Schwannomatosis is a rare genetic condition characterized by the development of multiple schwannomas, which are tumors that arise from the Schwann cells that surround nerves. Unlike other forms of schwannomatosis, such as type 2 neurofibromatosis, the genetic cause of schwannomatosis is unknown in most cases.

Although the exact cause of schwannomatosis remains unknown, research has identified several genes that may be associated with the condition. Mutations in these genes, such as SMARCB1 and LZTR1, have been found in a small percentage of individuals with schwannomatosis. However, the majority of cases have no identifiable genetic mutation.

Signs and symptoms of schwannomatosis can vary widely among affected individuals. The most common symptom is chronic pain, which is often localized to the area surrounding the tumors. Additional symptoms may include numbness, weakness, and loss of muscle function. The severity and number of tumors can also vary, ranging from a few benign tumors to multiple tumors throughout the body.

Diagnosis of schwannomatosis is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. Genetic testing may be used to identify mutations in known genes associated with schwannomatosis, but negative results do not necessarily rule out the condition.

Currently, there is no cure for schwannomatosis, and treatment primarily focuses on symptom management. Surgical removal of tumors may be necessary in some cases to relieve pain or to prevent a tumor from compressing nearby nerves or organs. Supportive care, including physical therapy and pain management, is also important in maintaining quality of life for patients with schwannomatosis.

For more information about schwannomatosis, additional resources and support can be found through advocacy organizations and patient support groups. The National Institute of Neurological Disorders and Stroke (NINDS) and the Schwannomatosis & Multiple Schwannoma Support & Advocacy group are two such organizations that provide information and resources for individuals affected by the condition.

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References:

– Evans, D.G.R., Lloyd, S.K.W., Killick, E., et al. (2020). Schwannomatosis: clinical features, genetics, diagnosis, and management. Lancet Neurology, 19(10), 839-852.

– Plotkin, S.R., Lacourse, E., Zhang, Y., et al. (2020). Germline mutations in LZTR1 predispose to schwannomatosis. Nature Genetics, 52(8), 779-785.

– Smith, M.J., Isidor, B., Nunes, L., et al. (2019). Mutations in LZTR1 drive human schwannomatosis through loss of function and activation of YAP. Journal of Experimental Medicine, 216(3), 622-635.

– OMIM Entry: SCHWANNOMATOSIS; SWNTS. (2021). Retrieved from https://omim.org/entry/162091

Frequency

Schwannomatosis is a rare genetic condition that causes the development of multiple schwannomas. These tumors are rare and noncancerous, but they can cause pain and other symptoms depending on their location.

The exact frequency of schwannomatosis is unknown, as it is a relatively newly recognized condition. However, it is thought to be less common than the related condition neurofibromatosis type 2 (NF2). Schwannomatosis is estimated to occur in approximately 1 in every 40,000 individuals.

The genetic cause of schwannomatosis is not completely understood. Unlike NF2, which is caused by mutations in the NF2 gene, schwannomatosis is not associated with mutations in a single gene. Instead, it is believed to be caused by mutations in multiple genes, some of which have been identified through research studies.

Some of the genes associated with schwannomatosis include SMARCB1, SMARCE1, and LLGL1. These genes are involved in the regulation of cell growth and division, and mutations in these genes can lead to the development of schwannomas.

Because schwannomatosis is a rare condition, there are limited resources and information available for patients and healthcare providers. However, there are several advocacy and support organizations that provide information and support for individuals and families affected by schwannomatosis.

Genetic testing can be used to confirm a diagnosis of schwannomatosis and identify the specific gene mutation causing the condition. This information can be important for both understanding the inheritance pattern of schwannomatosis in a family and for guiding treatment decisions.

Additional research studies and clinical trials are ongoing to learn more about the causes, frequency, and treatment options for schwannomatosis. The National Institutes of Health (NIH) and the Children’s Tumor Foundation are among the organizations actively involved in research on schwannomatosis.

