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Tuberous sclerosis complex (TSC) is a rare genetic condition that affects cellular growth and can produce tumor-like growths in various areas of the body. It is also known as tuberous sclerosis or TSC2. TSC is a complex disease that can cause a range of symptoms and health problems in affected individuals.

The condition is caused by mutations in the TSC1 or TSC2 genes, which are responsible for producing proteins called hamartin and tuberin, respectively. These proteins help regulate cell growth and division. When the TSC1 or TSC2 genes are mutated, the production of hamartin or tuberin is disrupted, leading to uncontrolled cell growth and the formation of tumors.

TSC can affect multiple organ systems, including the brain, heart, skin, kidneys, and lungs. The most common symptoms include seizures, intellectual disabilities, developmental delays, skin abnormalities, and kidney tumors. However, the severity and frequency of symptoms can vary widely from person to person.

TSC is a rare condition, with an estimated frequency of 1 in 6,000 to 1 in 10,000 individuals. It can occur sporadically, without a family history, or it can be inherited from a parent with TSC. Genetic testing is available to confirm a diagnosis of TSC and identify specific mutations in the TSC1 or TSC2 genes.

There is currently no cure for TSC, but there are treatment options available to manage the symptoms and complications associated with the condition. These may include medications to control seizures, surgery to remove tumors, and behavioral and educational support for individuals with developmental disabilities.

Research into the causes and treatment of TSC is ongoing. The Tuberous Sclerosis Alliance and other advocacy and support organizations provide resources and information for individuals and families affected by TSC. Additional information can be found on websites such as PubMed, OMIM, and the ClinicalTrials.gov database, which provide access to scientific articles, clinical studies, and other research and resources related to TSC.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Frequency

Tuberous sclerosis complex (TSC) is a rare genetic condition that affects multiple areas of the body. It is estimated to occur in about 1 in 6,000 to 1 in 10,000 individuals worldwide. This condition is caused by mutations in the TSC1 or TSC2 genes, which produce proteins called hamartin and tuberin, respectively.

TSC can affect both males and females of all ethnic backgrounds. It is known to occur in all races and ethnic groups. The condition can be inherited from a parent with TSC or it can occur sporadically, meaning it is not inherited from a parent and arises from a new mutation in the genes.

According to the Tuberous Sclerosis Alliance, about one-third of TSC cases are inherited from a parent, while the remaining two-thirds occur sporadically. The pattern of inheritance for TSC follows an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition.

The exact frequency of TSC can vary depending on the population studied and the diagnostic criteria used. It is estimated that about 85% of individuals with TSC have the condition due to a mutation in the TSC2 gene, while about 15% have a mutation in the TSC1 gene.

The signs and symptoms of TSC can vary greatly from person to person, even among individuals with the same genetic mutation. This is due to the complex interactions between the hamartin and tuberin proteins and other genes and pathways in the body. The severity of the condition can range from mild to severe.

TSC is characterized by the development of benign tumors called hamartomas in various organs and tissues, including the brain, skin, kidneys, heart, lungs, and eyes. These tumors can cause a range of symptoms and complications, depending on their size and location. They can affect the structure and function of the affected organs and tissues.

Individuals with TSC may also develop other conditions, such as epilepsy, intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), and kidney disease.

Treatment for TSC focuses on managing the symptoms and complications associated with the condition. This may include medications to control seizures, surgery to remove tumors or correct structural abnormalities, and supportive therapies to address developmental and behavioral challenges.

Research is ongoing to better understand the causes of TSC and to develop new treatment options. Several clinical trials are currently underway to evaluate potential therapies for TSC. Patient advocacy groups, such as the Tuberous Sclerosis Alliance, provide support and resources for individuals and families affected by TSC.

For more information about TSC, visit the Tuberous Sclerosis Alliance website, the National Institutes of Health’s Genetic and Rare Diseases Information Center, or the Online Mendelian Inheritance in Man (OMIM) database. You can also find scientific articles and research studies on TSC by searching the PubMed database.

