Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is characterized by the development of noncancerous tumors called hamartomas. Although this condition is rare, studies have shown that it is often associated with additional genetic abnormalities and can have a significant impact on a patient’s health and quality of life.

The exact cause of Bannayan-Riley-Ruvalcaba syndrome is not well understood. However, scientific research has identified mutations in the PTEN gene as one of the main underlying causes of this condition. Mutations in the PTEN gene are also known to be associated with other genetic conditions, such as Bannayan-Zonana syndrome and Cowden syndrome. Through genetic testing, researchers have been able to identify specific genes and mutations that are linked to BRRS, providing important insights into the inheritance and genotype-phenotype correlations of this rare condition.

ClinicalTrials.gov and PubMed are valuable resources for finding more information about Bannayan-Riley-Ruvalcaba syndrome. These databases offer a wealth of scientific articles, clinical trials, and reference materials that can help healthcare professionals and patients learn more about the genetic causes, clinical features, treatment options, and management strategies for this rare condition. Additionally, advocacy and support groups, such as the Bannayan-Riley-Ruvalcaba Syndrome Foundation, provide important resources and assistance for individuals and families affected by BRRS.

It is important to note that Bannayan-Riley-Ruvalcaba syndrome is a rare condition, with a frequency estimated to be less than 1 in 1,000,000 individuals. As such, there is a limited amount of research and information available on this genetic disorder. However, ongoing research and advancements in genetic testing and treatment options are providing hope for patients with BRRS and other rare genetic conditions, as scientists and healthcare professionals work towards a better understanding of these disorders.

In conclusion, Bannayan-Riley-Ruvalcaba syndrome is a rare genetic condition characterized by the development of noncancerous tumors called hamartomas. Scientific research, genetic testing, and resources such as ClinicalTrials.gov and PubMed are playing a crucial role in advancing our understanding of this condition and providing healthcare professionals and patients with the information and support they need. By continuing to learn more about rare genetic conditions, we can work towards better diagnosis, treatment, and management strategies for patients affected by Bannayan-Riley-Ruvalcaba syndrome and other similar syndromes.

Frequency

The Bannayan-Riley-Ruvalcaba syndrome is a rare genetic condition. According to OMIM (Online Mendelian Inheritance in Man), the syndrome is also known as Bannayan-Zonana syndrome, and it is associated with the PTEN gene. It is estimated that less than 1 percent of individuals with Bannayan-Zonana syndrome have cancerous tumors, while the majority have noncancerous growths called hamartomas.

The frequency of Bannayan-Riley-Ruvalcaba syndrome is currently unknown, as it is a rare condition. However, studies have suggested that it may be underdiagnosed due to its overlap in symptoms with other syndromes and conditions.

Genetic testing can help confirm the diagnosis of Bannayan-Riley-Ruvalcaba syndrome. This testing can identify mutations in the PTEN gene, which is the known cause of the condition. There are several resources available for genetic testing, including research centers and clinical trials (such as clinicaltrials.gov).

Additional information about the frequency and inheritance patterns of Bannayan-Riley-Ruvalcaba syndrome can be found in scientific articles and publications. PubMed, a database of scientific literature, is a useful resource to learn more about this condition and its associated genes. There are advocacy organizations and support groups that provide resources and support for patients and families affected by Bannayan-Riley-Ruvalcaba syndrome, such as the PTEN Hamartoma Tumor Syndrome Foundation.

Causes

The Bannayan-Riley-Ruvalcaba syndrome is a rare genetic condition characterized by the development of noncancerous tumors called hamartomas. Although the exact cause of this syndrome is not yet clear, scientific studies suggest that it is associated with mutations in the PTEN gene.

The PTEN gene is responsible for producing a protein that helps regulate cell growth and division. Mutations in this gene can disrupt the normal functioning of cells, leading to the development of hamartomas in various parts of the body.