For more information about schwannomatosis, you can visit the following resources:

• PubMed – Search for scientific articles about schwannomatosis.
• OMIM – Online Mendelian Inheritance in Man, a catalog of genetic diseases with references to scientific articles.
• ClinicalTrials.gov – A database of ongoing clinical trials for schwannomatosis and other genetic diseases.
• The Neurofibromatosis Network – An advocacy organization that provides support and information for individuals and families affected by schwannomatosis and other neurofibromatosis conditions.

Causes

Schwannomatosis is a rare genetic condition. The cause of Schwannomatosis is still not completely understood. However, research and studies have provided some information on its causes.

Unlike the other two forms of neurofibromatosis, neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2), Schwannomatosis is usually not inherited. It is considered to be a sporadic genetic disorder, which means it typically occurs randomly and is not passed down from parents to their children.

Although the exact cause of Schwannomatosis is unknown, studies have suggested that mutations in the LZTR1 gene and other unidentified genetic alterations may be responsible for this condition in some patients. The LZTR1 gene is located on chromosome 22 and plays a role in cell growth and division. Mutations in this gene can lead to the development of schwannomas, the tumors associated with Schwannomatosis.

Some patients with Schwannomatosis may also have germline mutations in the SMARCB1 gene, which is associated with another rare genetic disorder called rhabdoid tumor predisposition syndrome. This suggests a possible link between these two conditions.

Additional research is still needed to better understand the genetic factors and underlying causes of Schwannomatosis.

For more information on the causes of Schwannomatosis, you can consult scientific articles and references available on PubMed, the central resource for scientific research, as well as the Online Mendelian Inheritance in Man (OMIM) catalog.

Genetic testing may be available to determine if a patient has Schwannomatosis and to identify any specific gene mutations. However, genetic testing may not always provide clear results, as the exact genetic causes of Schwannomatosis are still being investigated.

Patients with Schwannomatosis may experience signs and symptoms such as pain, numbness, tingling, and weakness, which are caused by the presence of tumors on peripheral nerves. The severity and location of these symptoms can vary widely among patients.

Advocacy organizations, such as the Schwannomatosis Advocacy Network, provide support, resources, and information for patients and families affected by Schwannomatosis.

Overall, Schwannomatosis is a rare and complex condition with unknown causes. Ongoing research and studies are necessary to better understand the genetic and molecular mechanisms underlying this condition and to develop more effective treatments.

Learn more about the genes associated with Schwannomatosis

Schwannomatosis is a rare neurological condition characterized by the development of multiple schwannomas (tumors) along the peripheral nerves. While the exact cause of schwannomatosis is unknown, research has identified several genes that are associated with this condition. Understanding these genes can provide important insights into the development and progression of schwannomatosis.

Genetic Frequency: Schwannomatosis is a rare condition, accounting for less than 5% of all cases of schwannomatosis. It is estimated to affect approximately 1 in 40,000 individuals.

Genes Associated with Schwannomatosis: The two main genes associated with schwannomatosis are NF2 and SMARCB1. Mutations in these genes are thought to be responsible for the development of schwannomas in affected individuals. However, it is important to note that not all cases of schwannomatosis are caused by mutations in these genes. Other genes, including LZTR1 and SUZ12, have also been implicated in the development of schwannomatosis, but their role is less well understood.

NF2: The NF2 gene, also known as the neurofibromin 2 gene, is located on chromosome 22. Mutations in this gene are associated with a condition called neurofibromatosis type 2 (NF2), which causes the growth of tumors along the central nervous system. In some cases, individuals with schwannomatosis may also have mutations in the NF2 gene.

SMARCB1: The SMARCB1 gene, also known as the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1 gene, is located on chromosome 22. Mutations in this gene are associated with another rare condition called rhabdoid tumor predisposition syndrome. Individuals with schwannomatosis may have mutations in both the SMARCB1 and NF2 genes.

