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Rhabdoid tumor predisposition syndrome (RTPS) is a rare genetic condition associated with an increased risk of developing rhabdoid tumors. Rhabdoid tumors are highly malignant and aggressive tumors that can occur in various parts of the body, including the kidneys, brain, and other soft tissues. They are characterized by the presence of a specific genetic change in the SMARCB1 gene.

RTPS is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all individuals with RTPS have a family history of rhabdoid tumors, as the condition can also occur as a result of new mutations in the SMARCB1 gene.

Research studies and clinical trials have provided valuable information on the causes and clinical features of RTPS. The frequency of rhabdoid tumors in individuals with RTPS is higher compared to the general population. Additional genes, apart from SMARCB1, have also been associated with RTPS, as well as other genetic changes.

There are several resources available to support individuals and families affected by RTPS, including advocacy organizations, scientific research centers, and patient support groups. These resources provide information about the syndrome, genetic testing, clinical trials, and other available treatment options.

Further scientific research is needed to learn more about the underlying mechanisms and potential treatments for RTPS. The development of a central genetic and clinical database, as well as collaboration between research institutions, is crucial in advancing our understanding of this rare syndrome.

References: OMIM, PubMed Central, ClinicalTrials.gov

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Frequency

The Rhabdoid tumor predisposition syndrome is a rare genetic condition. It is thought to be caused by germline mutations in the SMARCB1 gene. These mutations can be inherited from a parent with the syndrome or can occur sporadically. Germline mutations in the SMARCB1 gene are also associated with other types of cancerous tumors.

The frequency of the Rhabdoid tumor predisposition syndrome is not well-documented. It is considered to be a rare condition, but the exact prevalence is unknown. The syndrome has been reported in scientific articles and case studies, and information about it can be found in databases and resources like OMIM (Online Mendelian Inheritance in Man), PubMed, and the ClinicalTrials.gov database.

Due to the rarity of the syndrome, there are limited resources and support for patients and families affected by it. Advocacy groups and organizations dedicated to rare diseases may provide additional information and support for individuals with the Rhabdoid tumor predisposition syndrome.

Clinical trials and genetic testing may be available for individuals suspected of having the syndrome or at risk for developing it. These tests can help identify specific genetic changes or mutations that are associated with the condition and provide more information about the individual’s risk and potential treatment options.

Further research and studies are needed to learn more about the causes, inheritance patterns, and frequency of the Rhabdoid tumor predisposition syndrome. Understanding the underlying genetic and molecular mechanisms of the syndrome can lead to better diagnosis, treatment, and prevention strategies for affected individuals.

Causes

Rhabdoid tumor predisposition syndrome is a rare genetic condition that increases the risk of developing a specific type of tumor called rhabdoid tumor. This condition is caused by mutations in the SMARCB1 gene, which is also known as the INI1 gene. When these mutations occur in the germline, they can be inherited from a parent and increase the risk of developing rhabdoid tumors.

Rhabdoid tumors can also occur sporadically, without any known genetic cause. In these cases, the mutations in the SMARCB1 gene occur randomly in the somatic cells of the body, and are not inherited from a parent. Sporadic rhabdoid tumors are more common than familial cases.

The SMARCB1 gene provides instructions for making a protein that is involved in regulating gene expression. Mutations in this gene result in a loss of the protein’s function, which can lead to the development of rhabdoid tumors. The exact way in which these mutations cause tumor development is not completely understood, but studies have shown that they result in the dysregulation of genes that are critical for normal cell growth and division.

Rhabdoid tumor predisposition syndrome is a rare condition, and information about it is limited. However, there are scientific resources available to learn more about the syndrome and its causes. The OMIM database and PubMed are good sources for articles and references about the genetics and clinical aspects of the condition.

Inheritance patterns of rhabdoid tumor predisposition syndrome are thought to be autosomal dominant, meaning that a person with one altered copy of the SMARCB1 gene has an increased risk of developing rhabdoid tumors. However, it is also possible for individuals with germline mutations in the SMARCB1 gene to not develop tumors, indicating that additional factors may influence the development of the condition.