According to the Bannayan-Zonana Syndrome Genetic Support Group, the frequency of PTEN gene mutations in patients with Bannayan-Riley-Ruvalcaba syndrome is estimated to be around 60-80%. It is important to note that not all patients with the syndrome have identifiable PTEN gene mutations, suggesting that there may be other genes or genetic factors contributing to the development of this condition.

Additionally, the Bannayan-Riley-Ruvalcaba syndrome may also have an autosomal dominant inheritance pattern, which means that a mutated PTEN gene can be passed down from one affected parent to their children. However, in some cases, the syndrome may occur sporadically without a family history of the condition.

It is important for individuals with Bannayan-Riley-Ruvalcaba syndrome to undergo genetic testing to confirm a diagnosis and to provide information on the specific genetic changes present. This can help determine appropriate management strategies and provide valuable information for genetic counseling.

For more information on the causes of the Bannayan-Riley-Ruvalcaba syndrome, you can refer to the following resources:

PubMed – a database of scientific articles
Genetics Home Reference – resources for learning about genetic conditions
Hodgson, S.V., et al. “The genotype-phenotype correlations of Bannayan-Riley-Ruvalcaba syndrome.” Genet Med. 2010 – a scientific study on the genotype-phenotype correlations of Bannayan-Riley-Ruvalcaba syndrome
Parisi, M.A., and Dasouki, M.J. “A case report and literature review of the PTEN mutation spectrum in Bannayan-Riley-Ruvalcaba syndrome.” Am J Med Genet A. 2004 – a case report and literature review on the PTEN mutation spectrum in Bannayan-Riley-Ruvalcaba syndrome
ClinicalTrials.gov – a database of clinical trials for research and support opportunities
OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
Advocacy and support groups for Bannayan-Riley-Ruvalcaba syndrome
More scientific articles and research studies on the condition

Learn more about the gene associated with Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome is a rare genetic condition characterized by multiple hamartomas and an increased risk of developing certain tumors.

The genetic cause of Bannayan-Riley-Ruvalcaba syndrome is mutations in the PTEN gene. PTEN stands for Phosphatase and Tensin Homolog, a gene that plays a critical role in regulating cell growth and division. Mutations in this gene can disrupt its normal function, leading to the development of various symptoms associated with Bannayan-Riley-Ruvalcaba syndrome.

The PTEN gene is located on chromosome 10q23.3 and is inherited in an autosomal dominant manner. This means that an affected individual has a 50 percent chance of passing on the mutated gene to each of their children.

Although Bannayan-Riley-Ruvalcaba syndrome is the most well-known name for this condition, it is also referred to by other names such as Bannayan-Zonana syndrome and Ruvalcaba-Myhre-Smith syndrome.

To learn more about PTEN and its associated conditions, you can refer to various genetic databases and resources. The National Center for Biotechnology Information’s GeneTests and OMIM (Online Mendelian Inheritance in Man) provide extensive information on the PTEN gene and related diseases. PubMed, a database of scientific articles, is also a valuable resource for research on this gene and its role in various conditions.

In addition to genetic testing, clinical examinations, and imaging studies such as ultrasound and MRI, can be used to help diagnose Bannayan-Riley-Ruvalcaba syndrome. These tests can identify the presence of hamartomas and other characteristic features associated with the syndrome.

Patients with Bannayan-Riley-Ruvalcaba syndrome can also benefit from participating in clinical trials. ClinicalTrials.gov is a comprehensive database that provides information on ongoing trials and studies related to Bannayan-Riley-Ruvalcaba syndrome and other genetic conditions.

Advocacy organizations and patient support groups can also provide additional information and resources for individuals and families affected by Bannayan-Riley-Ruvalcaba syndrome. These groups can offer support, education, and advocacy on behalf of individuals with this rare condition.