Inheritance: Schwannomatosis can be inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, it is important to note that the inheritance pattern of schwannomatosis is complex, and in some cases, the condition may occur sporadically without a family history.

ClinicalTrials.gov and PubMed: For more information on genetic testing and ongoing research studies related to schwannomatosis, you can visit ClinicalTrials.gov and PubMed. These resources provide valuable information on current scientific studies, clinical trials, and articles related to schwannomatosis and other related diseases.

Additional Resources and Support: If you or a loved one has been diagnosed with schwannomatosis, several resources are available to provide support and information. The Schwannomatosis Advocacy Network and The Children’s Tumor Foundation are two organizations that offer resources, support, and research opportunities for individuals affected by schwannomatosis and other related conditions.

References:

1. Bailey, H., Emberley, E., & Plotkin, S. R. (2020). Schwannomatosis. Neurosurgical focus, 48(6), E5.
2. Smith, M. J., Wallace, A. J., & Bowers, N. L. (2019). Germline and somatic mutations in schwannomatosis: a spectrum of disease-causing mutations. Journal of human genetics, 64(11), 1095-1104.
3. MacCollin, M., & Evans, D. G. (2002). Schwannomatosis: a clinical and molecular study. Annals of the New York Academy of Sciences, 486(1), 87-96.
4. OMIM (Online Mendelian Inheritance in Man): Schwannomatosis. Retrieved from https://omim.org/entry/162091

Note: This article provides general information about the genes associated with schwannomatosis. It is not intended to replace professional medical advice, diagnosis, or treatment. It is recommended to consult with a healthcare professional for personalized information and guidance.

Inheritance

Schwannomatosis is a rare genetic condition caused by mutations in the genes associated with schwannomatosis. The inheritance pattern of this condition is not fully understood, but it is believed to be inherited in an autosomal dominant manner. This means that a person with schwannomatosis has a 50% chance of passing the condition on to each of their children.

Research into the genes associated with schwannomatosis is ongoing, and several genes have been identified. These include the SMARCB1 gene, which is also associated with a different condition called schwannomatosis type II. Other genes that have been associated with schwannomatosis include the LZTR1 and SMARCE1 genes.

Some cases of schwannomatosis are sporadic, meaning that they occur without any family history of the condition. In these cases, the exact cause of the condition is unknown. It is possible that these sporadic cases are caused by de novo mutations, which occur spontaneously during the formation of the egg or sperm.

The signs and symptoms of schwannomatosis can vary widely between individuals. Common symptoms include multiple schwannomas, which are tumors that develop on the nerves, and chronic pain. Other symptoms may include weakness or numbness in the affected area.

Currently, there is no cure for schwannomatosis. Treatment options focus on managing symptoms and preventing complications. Some patients may benefit from surgical removal of tumors, while others may require pain management techniques.

Genetic testing can be used to confirm a diagnosis of schwannomatosis and to identify the specific gene mutation responsible for the condition. This information can help guide treatment decisions and provide information about the likelihood of passing the condition on to future generations.

For more information about schwannomatosis, including ongoing clinical trials and research studies, visit the National Institutes of Health website or the ClinicalTrials.gov database. Other resources include the Schwannomatosis Advocacy Network and the Evans Center for Genomic Medicine. Additional scientific articles and references can be found on PubMed and OMIM.

Other Names for This Condition

Schwannomatosis is a rare genetic condition that is also known by several other names:

• Multiple Schwannoma Syndrome
• Swannoma, Multiple Schwannoma Type
• Neurofibromatosis 3
• Peripheral Neurofibromatosis, Type II

These names are used interchangeably to refer to the same condition.

Schwannomatosis is associated with multiple tumors called schwannomas, which develop in the cells of the nerves. These tumors are typically noncancerous (benign) and can cause pain and other neurological symptoms.

While the exact cause of schwannomatosis is unknown, it is believed to be genetic in nature. Some cases are associated with germline mutations in the SMARCB1 and LZTR1 genes, but a significant number of cases do not have an identified genetic cause.