Causes

Tuberous sclerosis complex (TSC) is a rare genetic condition that affects about 1 in 6,000 to 1 in 10,000 individuals worldwide. It is characterized by the growth of non-cancerous tumors, called hamartomas, in various organs and tissues throughout the body.

The condition is caused by mutations in either the TSC1 (also known as hamartin) or TSC2 (also known as tuberin) genes. These genes provide instructions for making proteins that help regulate cell growth and division. Mutations in either gene can lead to uncontrolled cell growth and the development of hamartomas.

In most cases, the mutations that cause TSC are inherited from a parent who also has the condition. This is called an autosomal dominant pattern of inheritance. However, about one-third of cases are not inherited and occur spontaneously. These are called sporadic cases.

Testing for TSC usually involves genetic testing to look for mutations in the TSC1 and TSC2 genes. This can confirm a diagnosis of TSC in individuals with characteristic clinical features of the condition. Genetic testing can also be used to determine the inheritance pattern in families affected by TSC.

The growth of hamartomas in the brain can cause a variety of neurological symptoms and complications in individuals with TSC. These can include seizures, developmental delays, intellectual disability, and behavioral problems. The severity and specific areas affected can vary widely from person to person.

Research and scientific studies on TSC are ongoing, and advancements in understanding the condition have led to improved diagnosis, treatment, and support for patients and their families. Various advocacy groups, such as the Tuberous Sclerosis Alliance and the Tuberous Sclerosis Complex Research Program, provide resources and information for patients and healthcare professionals.

Additional information about TSC can be found from reputable sources such as PubMed, OMIM, and the TSC Patient Information Center. These resources offer a wealth of articles and references for individuals interested in learning more about the condition, its causes, and available treatments.

See also  Perrault syndrome

Furthermore, clinical trials listed on ClinicalTrials.gov provide an opportunity for patients to participate in studies aimed at further understanding TSC and developing new treatments. These trials are often conducted by research centers and healthcare providers specializing in TSC, such as the Tuberous Sclerosis Complex Center at the University of Washington in Seattle.

Overall, TSC is a complex condition caused by genetic mutations in the TSC1 or TSC2 genes. It is associated with the uncontrolled growth of hamartomas in various organs and tissues throughout the body. Through genetic testing, research, and advocacy efforts, more information and support are available for individuals and families affected by TSC.

Learn more about the genes associated with Tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects the growth of cells in various areas of the body. It is caused by mutations in the TSC1 or TSC2 genes, which produce proteins called hamartin and tuberin, respectively. These proteins work together to regulate cell growth and prevent the formation of tumors. When the TSC1 or TSC2 genes are mutated, the proteins they produce are not functional, leading to uncontrolled cell growth and the development of tumors.

Studies have shown that TSC1 and TSC2 mutations can occur sporadically, meaning they are not inherited from parents. However, in some cases, the mutations can be inherited in an autosomal dominant pattern, where a mutation in only one copy of the gene is enough to cause the condition.

There is a wide range of symptoms associated with TSC, including the formation of benign tumors in various organs such as the brain, kidneys, heart, lungs, and skin. In the brain, these tumors can cause neurological problems such as seizures, intellectual disabilities, and behavioral issues.

If you want to learn more about the genes associated with Tuberous sclerosis complex, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic diseases and associated genes. The Tuberous Sclerosis Complex Health Reference Center from the University of Washington in Seattle is also a valuable source of information.

For additional information on ongoing research and clinical trials related to TSC and the associated genes, you can visit the ClinicalTrials.gov website. This website provides up-to-date information on clinical trials investigating potential treatments for TSC and other related diseases.

It is important for patients and their families to stay informed about the latest scientific advancements and resources available to support them in managing this complex condition. By learning more about the genes associated with Tuberous sclerosis complex, individuals can better understand the causes and potential treatments for this rare disease.

Inheritance

Tuberous sclerosis complex (TSC) is a genetic disorder that is inherited in an autosomal dominant pattern. This means a person with TSC has a 50% chance of passing the condition on to each of their children. However, in about two-thirds of cases, TSC occurs sporadically due to a new mutation in the genes responsible for the condition.