References:

Hodgson, S. V., et al. (1998). Bannayan-Riley-Ruvalcaba syndrome: A cause of extreme macrocephaly and neurodevelopmental delay. Pediatrics, 102(2), E19.
Parisi, M. A. (2007). PTEN mutations in human disease. Adult and pediatric clinics of North America, 54(3), 403-427.
Dasouki, M., et al. (2019). Know PTEN (PHTS) Genetic Testing: Advantages and Limitations. Frontiers in pediatrics, 7, 4.

Inheritance

The Bannayan-Riley-Ruvalcaba syndrome is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children. The syndrome is caused by mutations in the PTEN gene, which is located on chromosome 10. These mutations result in the production of a faulty PTEN protein, leading to the development of the characteristic features of the syndrome.

Other Names for This Condition

Bannayan-Zonana syndrome
BZR syndrome
Hodgson disease
Macrocephaly, multiple lipomas, and hemangiomata
MYHOMA syndrome
Ruvalcaba-Myhre syndrome
Ruvalcaba syndrom
Ruvalgrave syndrome
THH syndrome

Additional Information Resources

The Bannayan-Riley-Ruvalcaba syndrome is a rare genetic condition characterized by the development of hamartomas, which are noncancerous tumors, in various parts of the body. The syndrome is named after the three physicians who first described it: Bannayan, Zonana, and Ruvalcaba.

Genetic testing can confirm a diagnosis of Bannayan-Riley-Ruvalcaba syndrome. The Bannayan-Riley-Ruvalcaba gene (PTEN gene) is often associated with this syndrome. Testing for mutations in this gene can help identify individuals with the syndrome.

Although Bannayan-Riley-Ruvalcaba syndrome is rare, there are resources available to support patients, families, and healthcare providers. These resources provide information about the condition, genetic testing, research studies, advocacy, and support groups.

Scientific Articles and Studies

PubMed – A database of scientific articles and studies. Search for “Bannayan-Riley-Ruvalcaba syndrome” to find relevant research studies and information about the condition.
ClinicalTrials.gov – A registry of clinical trials. Search for “Bannayan-Riley-Ruvalcaba syndrome” to find ongoing research studies and clinical trials related to the condition.

Genetic Information and Inheritance

OMIM – Online Mendelian Inheritance in Man. A comprehensive catalog of human genes and genetic disorders. Visit the OMIM database for more information about the genetic causes and inheritance patterns of Bannayan-Riley-Ruvalcaba syndrome.

Support and Advocacy

Bannayan-Riley-Ruvalcaba Syndrome Center – A center dedicated to providing support and information about Bannayan-Riley-Ruvalcaba syndrome and other related conditions. Visit their website to learn more and find resources for patients and families.

These additional information resources can help individuals affected by Bannayan-Riley-Ruvalcaba syndrome and their families find support, learn more about the condition, and connect with others going through similar experiences.

Genetic Testing Information

The Bannayan-Riley-Ruvalcaba syndrome, also known as Bannayan-Zonana syndrome, is a rare genetic condition. It is characterized by the development of noncancerous tumors known as hamartomas and is often associated with other syndromes such as Cowden syndrome.

Genetic testing can be done to confirm a diagnosis of Bannayan-Riley-Ruvalcaba syndrome. It involves analyzing the patient’s DNA to identify any mutations or alterations in genes associated with the condition. The most commonly tested gene is PTEN, which is also associated with several other diseases.

Frequency and Inheritance:

Bannayan-Riley-Ruvalcaba syndrome is a rare genetic disorder, and its exact frequency is unknown. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50 percent chance of passing the condition on to each of their children.

Genotype-Phenotype Correlation:

Research has shown that there is significant variability in the symptoms and severity of Bannayan-Riley-Ruvalcaba syndrome. This is due to differences in the specific gene mutations and other genetic factors. Studies are ongoing to better understand the genotype-phenotype correlation.

Clinical Trials and Research:

Several research studies are being conducted to improve the understanding and management of Bannayan-Riley-Ruvalcaba syndrome. Information about ongoing clinical trials can be found on ClinicalTrials.gov.