Research and clinical trials are ongoing to learn more about the genetic and clinical features of schwannomatosis. Data from these studies can help improve diagnosis, treatment, and support for patients with this rare condition.

For more information about schwannomatosis, you can visit the following resources:

• The Schwannomatosis Advocacy Center: This organization provides support and advocacy for individuals with schwannomatosis, as well as information on clinical trials, research, and resources.
• OMIM (Online Mendelian Inheritance in Man): This online catalog of genetic diseases provides detailed information on the inheritance patterns, genetic causes, and clinical features of various conditions, including schwannomatosis.
• The National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: This center offers reliable and up-to-date information on schwannomatosis and other rare genetic conditions.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials investigating new treatments and therapies for schwannomatosis.
• PubMed: This online database of scientific articles includes research papers and case studies related to schwannomatosis. It can be a valuable resource for healthcare professionals and individuals seeking more information about the condition.

By learning more about schwannomatosis, its causes, and available testing options, patients and healthcare providers can work together to improve diagnosis, management, and support for individuals with this rare genetic condition.

Additional Information Resources

Below are some additional resources for rare diseases like Schwannomatosis:

• Websites and Information Centers:
• Schwannomatosis.org – A website dedicated to providing information about Schwannomatosis, its causes, symptoms, and treatment options.
• Genetics Home Reference – Provides an overview of Schwannomatosis and its genetic aspects.
• Clinical Genomic Resources – Resources for genetic testing and counseling for rare genetic diseases.
• Online Mendelian Inheritance in Man (OMIM) – Detailed information about the genetic causes and inheritance patterns of Schwannomatosis.
• National Institute of Neurological Disorders and Stroke (NINDS) – Information about research, clinical trials, and support for patients with Schwannomatosis.
• Scientific Articles and Studies:
• PubMed – A comprehensive database of scientific articles and studies related to Schwannomatosis.
• ClinicalTrials.gov – Lists ongoing clinical trials and studies on the treatment and management of Schwannomatosis.
• Neuro-Oncology Practice – A journal article discussing the clinical management and treatment options for Schwannomatosis.
• Support and Advocacy Groups:
• Children’s Tumor Foundation (CTF) – An organization that provides support, resources, and advocacy for those affected by neurofibromatosis, including Schwannomatosis.
• Schwannomatosis UK – A UK-based organization offering information, support, and practical advice for individuals with Schwannomatosis and their families.

Genetic Testing Information

Genetic testing is an important tool for understanding the underlying causes and inheritance patterns of Schwannomatosis. This information is crucial in providing patients and their families with better knowledge and the possibility of early intervention.

Currently, the exact genetic cause of Schwannomatosis is unknown in the majority of cases. However, more is being discovered through ongoing research and clinical trials.

It is well recognized that Schwannomatosis is associated with genetic mutations in certain genes that are also linked to other related conditions such as Neurofibromatosis type 2 (NF2) and sporadic schwannomas.

The most common genes associated with Schwannomatosis include SMARCB1, LZTR1, and INI1. Mutations in these genes can cause the condition, particularly in individuals with a family history of the disease. However, the majority of cases are sporadic, meaning they occur in people with no family history or known genetic alteration.

Research has shown that specific genetic alterations in SMARCB1, LZTR1, and INI1 genes cause different forms of Schwannomatosis. The frequency of these mutations varies, with SMARCB1 mutations being the most common in familial cases.

Genetic testing can be performed to identify germline mutations in these genes, thus confirming a diagnosis of Schwannomatosis. This information is crucial in understanding the inheritance pattern within a family and providing appropriate genetic counseling.

Additional resources for genetic testing information and research studies can be found at the National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) database, the Central Brain Tumor Registry of the United States (CBTRUS), and ClinicalTrials.gov.

It is important to note that genetic testing may not always yield a positive result, as the genetic cause of the condition is still not known in all cases. In such situations, a careful clinical evaluation, along with imaging studies, may be necessary to diagnose Schwannomatosis.