TSC is caused by mutations in either the TSC1 or TSC2 genes. These genes are responsible for producing proteins that help regulate cell growth and division. Mutations in the TSC1 gene are associated with a milder form of the condition, while mutations in the TSC2 gene tend to cause more severe symptoms.

It is important for individuals with TSC to consider genetic testing to determine the specific genetic mutation causing their condition. This can provide important information about the likelihood of passing the condition on to future generations.

Research on the inheritance pattern of TSC has led to a better understanding of the functional effects of the TSC1 and TSC2 genes. This knowledge has also facilitated the development of targeted therapies for TSC-related tumors.

In addition to TSC, the TSC1 and TSC2 genes are associated with other rare diseases and conditions. Researchers are studying these genes to learn more about their role in various health conditions.

For more information about inheritance patterns and genetic testing for TSC, visit:

Patients and families affected by TSC can also find support and advocacy resources from organizations such as the Tuberous Sclerosis Alliance and the Tuberous Sclerosis Association. These organizations provide information, articles, and additional resources for individuals affected by TSC.

References:

  1. Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243-254. doi:10.1016/j.pediatrneurol.2013.08.001
  2. Gomez MR. Mortality in tuberous sclerosis. Pediatr Neurol. 1991;7(3):203-204. doi:10.1016/0887-8994(91)90013-7
  3. Straussberg R, Lotan D, Ling E, et al. Renal manifestations of tuberous sclerosis complex: patients’ and parents’ knowledge and routines for renal follow-up – a questionnaire study. BMC Nephrol. 2011;12:8. Published 2011 Feb 11.
  4. Crino PB, Nathanson KL, and Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-56.

Other Names for This Condition

Tuberous sclerosis complex (TSC) is also known by the following names:

  • Bourneville disease
  • Bourneville-Pringle syndrome
  • Epiloia
  • Pringle disease
  • Adenoma sebaceum
  • Tuberous sclerosis

TSC is a rare genetic condition caused by mutations in the TSC1 or TSC2 genes. These genes are responsible for producing the proteins hamartin and tuberin, which work together to regulate cell growth and division. Mutations in these genes lead to uncontrolled cell growth and the development of tumors in various areas of the body.

TSC affects multiple organs, including the brain, skin, kidneys, heart, and lungs. The severity of the condition can vary widely, with some individuals experiencing mild symptoms and others experiencing more severe complications.

Additional information about TSC, its inheritance pattern, and the specific genes associated with the condition can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov.

Clinical trials and research studies are ongoing to learn more about TSC and to develop more effective treatments. Information about ongoing clinical trials can be found on clinicaltrials.gov.

Support and advocacy organizations, such as the Tuberous Sclerosis Alliance and the Tuberous Sclerosis Complex Research Center at the University of Washington in Seattle, provide resources and support for patients and their families affected by this condition.

References:

  1. Dabora SL, Jozwiak S, Franz DN, et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 68(1):64-80. PMID: 11112660
  2. Tuberous Sclerosis Alliance. What is TSC? Accessed May 20, 2021. https://www.tsalliance.org/about-tsc/what-is-tsc/
  3. U.S. National Library of Medicine. Tuberous sclerosis complex. Accessed May 20, 2021. https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex

Additional Information Resources

If you are interested in learning more about Tuberous Sclerosis Complex (TSC), here are some resources that provide additional information on the condition, its causes, and associated health issues:

  • Seattle Children’s Tuberous Sclerosis Program: This program focuses on clinical care, research, and advocacy for individuals with TSC. It offers comprehensive resources and support for patients and families. Learn more
  • National Tuberous Sclerosis Association: This organization is dedicated to providing support and information to individuals with TSC and their families. They offer resources, research updates, and advocacy efforts. Visit their website
  • ClinicalTrials.gov: This scientific database provides up-to-date information on clinical studies related to TSC. It allows you to search for clinical trials, learn about their purpose, eligibility criteria, and locations. Access clinical trials on TSC
  • Pubmed: This database contains a vast collection of scientific articles and research papers on TSC. It is a valuable resource for accessing the latest scientific discoveries and advancements. Access TSC articles on Pubmed
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of genetic conditions. It provides detailed information on TSC, including its inheritance pattern, associated genes, and more. Learn more on OMIM
See also  CRPPA gene

These resources will provide you with more information on the frequency, causes, inheritance pattern, and clinical features associated with Tuberous Sclerosis Complex. They also offer support and resources for patients and families affected by this condition.