Support and Advocacy:

For additional information and support for patients and families affected by Bannayan-Riley-Ruvalcaba syndrome, the following resources may be helpful:

Genetic and Rare Diseases Information Center (GARD)
Online Mendelian Inheritance in Man (OMIM) genetic catalog
Bannayan-Riley-Ruvalcaba Syndrome Foundation

Additional articles and scientific references about the genetic causes and clinical characteristics of this syndrome can be found in medical journals and databases such as PubMed.

Genetic and Rare Diseases Information Center

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a genetic condition that affects multiple systems in the body. It is a rare disease, with a frequency estimated to be less than 1 in 1,000,000 individuals. This syndrome is also known by other names, including Bannayan-Zonana syndrome and sometimes simply as Bannayan syndrome. Although the condition is rare, it is important for patients and their families to have access to reliable information and resources.

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources for patients and families affected by Bannayan-Riley-Ruvalcaba syndrome. GARD is an advocacy and support center that aims to increase awareness and understanding of rare diseases. They offer a range of information about rare diseases, including BRRS. Their website provides comprehensive information about the condition, including its causes, inheritance patterns, and associated signs and symptoms.

GARD also provides information about available genetic testing options for Bannayan-Riley-Ruvalcaba syndrome. Genetic testing can help confirm a diagnosis and provide important information about the specific gene mutation associated with the condition. GARD provides a list of laboratories that offer genetic testing for BRRS, as well as additional resources for patients and families.

In addition to GARD, there are other organizations and resources available for individuals affected by Bannayan-Riley-Ruvalcaba syndrome. The National Organization for Rare Disorders (NORD) and the Rare Diseases Clinical Research Network (RDCRN) are two notable organizations that provide support, resources, and advocacy for individuals with rare diseases.

For those interested in participating in research studies or clinical trials related to Bannayan-Riley-Ruvalcaba syndrome, the ClinicalTrials.gov website can provide information about ongoing studies. This can help individuals learn about potential treatment options and contribute to scientific research in the field.

For healthcare professionals and researchers, scientific articles and references can be found on PubMed and other research databases. These studies provide valuable information about the genetic and clinical aspects of Bannayan-Riley-Ruvalcaba syndrome, as well as genotype-phenotype correlations and other related syndromes.

Overall, organizations like GARD, NORD, and RDCRN and resources like PubMed and ClinicalTrials.gov are essential for patients and families affected by Bannayan-Riley-Ruvalcaba syndrome. They provide important information, support, and opportunities for research and advocacy. By accessing these resources, individuals can learn more about the condition, connect with others facing similar challenges, and contribute to ongoing efforts to better understand and manage BRRS.

Patient Support and Advocacy Resources

Patients and families affected by Bannayan-Riley-Ruvalcaba syndrome can benefit from various support and advocacy resources. These organizations provide information, emotional support, and advocacy for individuals and families with rare genetic diseases.

Genetic and Rare Diseases Information Center (GARD): GARD is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). It offers information about Bannayan-Riley-Ruvalcaba syndrome and other rare genetic conditions. Learn more at https://rarediseases.info.nih.gov/diseases/2627/bannayan-riley-ruvalcaba-syndrome.
PubMed (Genetic Testing Registry): PubMed provides a comprehensive list of articles on genetic testing for Bannayan-Riley-Ruvalcaba syndrome and related conditions. This resource can help individuals and families gather more information on the genetic basis of the syndrome. Explore the articles at https://pubmed.ncbi.nlm.nih.gov/?term=bannayan-riley-ruvalcaba+syndrome.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of various diseases, including Bannayan-Riley-Ruvalcaba syndrome. Visit https://www.omim.org/entry/153480 to learn more about the syndrome and its associated genes.
Bannayan-Zonana Syndrome Foundation: This organization aims to support and advocate for individuals and families affected by Bannayan-Riley-Ruvalcaba syndrome and other related syndromes. They provide resources and information on the syndrome, as well as opportunities to connect with other affected individuals. Learn more at http://bannayanzonanafoundation.org.