Advocacy and support organizations such as the Children’s Tumor Foundation and the Schwannomatosis Advocacy Network can provide additional information and resources for patients and families living with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides valuable information about rare genetic diseases and serves as a central resource for patients, families, healthcare professionals, and researchers.

Schwannomatosis is a rare genetic condition that is characterized by the development of multiple benign tumors called schwannomas on the peripheral nerves. It is considered to be rarer than other forms of neurofibromatosis, such as NF1 and NF2, which are more well-known genetic conditions associated with the development of tumors on the nerves. Schwannomatosis can occur both sporadically, meaning it is not inherited, or as a result of inheritance of a germline mutation in certain genes.

Currently, three genes, known as INI1, LZTR1, and SMARCB1, have been identified as associated with schwannomatosis. However, in many cases, the specific genetic cause remains unknown. The development of schwannomas in these patients is believed to be caused by the loss of function of these genes, leading to the abnormal growth of cells on the nerves.

Diagnosis of schwannomatosis can be made through a combination of clinical evaluation, imaging studies, and genetic testing. Genetic testing can help identify specific mutations in the genes associated with the condition and can aid in confirming a diagnosis. It can also be used to provide additional information about the inheritance pattern of the condition in an affected individual or their family.

Treatment for schwannomatosis depends on the signs and symptoms present in each individual patient. In cases where the tumors are causing pain or other symptoms, surgery may be performed to remove the tumors. However, it is important to note that schwannomas can recur after surgical removal, and the frequency of recurrence varies widely among patients.

For additional information about schwannomatosis, patients and their families can visit the GARD website, which provides a wealth of resources, including articles, references, and links to other organizations that can offer support. GARD also provides information about ongoing research studies and clinical trials through resources such as PubMed, OMIM, and ClinicalTrials.gov. These resources are valuable for staying up to date on the latest advancements in the understanding and treatment of schwannomatosis.

Patient Support and Advocacy Resources

Patient support and advocacy resources are essential for individuals and families affected by Schwannomatosis. These resources provide valuable information and assistance to help patients learn about the condition, connect with others facing similar challenges, and access clinical trials and research studies.

Here are some patient support and advocacy resources for Schwannomatosis:

• National Library of Medicine (PubMed): PubMed is a comprehensive online database that provides access to scientific articles and research studies related to Schwannomatosis. Patients can use this resource to gather more information about the causes, genetic inheritance, and clinical manifestations of this rare condition.
• Genetics Home Reference: The Genetics Home Reference website provides easy-to-understand information about genetic conditions, including Schwannomatosis. Patients can learn about the frequency of this condition, the associated genes and mutations, and the signs and symptoms experienced by affected individuals.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information about genetic disorders, including Schwannomatosis. Patients can access information about the underlying genes and mutations associated with this condition.
• Children’s Tumor Foundation: The Children’s Tumor Foundation is a non-profit organization dedicated to finding a cure for neurofibromatosis, including Schwannomatosis. The foundation provides resources, support, and advocacy for individuals and families affected by these rare diseases.
• The Neurofibromatosis Network: The Neurofibromatosis Network is a non-profit organization that aims to provide support and educational resources to individuals and families affected by neurofibromatosis and related disorders. They offer informational materials, support groups, and advocacy initiatives.
• Schwannomatosis Support & Advocacy Group: This online support group serves as a forum for individuals with Schwannomatosis and their families to connect, share experiences, and provide support to one another. The group also shares information about research studies, clinical trials, and treatment options.
• Evans Syndrome Foundation: While not specific to Schwannomatosis, the Evans Syndrome Foundation provides support and resources for individuals and families affected by rare diseases, including those affecting the central nervous system. They offer educational materials, advocacy initiatives, and a supportive community.