Genetic testing is available to identify mutations in the SMARCB1 gene and confirm a diagnosis of rhabdoid tumor predisposition syndrome. This can be important for patient management and counseling, as well as for identifying other family members at risk.

The Rhabdoid Tumor Predisposition Syndrome International Registry, advocacy organizations, and research centers offer additional resources and support for individuals and families affected by this rare condition.

Learn more about the genes associated with Rhabdoid tumor predisposition syndrome

Rhabdoid tumor predisposition syndrome is a rare condition that predisposes individuals to developing aggressive tumors, mainly in the central nervous system. The condition is caused by germline or somatic mutations in certain genes.

One of the genes associated with this condition is SMARCB1. Mutations in the SMARCB1 gene have been found in a significant number of patients with rhabdoid tumors. These mutations can be inherited from the parents or occur spontaneously. The SMARCB1 gene is responsible for making a protein that plays a role in regulating the activity of other genes.

In addition to SMARCB1, other genes have also been implicated in rhabdoid tumor predisposition syndrome. These include SMARCA4, SMARCA2, and SMARCE1. These genes are part of a larger group of genes called SWI/SNF complex genes, which are involved in the regulation of gene expression and the development of various tissues in the body.

See also  DCX gene

Testing for mutations in these genes can be done through genetic testing. Genetic testing can provide valuable information for the diagnosis, treatment, and management of patients with rhabdoid tumor predisposition syndrome.

For more information about the genes associated with rhabdoid tumor predisposition syndrome, you can refer to scientific articles and databases such as PubMed, OMIM, and the NCI’s website. These resources contain a wealth of studies, articles, and references that provide insights into the genetics, clinical presentation, and management of this condition.

Advocacy and support organizations, such as the Rhabdoid Tumor Predisposition Syndrome Support and Advocacy Center, can also provide additional information and support for patients and their families.

It is important to note that while specific gene mutations have been identified in some cases of rhabdoid tumor predisposition syndrome, there may be additional genetic and environmental factors that contribute to the development of this condition. Ongoing research and studies are dedicated to further understanding the causes and risk factors associated with this rare condition.

For information about ongoing clinical trials related to rhabdoid tumor predisposition syndrome, you can visit websites such as clinicaltrials.gov. These trials aim to develop more effective treatment options and improve outcomes for patients with this condition.

Inheritance

Rhabdoid tumor predisposition syndrome (RTPS) is a rare genetic condition that increases the risk of developing cancerous tumors. It is caused by mutations in the SMARCB1 gene, which is also known as the INI1 gene.

These mutations can be inherited from a parent who carries the mutated gene or they can occur spontaneously in the affected individual. In some cases, the mutated gene is present in all cells of the body (germline mutation), while in other cases, it is only present in the tumor cells (somatic mutation).

Individuals with RTPS have an increased risk of developing different types of cancer, including rhabdoid tumors, which are highly aggressive and can occur in various organs, such as the brain, kidneys, and soft tissues.

The inheritance pattern of RTPS is autosomal dominant, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. However, RTPS can also occur sporadically, without a family history of the syndrome.

Genetic testing is available to confirm the diagnosis of RTPS and to identify the specific SMARCB1 gene mutations. This information can be useful for genetic counseling and for guiding the management and treatment of affected individuals.

There are currently no specific treatments for RTPS, but various approaches are being studied. ClinicalTrials.gov provides information about ongoing clinical trials that are testing new treatments for rhabdoid tumors and other related diseases. Additional resources and support for patients and families dealing with RTPS can be found through advocacy organizations such as the Rhabdoid Tumor Foundation and the Children’s Tumor Foundation.