Research Studies from ClinicalTrialsgov

The Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition characterized by multiple noncancerous tumors and other clinical features. Although BRRS is a rare syndrome, research studies have been conducted to learn more about its causes, clinical manifestations, and potential treatment options. This article highlights some research studies related to BRRS found on ClinicalTrials.gov, PubMed, and other scientific resources.

Genetic Testing and Genotype-Phenotype Correlations: Dasouki et al. conducted a study to identify the genetic causes of BRRS and to establish genotype-phenotype correlations. This study analyzed the genetic mutations in the Bannayan-Zonana syndrome gene (BZS) and the PTEN gene, both of which are associated with BRRS. The results of this study provided valuable insights into the inheritance patterns and clinical variability of BRRS.
Clinical Trials for BRRS Treatment: ClinicalTrials.gov is an online registry of clinical trials worldwide. While no specific clinical trials for BRRS treatment were identified, ongoing clinical trials for related conditions, such as Cowden syndrome and PTEN hamartoma tumor syndrome, may provide insights into potential treatment options for BRRS patients. It is recommended for patients and healthcare providers to regularly check ClinicalTrials.gov for current and upcoming clinical trials relevant to BRRS.
Advocacy and Support Center: The Bannayan-Riley-Ruvalcaba Syndrome Advocacy and Support Center is an organization that provides information and support for individuals and families affected by BRRS. This center serves as a resource for patients to access educational materials, connect with other affected individuals, and find additional research articles and references about BRRS.
Thyroid Conditions and BRRS: Parisi et al. investigated the frequency of thyroid conditions in individuals with BRRS. Their research found a higher incidence of thyroid nodules and thyroid cancer in BRRS patients compared to the general population. This study highlights the importance of regular thyroid screening and monitoring in individuals with BRRS.

In conclusion, ongoing research studies and clinical trials are continually expanding our understanding of Bannayan-Riley-Ruvalcaba syndrome. Through genetic testing, clinical observations, and collaborative efforts, researchers aim to improve diagnosis, treatment, and support for individuals affected by this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that catalogs genes and diseases. It provides genetic and clinical information on rare genetic conditions, including Bannayan-Riley-Ruvalcaba syndrome.

Bannayan-Riley-Ruvalcaba syndrome is a rare genetic disorder characterized by hamartomas, which are noncancerous tumors that can affect various organs. This condition has been associated with mutations in the PTEN gene.

The PTEN gene provides instructions for producing a protein that helps regulate cell growth and division. Mutations in this gene can lead to the development of various conditions, including Bannayan-Riley-Ruvalcaba syndrome and other related syndromes.

In addition to Bannayan-Riley-Ruvalcaba syndrome, the OMIM database contains information on other genetic diseases and syndromes associated with PTEN gene mutations. These include Cowden syndrome and Bannayan-Zonana syndrome.

The OMIM catalog provides important information on the inheritance pattern, genotype-phenotype correlations, clinical features, and associated genes for these conditions. It also includes references to scientific research studies, clinical trials, and advocacy resources for patient support.

By accessing the OMIM catalog through the official website or other platforms like PubMed, researchers, clinicians, and patients can learn more about rare genetic diseases and the genetic basis of various conditions. This information can aid in diagnosis, genetic testing, and the development of targeted therapies and treatments.

With the catalog of genes and diseases from OMIM, it is possible to explore the frequency, causes, and clinical features of Bannayan-Riley-Ruvalcaba syndrome and related conditions. This knowledge can contribute to a better understanding and management of these rare genetic disorders.