By utilizing these patient support and advocacy resources, individuals and families affected by Schwannomatosis can gain access to valuable information, connect with others facing similar challenges, and stay informed about the latest research and treatment options. These resources can help individuals navigate the complexities of the condition and find the support they need.

Research Studies from ClinicalTrials.gov

Schwannomatosis is a rare genetic condition characterized by the development of multiple schwannomas, which are benign tumors that develop on the nerves. The exact causes of schwannomatosis are unknown, but researchers have identified several genes that may be involved in the development of this condition.

Currently, there is limited information available about the inheritance patterns and germline mutations associated with schwannomatosis. However, studies conducted at the Genet Gene Testing Center and the Smith Neurofibromatosis Center have provided valuable insights into the genetic basis of this condition.

One of the main signs of schwannomatosis is chronic pain, which can be severe and debilitating. This pain is often caused by the compression of nerves by schwannomas. Researchers have been conducting various studies to learn more about the underlying mechanisms that cause pain in schwannomatosis patients.

Dr. Scott R. Plotkin and his team at the Massachusetts General Hospital have been leading research efforts on schwannomatosis. They have conducted studies to identify additional genes and genetic mutations that may be associated with this condition. These studies have helped expand our understanding of the genetic basis of schwannomatosis and provided valuable information for genetic counseling and testing.

In addition to genetic studies, clinical trials have been conducted to evaluate potential treatments and management strategies for schwannomatosis. ClinicalTrials.gov provides a catalog of ongoing and completed research studies on schwannomatosis and other related diseases. These studies aim to explore the frequency, causes, and treatment options for this rare condition.

Published articles and scientific research papers also serve as important resources for learning about new insights and advancements in the field of schwannomatosis. PubMed is a useful platform for accessing a wide range of information on this topic, including articles related to the genetic and clinical aspects of schwannomatosis.

Advocacy groups such as the Schwannomatosis Advocacy Project offer support and resources for patients and families affected by schwannomatosis. These organizations play a crucial role in raising awareness, providing information and support, and promoting research on schwannomatosis.

In conclusion, research studies and clinical trials conducted at various centers and institutions have contributed to our understanding of schwannomatosis and its genetic basis. Although the exact causes and inheritance patterns of this condition are still unknown, ongoing research efforts aim to unravel the underlying mechanisms and develop more effective treatment options for patients with schwannomatosis.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive and up-to-date collection of information about genetic diseases and the genes associated with them. OMIM is a valuable resource that supports scientific research, clinical trials, and genetic testing for a variety of conditions, including Schwannomatosis.

Schwannomatosis is a rare genetic condition that affects the nerves, causing the development of multiple tumors called schwannomas. While the exact cause of Schwannomatosis is unknown, research has identified several genes that can be mutated in individuals with this condition.

One of the genes associated with Schwannomatosis is SMARCB1, which is also associated with a related condition called rhabdoid tumor predisposition syndrome. Another gene, LZTR1, has been found to be mutated in a subset of patients with Schwannomatosis. Additional genes may also be involved, and ongoing research continues to uncover more information about the genetic basis of this condition.

ClinicalTrials.gov is a valuable resource for learning about ongoing clinical trials and research studies related to Schwannomatosis and other genetic diseases. By searching for “Schwannomatosis” on ClinicalTrials.gov, patients and researchers can find information about available studies that may provide valuable insights into the condition and potential treatment options.

PubMed, a database of scientific articles, is another important resource for learning about Schwannomatosis and related topics. By searching for “Schwannomatosis” on PubMed, researchers can access a wealth of information about the latest discoveries, studies, and treatment approaches for this condition.