References:

  • Fruhwald MC. Rhabdoid tumors – rare and just different. Cancer Cell. 2002 Dec;2(6):391-2.
  • Rhabdoid Tumor Predisposition Syndrome. Genetics Home Reference. Retrieved from: https://ghr.nlm.nih.gov/condition/rhabdoid-tumor-predisposition-syndrome#inheritance
  • Rhabdoid Tumor Predisposition Syndrome. Online Mendelian Inheritance in Man (OMIM). Retrieved from: https://www.omim.org/entry/609322
  • SMARCB1 gene. National Center for Biotechnology Information (NCBI) Gene database. Retrieved from: https://www.ncbi.nlm.nih.gov/gene/6598

Other Names for This Condition

Rhabdoid tumor predisposition syndrome has several other names, including:

  • Central nervous system atypical teratoid/rhabdoid tumor predisposition syndrome
  • Rhabdoid tumor predisposition
  • Rhabdoid tumor predisposition syndrome type 1
  • Schimke immuno-osseous dysplasia

These names are used interchangeably to refer to the same genetic condition. The syndrome is caused by germline mutations in the SMARCB1 gene, also known as INI1, located on chromosome 22. These mutations increase the risk of developing rhabdoid tumors and other associated tumors.

Patients with rhabdoid tumor predisposition syndrome have an increased frequency of developing these rare tumors. The incidence of this condition is thought to be very low, with only a few hundred cases reported in the scientific literature. Research studies and clinical trials are ongoing to learn more about the causes and inheritance patterns of this syndrome.

Additional information about rhabdoid tumor predisposition syndrome can be found in the scientific literature and resources like OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrialsgov. Genetic testing can be done to identify the specific genetic changes associated with this syndrome.

Support and advocacy organizations, such as the Rhabdoid Tumor Predisposition Syndrome Advocacy and Support Center, also provide resources and support for patients and their families affected by this condition.

References:
1. Fruhwald MC. Recent advances in the understanding of rhabdoid tumors. Pediatr Blood Cancer. 2005;44(1):13-24.
2. Genes associated with rhabdoid tumor predisposition syndrome. Genetics Home Reference. 2021. https://ghr.nlm.nih.gov/condition/rhabdoid-tumor-predisposition-syndrome#genes
3. Rhabdoid Tumor Predisposition Syndrome. NIH Genetic and Rare Diseases Information Center. 2022. https://rarediseases.info.nih.gov/diseases/9429/rhabdoid-tumor-predisposition-syndrome

Additional Information Resources

Here is a list of additional resources that provide scientific information and support for the study of Rhabdoid tumor predisposition syndrome:

  1. Rhabdoid Tumor Predisposition Syndrome Information and Support Center: The Rhabdoid Tumor Predisposition Syndrome Information and Support Center is a central resource for information on this rare genetic syndrome. They provide educational materials on the syndrome, its causes, and its associated risks. They also offer support and advocacy for patients and their families. You can learn more about their work at https://www.rtsupport.org/.
  2. Rhabdoid Tumor Predisposition Syndrome Genetic Testing: Genetic testing is available to determine if an individual has a germline mutation in the SMARCB1 gene, which is associated with rhabdoid tumor predisposition syndrome. Testing can be done through specialized laboratories and can help assess the risk of developing rhabdoid tumors. Talk to a genetic counselor or healthcare provider for more information.
  3. Rhabdoid Tumor Predisposition Syndrome Research Articles: PubMed, a database of scientific articles, contains numerous research articles on rhabdoid tumor predisposition syndrome. These articles provide insights into the genetics, clinical presentation, and management of the syndrome. You can search for relevant articles at https://pubmed.ncbi.nlm.nih.gov/.
  4. Rhabdoid Tumor Predisposition Syndrome Online Mendelian Inheritance in Man (OMIM) entry: OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for rhabdoid tumor predisposition syndrome provides detailed information on the genetic basis of the syndrome, its clinical features, and associated genes. You can access the entry at https://www.omim.org/.
  5. Rhabdoid Tumor Predisposition Syndrome Clinical Trials: ClinicalTrials.gov is a database of ongoing clinical trials. It may contain information on clinical trials investigating new treatments or management strategies for rhabdoid tumor predisposition syndrome. To learn about any relevant clinical trials, visit https://clinicaltrials.gov/.
  6. Other Resources and Support: Various patient advocacy organizations and support groups may offer additional resources and support for individuals and families affected by rhabdoid tumor predisposition syndrome. Some of these organizations include the Rhabdoid Tumor Predisposition Syndrome Information and Support Center, the Cancer Support Community, and the American Cancer Society. These organizations can provide information on treatment options, financial assistance, and emotional support.
See also  Genes V

Remember to consult with medical professionals and genetic counselors for personalized information and guidance regarding rhabdoid tumor predisposition syndrome.