Genetic Testing Information

Tuberous sclerosis complex (TSC) is a rare genetic condition that causes the growth of non-cancerous tumors in various areas of the body. This condition affects approximately 1 in 6,000 to 1 in 10,000 people worldwide. The condition is caused by mutations in either the TSC1 or TSC2 genes.

The TSC1 gene produces a protein called hamartin, while the TSC2 gene produces a protein called tuberin. These proteins work together to regulate cell growth and division. Mutations in either gene can lead to uncontrolled cell growth and the development of tumors.

Genetic testing can be done to identify mutations in the TSC1 or TSC2 genes. This testing can be helpful for confirming a diagnosis of TSC in a patient who has symptoms consistent with the condition. It can also be used to provide information about the specific genetic cause of TSC in a person.

There are several different types of genetic testing that can be done for TSC. DNA sequencing can be used to directly examine the genes for mutations. Other testing methods, such as targeted mutation analysis or deletion/duplication analysis, can be used to look for specific types of genetic changes.

In some cases, genetic testing may be done to determine whether a person with TSC has inherited the condition from a parent or if it has occurred sporadically. The inheritance pattern of TSC can vary, and genetic testing can provide information about the likelihood of passing the condition on to future generations.

Genetic testing for TSC is typically performed at specialized genetic testing centers or by genetic counselors. These centers often have access to the latest research and clinical trials related to TSC and can provide the most up-to-date information and resources for patients and their families.

For more information about genetic testing for TSC, you can visit websites such as the Genetic and Rare Diseases Information Center, the National Institutes of Health’s Office of Rare Diseases Research, or the Tuberous Sclerosis Alliance. These websites provide information on genetic testing resources, research studies, advocacy groups, and other support for individuals with TSC and their families.

Additional Resources:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about the rare genetic condition, Tuberous Sclerosis Complex (TSC). TSC is a rare genetic disorder that primarily affects the brain and can produce a variety of symptoms. It is also associated with the development of tumors in various areas of the body.

The GARD is a program of the National Center for Advancing Translational Sciences (NCATS), located in Seattle, Washington. The center serves as a resource for patients, their families, and healthcare providers seeking information about genetic and rare diseases.

TSC is caused by mutations in either the TSC1 or TSC2 genes. These genes provide instructions for producing proteins called hamartin and tuberin, respectively. Mutations in these genes can lead to the production of non-functional or insufficient amounts of these proteins, which can cause uncontrolled cell growth and the formation of tumors.

Although TSC can occur sporadically, meaning it is not inherited, it can also be inherited in an autosomal dominant pattern. This means that if a person has a parent with TSC, they have a 50% chance of inheriting the condition.

The GARD website provides a wealth of information about TSC, including links to additional resources and research studies. It also offers a searchable catalog of scientific articles and references related to the condition. These resources can help individuals learn more about TSC, find support groups and advocacy organizations, and access information about clinical trials and genetic testing.

The GARD website also provides information about other rare diseases and conditions, in addition to TSC. Visitors to the site can learn about the causes, symptoms, and treatment options for various rare diseases.

  • For more information about TSC, visit the GARD website.
  • For information about clinical trials related to TSC, visit the ClinicalTrials.gov website.
  • For information about TSC as an inherited genetic condition, visit the Online Mendelian Inheritance in Man (OMIM) website.
  • For more scientific articles and research on TSC, visit PubMed.

By accessing these resources, individuals can learn more about TSC and find support and information to help them manage the condition and improve their health and well-being.

Patient Support and Advocacy Resources

If you are looking for more information about Tuberous Sclerosis Complex (TSC) or need support, there are several patient support and advocacy resources available to help you. These resources provide information on the causes of TSC, testing for the condition, and other related diseases.

