Proteus syndrome

Proteus syndrome is a rare genetic disorder that is associated with the overgrowth of various tissues in the body. It is characterized by the rapid and unrestricted proliferation of cells, leading to abnormal growth in multiple parts of the body. This condition is caused by mutations in the PTEN gene, which is responsible for regulating cell growth and division. These mutations result in the uncontrolled activation of the AKT1 protein, leading to the overgrowth of tissues.

The exact causes of Proteus syndrome are still unknown, and research is ongoing to learn more about the genetic and environmental factors that may contribute to its development. However, it is believed to be a sporadic condition, meaning that it is not typically inherited from one generation to another. It is estimated that Proteus syndrome affects approximately one in every million people, making it an extremely rare condition.

ClinicalTrials.gov provides additional information on ongoing research studies and clinical trials for Proteus syndrome. This online resource is a valuable tool for finding up-to-date information on the latest scientific studies and treatment options. PubMed and OMIM are also excellent resources for finding articles, studies, and other information on Proteus syndrome.

Support and advocacy for individuals with Proteus syndrome are available through various organizations, such as the Proteus Syndrome Foundation. These organizations provide resources, information, and support to patients and their families affected by this condition. Genetic testing may also be available to confirm a diagnosis of Proteus syndrome and help guide treatment decisions.

Frequency

The exact frequency of Proteus syndrome is difficult to determine due to its rarity, with estimates ranging from 1 in 1 million to 1 in 100,000 individuals. It is believed to occur equally in males and females. Onset of symptoms typically occurs in childhood, with the condition becoming more apparent as the affected individual grows.

The underlying cause of Proteus syndrome is a mutation in the PTEN gene, which is responsible for regulating cell growth and division. These mutations lead to the overgrowth of tissue in various parts of the body, resulting in the characteristic features of the syndrome.

Proteus syndrome is not an inherited condition, meaning it is not passed down from parents to their children. The majority of cases are sporadic, occurring without any family history of the syndrome. However, there have been a few reports of severe cases of Proteus syndrome being inherited in an autosomal dominant pattern.

There are no specific guidelines for genetic testing for Proteus syndrome. Genetic testing can confirm the presence of PTEN gene mutations in affected individuals. It can also be useful in ruling out other genetic conditions associated with similar symptoms.

For more information about genetic testing and clinical trials for Proteus syndrome, refer to the resources provided on the Proteus Syndrome Research Foundation website, as well as additional scientific articles and references listed on PubMed, OMIM, and ClinicalTrials.gov.

  • Proteus Syndrome Research Foundation: A non-profit organization dedicated to supporting research, advocacy, and providing information to individuals and families affected by Proteus syndrome. The website offers resources, clinical trial information, and more. Visit their website at www.proteus-syndrome.org.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic conditions. It provides information about the genetic basis of diseases, including Proteus syndrome. Visit their website at www.omim.org.
  • ClinicalTrials.gov: A database of clinical trials that provides information about ongoing and completed studies. Search for “Proteus syndrome” to find relevant clinical trials related to the condition. Visit their website at www.clinicaltrials.gov.
  • PubMed: A database of scientific articles and research papers. Search for “Proteus syndrome” to access a wealth of information and studies on the condition. Visit their website at www.pubmed.ncbi.nlm.nih.gov.

It is important to note that these resources are for informational purposes only and should not replace consultation with a healthcare professional. Strict adherence to genetic testing guidelines and clinical recommendations is necessary for accurate diagnosis and management of Proteus syndrome.

Causes

The exact cause of Proteus syndrome is still unknown. However, researchers believe that it is caused by a gene mutation.

Studies have shown that the gene called PTEN is associated with Proteus syndrome. Mutations in the PTEN gene can lead to abnormal cell growth and tissue overgrowth, which are characteristic features of this condition.

Genetic testing can be done to confirm the presence of PTEN mutations in patients with suspected Proteus syndrome. However, it is important to note that not all individuals with this condition have mutations in the PTEN gene.

Other genes may also be involved in the development of Proteus syndrome, although more research is needed to understand their role fully.

Proteus syndrome is extremely rare, with an estimated frequency of less than 1 in 1 million people.

Scientific articles on Proteus syndrome can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov. These resources provide valuable information on the genetic causes and clinical studies related to this condition.