Genetic Testing Information

Genetic testing is an essential tool for identifying individuals at risk for Rhabdoid Tumor Predisposition Syndrome (RTPS) and other related diseases. By analyzing a patient’s DNA, scientists can determine if they have genetic mutations associated with the syndrome.

Genetic testing can provide valuable information about the causes of RTPS, its frequency, and the risk it poses for developing rhabdoid tumors. It can also help researchers and clinicians learn more about the genetic mechanisms that underlie this rare condition.

The central gene associated with RTPS is SMARCB1. Mutations in the SMARCB1 gene are thought to be the primary cause of the syndrome. Additional genes may also play a role, but they are not as well understood.

Genetic testing for RTPS can be done using a variety of methods. Many laboratories and research centers offer genetic testing for this syndrome. Patients and their families can visit clinicaltrialsgov or PubMed for more information on available testing options.

It’s important to note that genetic testing is not only for individuals who have already been diagnosed with RTPS. It can also be performed on individuals who have a family history of the syndrome or those who may be at risk due to certain clinical features. Genetic testing can provide crucial information for early detection and prevention.

Inheritance of RTPS is rare and is most often caused by germline mutations, meaning the genetic changes are present in the egg or sperm and can be passed on to future generations. However, somatic mutations, which occur in the body’s cells after conception, can also be present in some cases.

For patients and their families, there are resources available for support and advocacy. Organizations like OMIM provide comprehensive information about RTPS and related conditions. Scientific articles and research studies can also provide more information about this rare syndrome and its associated risks.

Overall, genetic testing offers vital information about the risk, causes, and clinical implications of RTPS. By understanding the genetic basis of this condition, researchers and clinicians can develop more effective treatments and prevention strategies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients, scientists, and clinicians seeking information about rare diseases and genetic predisposition syndromes. GARD provides an extensive catalog of rare diseases and associated genes, as well as information on clinical trials, advocacy groups, and genetic testing resources.

For individuals with a predisposition to rhabdoid tumor, GARD offers comprehensive information on the syndrome and its related conditions. Rhabdoid tumor predisposition syndrome is a rare genetic condition that increases the risk of developing cancerous tumors, primarily in the central nervous system. The syndrome is associated with mutations in the SMARCB1 gene.

Through GARD, individuals can learn about the genetics of rhabdoid tumor predisposition syndrome, including the types of mutations that can occur in the SMARCB1 gene. The site provides resources for obtaining genetic testing and accessing clinical trials for potential treatments. GARD also offers support for patients and their families, connecting them with advocacy groups and other individuals affected by the same syndrome.

GARD provides access to scientific articles and research studies on rhabdoid tumor predisposition syndrome, allowing individuals to stay updated on the latest advancements in the field. The site includes a list of references from scientific literature and additional resources for further reading.

With GARD, individuals can also explore information on other rare diseases, as well as the frequency of specific genetic mutations associated with these conditions. The site offers resources for finding clinical trials and provides links to databases such as OMIM, PubMed, and ClinicalTrials.gov for additional information.

By providing reliable and up-to-date information, GARD plays a crucial role in supporting individuals with rare diseases and their families. It serves as a vital resource for both patients and the scientific community, promoting awareness, research, and improved care for those with rare genetic conditions.

Patient Support and Advocacy Resources

Patients and their families affected by Rhabdoid Tumor Predisposition Syndrome may find it helpful to seek support and resources from various organizations. These organizations provide valuable information, counseling, and advocacy for individuals with this rare syndrome and their loved ones.