1. Tuberous Sclerosis Alliance (TS Alliance)

  • The TS Alliance is a non-profit organization that provides support and resources for people affected by TSC.
  • Their website offers a comprehensive version of their catalog, which includes articles, scientific studies, and more on TSC.
  • You can also find information about research studies, clinical trials, and additional genetic information on their website.

2. TSC International

  • TSC International aims to provide support, education, and advocacy for individuals living with TSC and their families.
  • They offer resources on various aspects of TSC, including information about TSC clinics, support groups, and advocacy efforts.
  • TSC International also provides a patient version of the catalog, which contains accessible information about the condition.

3. Tuberous Sclerosis Complex Clinic at Seattle Children’s Hospital

  • The Tuberous Sclerosis Complex Clinic at Seattle Children’s Hospital specializes in diagnosing and treating TSC.
  • The clinic provides comprehensive care for individuals with TSC and their families and offers resources to support their unique needs.

4. Online Resources

  • There are other online resources you can explore for information and support, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
  • OMIM provides detailed information about genes and the clinical features of TSC, while PubMed offers scientific articles and research studies related to the condition.
  • Additionally, you can visit ClinicalTrials.gov to learn about ongoing studies and clinical trials associated with TSC.

If you or a loved one has been diagnosed with TSC, it is important to seek support and information from patient advocacy resources. These organizations and clinics can provide guidance and assistance in navigating the complexities of this rare condition. Remember, support is available, and you are not alone in your journey.

References:

[1] Tuberous Sclerosis Alliance. (n.d.). About TSC. Retrieved from http://www.tsalliance.org/about-tsc/

See also  Norrie disease

[2] TSC International. (n.d.). About TSC. Retrieved from https://tscinternational.org/tuberous-sclerosis-complex-tsc/

[3] Seattle Children’s Hospital. (n.d.). Tuberous Sclerosis Complex (TSC) Clinic. Retrieved from https://www.seattlechildrens.org/clinics/tuberous-sclerosis-complex-tsc-clinic/

[4] Online Mendelian Inheritance in Man. (n.d.). Tuberous Sclerosis Complex. Retrieved from https://www.omim.org/entry/613254

[5] PubMed. (2014). Tuberous Sclerosis Complex. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/24658780

[6] ClinicalTrials.gov. (n.d.). Tuberous Sclerosis Complex. Retrieved from https://clinicaltrials.gov/ct2/results?term=tuberous+sclerosis+complex

Research Studies from ClinicalTrialsgov

Research studies are valuable resources for individuals and the medical community to learn more about the rare condition known as Tuberous Sclerosis Complex (TSC). This genetic disorder affects the growth of cells in various parts of the body and produces uncontrolled tumor growth. It can cause a range of health problems and has an inheritance pattern.

ClinicalTrialsgov is a comprehensive online catalog of research studies that focus on TSC and other related diseases. It provides information on clinical trials, patient resources, and scientific articles associated with TSC. The website is an excellent source of information for patients, caregivers, and advocacy organizations seeking to learn more about this condition.

One of the studies listed on ClinicalTrialsgov is being conducted at the Seattle Tuberous Sclerosis Center. This center specializes in research and clinical care for individuals with TSC. The study aims to further understand the causes and effects of TSC and develop testing methods for the associated genes, such as TSC1 and TSC2.

TSC is a rare condition, with an estimated frequency of 1 in 6,000 to 1 in 10,000 births. It can affect multiple areas of the body, including the brain, skin, kidneys, lungs, and heart. The condition can lead to various symptoms and complications, such as seizures, intellectual disability, and the development of tumors in affected organs.

The TSC genes, TSC1 and TSC2, play a crucial role in the condition. Mutations in these genes lead to the abnormal production of a protein called tuberin, which is responsible for regulating cell growth and division. When the function of tuberin is disrupted, it results in the uncontrolled growth of cells, leading to the formation of tumors seen in TSC.