It is essential for individuals with Proteus syndrome and their families to seek support and advocacy from organizations such as the Proteus Syndrome Foundation. These organizations provide resources, guidelines, and information about the syndrome and offer support to those affected.

Learn more about the gene associated with Proteus syndrome

Proteus syndrome is a rare genetic condition characterized by overgrowth of various tissues in the body. This condition is caused by mutations in the AKT1 gene. The AKT1 gene provides instructions for making a protein that is involved in cell growth and proliferation.

Genetic testing can help confirm a diagnosis of Proteus syndrome and identify the specific AKT1 mutations present in an individual. Genetic testing may also be used to determine if other genes, such as PTEN, are involved in the condition.

Studies have shown that mutations in the AKT1 gene are associated with increased cell growth and proliferation, leading to the overgrowth of tissues seen in Proteus syndrome. However, it is important to note that not all individuals with Proteus syndrome have AKT1 mutations. This suggests that there may be other genes or factors involved in the development of the condition.

Advocacy groups and patient support organizations can provide additional information about Proteus syndrome and genetic testing. These resources can also offer support and guidance to individuals and families living with this rare condition.

Information on clinical trials and research studies related to Proteus syndrome can be found on websites such as ClinicalTrials.gov and PubMed. These resources provide information on ongoing research and offer opportunities for individuals to participate in studies that may further our understanding of this condition.

For more information about Proteus syndrome and the genes associated with it, you can refer to scientific articles and publications. The Proteus Syndrome Foundation and other reputable sources may also have educational materials and guidelines available. References to these resources can be found in the catalog of scientific literature.

Inheritance of Proteus syndrome is often spontaneous, meaning the condition arises from random genetic changes and is not inherited from either parent. However, in some rare cases, Proteus syndrome may be inherited from a parent with a mosaicism, where the genetic mutation only affects some cells in their body.

Pulmonary overgrowth is a common feature of Proteus syndrome. This can lead to additional health concerns and require specialized medical care. Regular monitoring and evaluation by a medical professional with expertise in this condition are important for managing the associated complications.

It is important to note that the information provided here is for educational purposes and should not replace medical advice. Individuals with concerns about their health or genetic testing should consult with a healthcare professional or a genetic counselor.

Inheritance

The inheritance pattern of Proteus syndrome is still not fully understood. While most cases of Proteus syndrome occur sporadically and are not inherited, there have been a few reports of affected individuals having family members with the condition.

Proteus syndrome is thought to be caused by somatic mutations in the AKT1 gene. Somatic mutations are genetic changes that occur after conception and are not inherited from a parent. These mutations lead to overgrowth of various tissues, resulting in the clinical features of the syndrome.

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In rare cases, Proteus syndrome has been associated with inherited genetic conditions such as PTEN hamartoma tumor syndrome. PTEN mutations are also associated with other conditions such as Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are characterized by the growth of benign tumors in various tissues.

Inheritance of Proteus syndrome can be challenging to diagnose, as the somatic mutations that cause the condition are not present in all cells of the body. Therefore, genetic testing for the AKT1 gene or other related genes may not be informative in all cases. However, in some cases, genetic testing may be useful to confirm a diagnosis or rule out other genetic conditions.

It is important for individuals and families affected by Proteus syndrome to learn more about the condition, its causes, inheritance patterns, and available testing options. Resources such as the OMIM catalog, PubMed, and clinicaltrialsgov can provide valuable information and references to support further research.

Other Names for This Condition

Proteus syndrome, also known as Wiedemann syndrome, Cohen syndrome, and Widerstandsfahigkeitsfieber syndrome, is a scientific term used to describe a rare genetic condition characterized by overgrowth of different tissue types in the body. This condition has a very low frequency, with only a few reported cases in medical literature.

Proteus syndrome is also sometimes referred to as PTEN hamartoma tumor syndrome, which is a term used to describe a group of related conditions caused by mutations in the PTEN gene.

Other names associated with this condition include:

  • Proteus-like syndrome
  • Proteus-like syndrome, XX- or XY-linked
  • Proteus-like syndrome, Disproportionate, Gigantism, and Pigmentary Dysregulation
  • Proteus-like syndrome, AKT1-related
  • Proteus-like syndrome, X-linked
  • Proteus syndrome, somatic
  • Proteus syndrome, germline
  • Proteus syndrome, mosaic

These various names reflect the different aspects of the condition and its association with specific genetic mutations or inheritance patterns.