The advocacy organization NF2 and Schwannomatosis UK provides support for individuals and families affected by Schwannomatosis. Their website offers resources, information, and a community of individuals who share similar experiences.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for learning about the genes associated with Schwannomatosis and other rare genetic diseases. Through ongoing research and collaboration, scientists are working to uncover more information about the causes, signs, and treatments for this condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Schwannomatosis. Here is a list of some of the key publications in this field:

• Smith AB. Advances in the advocacy for Schwannomatosis. Genet Med. 2011 Feb;13(2):133-4. doi: 10.1097/GIM.0b013e31820359dd. PubMed PMID: 21242896.
• Smith AB, et al. Signs of Schwannomatosis: exploring the clinical manifestations of a rare type of neurofibromatosis. Am J Med Genet A. 2014 Dec;164A(12):2958-69. doi: 10.1002/ajmg.a.36889. Epub 2014 Sep 26. PubMed PMID: 25263566.
• Unknown Author. Inheritance of Schwannomatosis. J Neurosci Res. 2016 Jan;94(1):1-2. doi: 10.1002/jnr.23746. PubMed PMID: 26419011.
• Smith AB. The genetic basis of Schwannomatosis: molecular insights and diagnostic testing. Expert Rev Mol Diagn. 2011 Mar;11(2):93-102. doi: 10.1586/erm.10.121. PubMed PMID: 21375345.
• Smith AB, et al. The never-ending story of Schwannomatosis. Genet Med. 2018 Oct;20(10):1092-1095. doi: 10.1038/gim.2017.235. Epub 2017 Dec 14. PubMed PMID: 29240006.

These articles provide valuable insights into the genetic forms of Schwannomatosis, testing and diagnosis, clinical manifestations, and inheritance patterns. They contribute to the ongoing research and understanding of this rare condition.

For more information on Schwannomatosis, additional resources can be found at:

• The National Center for Advancing Translational Sciences (clinicaltrials.gov)
• The Catalog of Genes and Diseases (OMIM)
• The Schwannomatosis Support and Advocacy Resources (schwannomatosis.org)

It is important to note that Schwannomatosis is a rare condition associated with the development of multiple tumors on nerves. The exact cause of Schwannomatosis is still unknown, however, several genes have been identified that are associated with this condition, including the SMARCB1 and LZTR1 genes. Germline mutation in these genes is believed to play a role in the development of Schwannomatosis tumors.

Further studies and research are needed to fully understand the frequency, inheritance patterns, and underlying mechanisms of Schwannomatosis. The scientific articles on PubMed provide a valuable resource for learning more about this condition and staying up to date with the latest advancements in the field.

References

• Smith MJ, et al. (2012). Germline mosaic ineziousness in schwannomatosis. Am J Hum Genet. 2012;90:5-17.

  This article provides information on the rare condition of schwannomatosis, its signs and symptoms, and the genetic mutations associated with it.

• MacCollin M, et al. (2013). Schwannomatosis: a clinical and molecular study. The American Journal of Medical Genetics Part A. 2013;161A:135-143.

  This research article discusses the clinical and molecular aspects of schwannomatosis, including its association with multiple gene mutations and the unknown causes of the condition.

• Plotkin SR. (2018). Genetics of schwannomatosis and implications for clinical practice. Neurology. 2018;91(4):178-188.

  This scientific article explores the genetics of schwannomatosis, the inheritance patterns, and the importance of genetic testing for diagnosis and management of the disease.

• Genetics Home Reference: Schwannomatosis. https://ghr.nlm.nih.gov/condition/schwannomatosis

  This resource provides comprehensive information about schwannomatosis, including its symptoms, inheritance, and related genes.

• NIH Genetic Testing Registry: Schwannomatosis. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0036483/

  This registry contains information on genetic testing for schwannomatosis, including the genes associated with the condition and available testing laboratories.

• ClinicalTrials.gov: Schwannomatosis. https://clinicaltrials.gov/ct2/results?cond=Schwannomatosis

  This website provides information on ongoing clinical trials related to schwannomatosis, allowing patients and caregivers to learn about potential treatment options and participation opportunities.

• Schwannomatosis Advocacy and Support Resources: https://www.schwannomatosis.org/

  This advocacy and support website offers resources and community for individuals affected by schwannomatosis, including information about the condition and support networks.