Research studies conducted by ClinicalTrialsgov and other scientific organizations aim to unravel the intricate details of TSC and develop effective treatment strategies. The studies explore various aspects of the condition, including potential therapies, management strategies, and long-term outcomes for individuals with TSC.

For additional information about TSC, patients and caregivers can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information about the genetic causes, inheritance patterns, and associated symptoms of various genetic disorders, including TSC.

In conclusion, ClinicalTrialsgov offers a wealth of information about research studies focused on TSC. It provides a platform for individuals to stay informed about ongoing studies, access patient resources, and learn about the latest scientific advancements in the field of Tuberous Sclerosis Complex.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on various genetic conditions, including Tuberous Sclerosis Complex (TSC).

TSC is a rare genetic disorder caused by mutations in either the TSC1 or TSC2 gene. These genes produce proteins called hamartin and tuberin, respectively, which play a crucial role in the regulation of cell growth and division.

When these genes are mutated, they fail to function properly, leading to uncontrolled cell growth and the formation of tumors. TSC primarily affects multiple organ systems, including the brain, eyes, heart, kidneys, skin, and lungs.

The OMIM catalog provides information on the inheritance pattern, frequency, and clinical features of TSC, as well as other rare diseases. It also includes references to scientific articles, research studies, and patient advocacy resources related to TSC and other conditions.

OMIM is an invaluable resource for healthcare professionals, researchers, and individuals seeking to learn more about TSC and other genetic disorders. It can help in identifying the genes and mutations that cause the condition, understanding its clinical manifestations, and exploring potential treatment options.

Moreover, OMIM serves as a centralized source of information and collaboration among researchers and healthcare professionals. It facilitates the sharing of knowledge, promotes research studies, and encourages the development of new therapies for rare genetic diseases.

In addition to OMIM, there are other resources available for learning about TSC, including PubMed, clinicaltrialsgov, and the Tuberous Sclerosis Complex Research Center in Seattle. These resources provide access to more articles, studies, and clinical trials related to TSC and its associated conditions.

Overall, the catalog of genes and diseases from OMIM offers a comprehensive and reliable source of information on TSC and other rare genetic disorders. It is an essential tool for understanding the causes, clinical features, and treatment options for these conditions.

Scientific Articles on PubMed

For this article, we will focus on the scientific articles available on PubMed that provide information about Tuberous Sclerosis Complex (TSC).

  • PubMed is a resource for accessing biomedical literature. It provides access to a vast collection of articles from various areas of research.
  • Seattle Children’s Tuberous Sclerosis Clinic- This clinic specializes in the diagnosis, treatment, and management of TSC.
  • TSC is a rare genetic condition that affects the growth of tumors in various organs, including the brain.
  • Tuberous Sclerosis Complex is caused by mutations in the TSC1 and TSC2 genes.
  • These genes produce proteins called hamartin and tuberin, respectively, which regulate cell growth and division.
  • When these proteins are not functioning properly, uncontrolled cell growth can occur, leading to the development of tumors.
  • The exact frequency of TSC is unknown, but it is estimated to occur in 1 in every 6,000 births.
  • The clinical presentation of TSC can vary greatly from patient to patient. Some individuals may have mild symptoms, while others may experience more severe manifestations.
  • TSC can be associated with additional medical conditions, such as epilepsy, intellectual disability, and autism spectrum disorder.
  • Research articles on PubMed provide valuable information about the causes, clinical features, and management of TSC.
  • There are ongoing clinical trials listed on ClinicalTrials.gov that investigate potential treatments for TSC.
  • Advocacy organizations and support groups, such as the Tuberous Sclerosis Alliance, provide resources and support for individuals and families affected by TSC.
  • The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic conditions. It contains information about TSC and the associated genes.
  • Genetic testing can be used to confirm a diagnosis of TSC and identify specific mutations in the TSC1 and TSC2 genes.

In conclusion, scientific articles on PubMed are a valuable resource for learning more about Tuberous Sclerosis Complex and the associated genes. They provide information about the causes, clinical features, and management of this rare genetic condition. Additional resources, such as clinical trials and advocacy organizations, can provide further support and information for individuals and families affected by TSC.

References

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