Additional information on Proteus syndrome, including clinical trials and research studies, can be found in scientific publications and advocacy resources. PubMed and OMIM are good sources for accessing articles and genetic information about this condition. ClinicalTrials.gov is another valuable resource to find information about ongoing clinical trials and testing protocols.

It is important to note that strict guidelines and testing procedures should be followed when diagnosing and determining the genetic causes of Proteus syndrome. Genetic testing and analysis can help identify specific mutations in genes such as AKT1 and PTEN, which are associated with this condition.

Patient support and advocacy groups can also provide valuable resources to learn more about Proteus syndrome, its associated conditions, and available treatment options. The Proteus Syndrome Foundation is one such organization that offers information, support, and research funding for individuals affected by this rare genetic disorder.

Additional Information Resources

To learn more about Proteus syndrome and associated conditions, you can explore the following additional resources.

Websites and Online Resources

  • Genetests.org – Provides information on genetic testing, inheritance patterns, and associated genes.
  • PubMed – A database of scientific articles and studies. Search for “Proteus syndrome” to find the latest research and information.
  • Online Mendelian Inheritance in Man (OMIM) – A catalog of genetic diseases and associated genes. Search for “Proteus syndrome” to access detailed information.
  • ClinicalTrials.gov – Explore ongoing clinical trials and research studies related to Proteus syndrome and its treatment.

Genetic Testing and Counseling Centers

  • Genetics Testing Center – Offers genetic testing services for Proteus syndrome and other genetic conditions.
  • Genetics Center – Provides comprehensive genetic testing, counseling, and support services.

Patient Advocacy and Support Groups

  • Proteus Syndrome Foundation – Offers resources, support, and research updates for individuals and families affected by Proteus syndrome.
  • National Organization for Rare Disorders (NORD) – A patient advocacy organization that provides information and support for rare diseases, including Proteus syndrome.

It is important to note that Proteus syndrome is a rare condition and there may be limited resources available. Consulting with a healthcare professional who specializes in genetic disorders can provide more information and guidance.

Genetic Testing Information

Proteus syndrome is a rare genetic condition associated with overgrowth of tissues in various parts of the body. It is caused by mutations in the AKT1 gene. Genetic testing can provide important information about the presence of these mutations in an individual.

The OMIM database is a valuable resource for learning more about the genetic aspects of Proteus syndrome. It provides a comprehensive catalog of articles and scientific studies on the condition, including information on inheritance patterns, associated genes, and the frequency of these mutations in the population.

Genetic testing for Proteus syndrome can be done through specialized laboratories and medical centers. It involves analyzing a sample of the patient’s blood or tissue to identify any mutations in the AKT1 gene. The results of this testing can provide valuable information for diagnosis, management, and research purposes.

In addition to genetic testing, clinical evaluation and support are important for individuals with Proteus syndrome. The Proteus Syndrome Foundation is an advocacy group that provides support and resources for patients and their families. They also provide information about ongoing research and clinical trials related to the condition.

It is worth noting that Proteus syndrome shares some clinical features with other overgrowth syndromes, such as PTEN hamartoma tumor syndrome. This highlights the importance of genetic testing to differentiate between these conditions and provide accurate diagnoses and appropriate management.

For more information about genetic testing for Proteus syndrome, one can refer to resources such as PubMed, ClinicalTrials.gov, and the guidelines provided by the American College of Medical Genetics and Genomics. These sources offer additional information and references to support further learning and research on this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides scientific and genetic information about Proteus syndrome, a rare genet condition characterized by overgrowth of tissue and other complications. GARD aims to support individuals and families affected by rare diseases by providing up-to-date and reliable information.

GARD offers comprehensive resources on Proteus syndrome, including information on its causes, frequency, inheritance patterns, and clinical manifestations. Understanding the underlying genetic mutations that cause this condition is crucial for accurate diagnosis and management.

One of the key genes associated with Proteus syndrome is the AKT1 gene. Mutations in this gene result in abnormal cell proliferation and tissue overgrowth. However, not all cases of Proteus syndrome have identified AKT1 mutations, suggesting the involvement of other genes in the development of this condition.