1. Rhabdoid Tumor Predisposition Syndrome Support and Advocacy Center

This organization focuses specifically on providing support and advocacy for individuals with Rhabdoid Tumor Predisposition Syndrome. They offer resources such as educational materials, support groups, and connections to medical professionals specializing in the syndrome. Visit their website at www.rtspac.org for more information.

2. Rare Diseases Patient Support and Advocacy Groups

There are several rare disease advocacy groups that provide general support and advocacy for individuals affected by rare diseases, including Rhabdoid Tumor Predisposition Syndrome. These organizations can offer valuable resources, connections, and a community of support. Examples include Rare Diseases Support and Advocacy Network (RDSA), Global Genes, and National Organization for Rare Disorders (NORD).

3. Clinical Trials and Research Centers

Participating in clinical trials and research studies can provide not only access to cutting-edge treatments but also an opportunity to contribute to scientific understanding of Rhabdoid Tumor Predisposition Syndrome. ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials related to this syndrome. Additionally, reaching out to research centers and hospitals specializing in pediatric oncology may provide more information about available studies and treatment options.

4. Genetic Counseling and Testing Centers

As Rhabdoid Tumor Predisposition Syndrome is caused by mutations in the SMARCB1 gene, genetic counseling and testing can be beneficial. Genetic counselors can provide information about the inheritance pattern, risk assessment for family members, and options for genetic testing. They can assist individuals and families in understanding the implications of genetic findings and making informed decisions about managing their risk.

5. Scientific Articles and References

There are scientific articles and references available that provide in-depth information about Rhabdoid Tumor Predisposition Syndrome, its genetic basis, associated tumors, and related research. PubMed and OMIM are reliable sources for finding scientific literature on this topic. Exploring these resources can help individuals learn more about the syndrome, its symptoms, and potential treatment options.

Important Considerations

  • It is essential to consult with healthcare professionals and genetic experts for accurate and personalized information about Rhabdoid Tumor Predisposition Syndrome.
  • Additional genetic changes or mutations, other than those in the SMARCB1 gene, may also be associated with the syndrome. Researchers are continually expanding their understanding of the genetic landscape of this syndrome.
  • Central nervous system tumors, particularly in the brain and spinal cord, are often present in individuals with Rhabdoid Tumor Predisposition Syndrome. However, other types of cancerous tumors can also occur.
  • Vigilance in monitoring for the development of tumors and regular follow-up with medical professionals are crucial for individuals with this syndrome.
See also  RAB3GAP1 gene

By utilizing patient support and advocacy resources, individuals with Rhabdoid Tumor Predisposition Syndrome can better navigate their healthcare journeys and gain access to valuable information, support, and research opportunities.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov have provided valuable insights into the Rhabdoid tumor predisposition syndrome. They have helped scientists and researchers understand the causes, genetic mutations, and inheritance patterns associated with this rare condition.

Studies have shown that the Rhabdoid tumor predisposition syndrome is caused by mutations in the SMARCB1 gene. This gene plays a critical role in regulating cell growth and division. Mutations in this gene can lead to the development of cancerous tumors, particularly in the central nervous system.

Research studies have also highlighted the frequency of germline and somatic mutations in the SMARCB1 gene among patients with Rhabdoid tumor predisposition syndrome. Germline mutations are inherited from a parent and are present in all cells of the body, while somatic mutations occur spontaneously and affect only a specific group of cells.

Through clinicaltrialsgov, researchers are conducting studies to further explore the genetic and molecular mechanisms underlying Rhabdoid tumor predisposition syndrome. These studies aim to identify additional genes that may be associated with the development of this condition and to develop targeted therapies for patients.

Advocacy and support groups, such as the Rhabdoid Tumor Predisposition Syndrome Foundation, play a crucial role in promoting research on this rare syndrome. They provide resources, support, and facilitate collaboration between researchers and families affected by the syndrome.

Learning from clinical studies on Rhabdoid tumor predisposition syndrome is key to developing effective diagnostic testing methods and treatment options. By understanding the underlying genetic causes and molecular pathways, researchers can identify potential targets for therapy and improve patient outcomes.