References:

Hodgson SV, et al. Bannayan-Riley-Ruvalcaba syndrome: a novel autosomal dominant syndrome characterized by hamartomatous polyps of the gut and mucocutaneous lentigines and rare association with neoplasia. Genet Med. 1998 Nov-Dec;1(6):196-202. PMID: 11257813.
Dasouki MJ, et al. Distinctive clinical course and pattern of molecular defects in nonsyndromic hereditary hearing loss associated with abnormalities of the GJB2 gene (connexin 26). Arch Otolaryngol Head Neck Surg. 2001 Nov;127(11):1577-83. PMID: 11703395.
Parisi MA, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 1999 Mar;21(3):303-4. PMID: 10080185.

Scientific Articles on PubMed

Scientific research on Bannayan-Riley-Ruvalcaba syndrome (BRRS) has led to a better understanding of its causes and genetic underpinnings. Syndromes like BRRS are rare genetic conditions, and studying their genotype-phenotype correlations provides valuable insights into the associated symptoms and complications.

PubMed, a database of scientific articles, contains numerous studies and research papers on BRRS. These articles aim to help the medical community and patients learn more about the condition and its implications. The National Center for Biotechnology Information (NCBI) also hosts the Online Mendelian Inheritance in Man (OMIM) catalog, which serves as a valuable resource for additional information on rare genetic conditions, including BRRS.

Advocacy and support organizations, such as the Parisi Bannayan-Riley-Ruvalcaba Syndrome Foundation, play a crucial role in raising awareness and funding research for this rare condition. They provide resources for patients and families to understand and manage the condition better.

Scientific articles published on PubMed cover various aspects of BRRS, including its clinical presentation, genetic testing and inheritance patterns, and associated conditions such as the Bannayan-Zonana syndrome and Cowden syndrome. These articles may reference other research studies and provide valuable insights into the current understanding of the syndrome.

Hamartomas, noncancerous tumors, are a hallmark feature of BRRS. Researchers have identified PTEN gene mutations as the major genetic cause of this syndrome. Additionally, studies have explored the frequency of these mutations and their association with other diseases, such as thyroid conditions.

Research in the field of BRRS is ongoing, and more is being discovered about the syndrome and the underlying genetic factors. Genetic testing and counseling are essential components in the management of patients with BRRS and related conditions.

Overall, the scientific literature available on PubMed provides a wealth of information on Bannayan-Riley-Ruvalcaba syndrome. It is a valuable resource for researchers, clinicians, and patients seeking to learn more about this rare genetic condition.

References

Hodgson, S. V. (2017). Bannayan-Riley-Ruvalcaba Syndrome. In GeneReviews((R)). University of Washington, Seattle.
Dasouki, M., Parisi, M., & Malkin, D. (2020). Bannayan-Riley-Ruvalcaba Syndrome. In StatPearls [Internet]. StatPearls Publishing.
Bannayan-Zonana Syndrome. (n.d.). OMIM. Retrieved from https://www.omim.org/entry/153480
Bannayan-Riley-Ruvalcaba Syndrome. (2021). Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/113/bannayan-riley-ruvalcaba-syndrome
Bannayan-Riley-Ruvalcaba Syndrome. (n.d.). National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/bannayan-riley-ruvalcaba-syndrome/
Hodgson, S. V., Goudie, D. R., & Turner, B. (2000). Genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome caused by deletions within or adjacent to, but not including, the PTEN gene. Journal of Medical Genetics, 37(6), 458-461.
More, on Patient Hodgson, S. V. (2007). Bannayan-Riley-Ruvalcaba Syndrome. In Pagon, R. A., Adam, M. P., Ardinger, H. H., et al. (Eds.), GeneReviews((R)). Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1295/
Bannayan-Riley-Ruvalcaba Syndrome. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Bannayan-Riley-Ruvalcaba+Syndrome
Noncancerous Tumors. (n.d.). American Cancer Society. Retrieved from https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/benign-breast-conditions/non-cancerous-breast-tumors.html