ClinicalTrials.gov provides information about ongoing research studies and clinical trials related to Proteus syndrome. These studies aim to further understand the condition and develop better guidelines for diagnosis and treatments. It is important for individuals affected by Proteus syndrome and their families to stay informed about these research opportunities to contribute to the advancement of knowledge and potential treatments.

In addition to providing information on Proteus syndrome, GARD also offers resources and support for other genetic and rare diseases. Their database includes information on various rare genetic conditions, their symptoms, inheritance patterns, and available treatments. Through their advocacy and support, GARD promotes awareness and understanding of rare diseases.

GARD collaborates with various scientific and medical organizations to ensure that the information provided is accurate and reliable. Information on Proteus syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive resource for genetic conditions. PubMed, a database of scientific articles, also provides research and clinical studies related to Proteus syndrome.

Genetic testing is a crucial part of diagnosing Proteus syndrome. Blood testing can identify specific genetic mutations associated with the condition. However, due to the complexity and rarity of Proteus syndrome, strict guidelines for testing have been developed to ensure accurate diagnosis.

For additional support and information on Proteus syndrome, individuals and families can refer to GARD’s resources and recommendations. GARD offers guidelines on genetic counseling, advocacy organizations, and patient support groups. These resources aim to connect individuals affected by Proteus syndrome with the necessary support and information they need.

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References:

  1. GARD: Proteus syndrome
  2. OMIM: Proteus syndrome
  3. ClinicalTrials.gov: Proteus syndrome clinical trials
  4. PubMed: Proteus syndrome research articles

Patient Support and Advocacy Resources

Patients and their families affected by Proteus syndrome can benefit from various support and advocacy resources. These resources provide valuable information and assistance in navigating the challenges associated with the condition.

Patient Support

  • Proteus Syndrome Foundation: The Proteus Syndrome Foundation is a non-profit organization dedicated to supporting individuals with Proteus syndrome and their families. They offer resources such as information on the condition, support groups, and opportunities to connect with other affected individuals.
  • Rare Diseases Organizations: There are several rare diseases organizations that provide support and resources for individuals with rare conditions, including Proteus syndrome. These organizations can offer guidance, advocacy, and access to additional resources for patients and their families.

Advocacy and Research

  • Rare Diseases Clinical Research Network: The Rare Diseases Clinical Research Network (RDCRN) is a network of research programs focused on studying rare diseases. They conduct clinical trials and research studies to better understand and develop treatments for various rare conditions, including Proteus syndrome.
  • Genetic Testing and Counseling: Genetic testing can help confirm a diagnosis of Proteus syndrome and identify specific genetic mutations associated with the condition. Genetic counseling can provide patients and their families with information about inheritance patterns, recurrence risks, and available testing options.

Scientific Resources

  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database contains scientific information about genes and genetic diseases, including Proteus syndrome. It provides detailed descriptions, clinical features, and references for further reading.
  • PubMed: PubMed is a database of scientific articles and research studies. It can be used to find scientific publications about Proteus syndrome, including studies on the genetic causes, clinical manifestations, and treatment options.

It is important to note that while these resources provide valuable information and support, they should not replace medical advice. Patients and their families should always consult with healthcare professionals for personalized guidance and care.

Research Studies from ClinicalTrials.gov

  • The AKT1 Gene in Proteus Syndrome (NCT03257972): This study aims to investigate the role of the AKT1 gene in Proteus syndrome. The researchers will conduct genetic testing on blood samples from patients with Proteus syndrome to identify any mutations in the AKT1 gene that may be associated with the condition. This information can help in understanding the causes of Proteus syndrome and potentially lead to targeted therapies.
  • Genetic Testing for Overgrowth Syndromes (NCT01962119): This study focuses on cataloging and testing blood samples from patients with various overgrowth syndromes, including Proteus syndrome. By analyzing the genetic information obtained from these samples, researchers aim to identify any genetic mutations and related causes for these conditions. The study can offer valuable insights into the frequency and inheritance patterns of overgrowth syndromes.
  • Pulmonary Function Testing in Proteus Syndrome (NCT03675841): This research study seeks to investigate the pulmonary function of patients with Proteus syndrome. By performing pulmonary function tests, researchers aim to assess the impact of this syndrome on lung health and function. The findings from this study can contribute to the development of guidelines for managing pulmonary complications associated with Proteus syndrome.
  • PTEN Mutations and Proteus Syndrome-Like Phenotypes (NCT04304287): This study aims to investigate the role of PTEN mutations in the development of Proteus syndrome-like phenotypes. By analyzing genetic data from patients with suspected PTEN-related conditions, researchers seek to identify any PTEN mutations that may be associated with Proteus syndrome-like symptoms. Understanding the genetic basis of these conditions can aid in accurate diagnosis, treatment, and genetic counseling.