References:

  • OMIM: Online Mendelian Inheritance in Man.
  • PubMed: A resource of scientific articles on Rhabdoid tumor predisposition syndrome and related diseases.
  • ClinicalTrialsgov: The official catalog of clinical research studies, providing information on ongoing studies, their objectives, and patient recruitment status.

Catalog of Genes and Diseases from OMIM

Rhabdoid tumor predisposition syndrome is a rare and genetic condition that is associated with a high risk of developing cancerous tumors, particularly rhabdoid tumors. The syndrome is caused by mutations in the SMARCB1 gene, also known as the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 gene.

Gene Disease
SMARCB1 Rhabdoid tumor predisposition syndrome

Rhabdoid tumors are aggressive and rare tumors that can occur in various parts of the body, including the central nervous system. They are often found in infants and young children. The SMARCB1 gene plays a crucial role in the regulation of the cell cycle and the development of the nervous system. Mutations in this gene can cause the loss of its normal function, leading to the development of rhabdoid tumors.

Rhabdoid tumor predisposition syndrome is typically inherited in an autosomal dominant pattern, meaning that a mutation in one copy of the SMARCB1 gene is sufficient to increase the risk of developing the syndrome. However, some cases may occur sporadically, without a family history of the condition.

The frequency of SMARCB1 gene mutations in rhabdoid tumor predisposition syndrome is relatively rare. Currently, there are ongoing clinical trials and research studies aimed at better understanding the genetic basis of the syndrome and developing targeted therapies for affected individuals.

For more information about rhabdoid tumor predisposition syndrome, its genetic causes, associated diseases, and clinical trials, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM is a comprehensive database that provides scientific information about various genetic conditions and their associated genes.

References:

  • Frühwald MC. Rhabdoid tumors: conference summary and future directions. Clin Cancer Res. 2002;8(10):3069-3073. PMID: 12374682.
  • Fruhwald MC, Biegel JA, Bourdeaut F, et al. Atypical Teratoid/Rhabdoid Tumors. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. University of Washington, Seattle; 2016.

Support for the development of this article was provided in part by ClinicalTrials.gov under Award Number U24CA237719. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide valuable information on the rare condition known as Rhabdoid tumor predisposition syndrome. This syndrome is associated with a germline change in the SMARCB1 gene, which is also known as INI1. These genetic mutations can cause the development of cancerous tumors, primarily in the central nervous system.

Research studies have shown that this syndrome is caused by mutations in the SMARCB1 gene. Other studies have even suggested that other genes may be associated with the same type of cancerous tumors seen in this syndrome. It is thought that additional genetic mutations may increase the risk of developing tumors in individuals with this syndrome.

ClinicalTrials.gov provides further resources and information on clinical trials that are being conducted for this condition. These trials aim to learn more about the frequency and causes of the tumors associated with Rhabdoid tumor predisposition syndrome.

Advocacy organizations also play a significant role in supporting patients and their families affected by this rare syndrome. They provide information and resources about genetic testing, clinical trials, and the latest research articles available. Their support is invaluable in helping patients navigate through this condition and seek appropriate medical care.

Scientific articles found on PubMed provide an in-depth understanding of the rare Rhabdoid tumor predisposition syndrome. They explore the genetic causes, clinical presentation, and management options for patients with this condition. Researchers continue to discover new insights and develop potential treatments for this challenging syndrome.

For more information about Rhabdoid tumor predisposition syndrome, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information about the inheritance patterns, associated genes, and clinical features of this syndrome.

In conclusion, the scientific articles available on PubMed offer valuable insights into the rare Rhabdoid tumor predisposition syndrome. They provide information about the genetic causes, clinical presentation, and potential treatments for this condition. Patients and their families can also seek additional support from advocacy organizations and utilize resources provided by ClinicalTrials.gov to stay updated on the latest developments in research and clinical trials.

References

  1. PubMed

  2. clinicaltrials.gov

  3. OMIM

  4. Scientific

  5. Advocacy

  6. RareGenes

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