These research studies from ClinicalTrials.gov provide valuable scientific information and resources for understanding and managing Proteus syndrome. Alongside the studies, additional information can be found in scientific articles, guidelines, and references like OMIM, PubMed, and other advocacy and support centers.

Catalog of Genes and Diseases from OMIM

This section provides information about the genes and diseases associated with Proteus syndrome, sourced from the Online Mendelian Inheritance in Man (OMIM) database.

OMIM is a comprehensive catalog of genes and genetic conditions, providing detailed information about inheritance patterns, associated mutations, clinical features, and much more. It is a valuable resource for researchers, healthcare professionals, patients, and their families.

Proteus syndrome is a rare genetic condition characterized by tissue overgrowth and other abnormalities. It is caused by mutations in the AKT1 gene.

Genes:

  • AKT1: This gene is associated with Proteus syndrome. Mutations in this gene cause abnormal cell proliferation and tissue growth.
  • PTEN: Although mutations in the PTEN gene are not directly responsible for Proteus syndrome, they have been found in some individuals with overlapping clinical features.

Diseases:

  • Proteus syndrome: This rare condition causes tissue overgrowth and other abnormalities. It is characterized by asymmetric overgrowth of various tissues, such as skin, bone, and blood vessels.

In addition to Proteus syndrome, the AKT1 gene and PTEN gene mutations are also associated with other conditions and diseases.

Additional Resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about Proteus syndrome, AKT1 gene, PTEN gene, and other associated conditions. Visit omim.org to learn more.
  • PubMed: Scientific articles related to Proteus syndrome, AKT1 gene, PTEN gene, and related research can be found on PubMed. Access the latest research at ncbi.nlm.nih.gov/pubmed.
  • ClinicalTrials.gov: Find information about ongoing clinical trials, guidelines, and patient support resources on ClinicalTrials.gov. Visit clinicaltrials.gov for more information.
  • Proteus Syndrome Foundation: The Proteus Syndrome Foundation is a patient advocacy organization offering support, information, and resources for individuals and families affected by Proteus syndrome. Learn more at proteus-syndrome.org.

This information should not be used for diagnosis or testing without consulting with a healthcare professional. Please refer to the original scientific references provided in OMIM, PubMed, and other reputable sources for more accurate and detailed information.

Scientific Articles on PubMed

  • Growth: Proteus syndrome is a condition characterized by the overgrowth of certain tissues in the body.
  • Genetic Testing: Genetic testing can provide more information about the gene mutations that cause Proteus syndrome, such as PTEN and AKT1.
  • Inheritance: The inheritance pattern of Proteus syndrome is not yet fully understood, but it is believed to be caused by spontaneous gene mutations.
  • Proliferation of Tissue: The main feature of Proteus syndrome is the abnormal proliferation of tissue, which leads to the characteristic overgrowth seen in affected individuals.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to Proteus syndrome.
  • Scientific Articles: Scientific articles on PubMed provide valuable insights into the genetic causes, clinical features, and management of Proteus syndrome.
  • Associated Conditions: Proteus syndrome is associated with various other conditions, including pulmonary diseases and additional genetic disorders.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including Proteus syndrome.
  • Support and Advocacy: There are support groups and advocacy organizations that provide resources and information for individuals and families affected by Proteus syndrome.
  • Strict Guidelines: Proper diagnosis and management of Proteus syndrome require strict adherence to clinical guidelines and expert recommendations.
  • References: For more information on Proteus syndrome, refer to the scientific articles and publications cited in this article.

References

Additional information about Proteus syndrome can be found in the following resources:

  • PTEN Catalog: Provides information about the PTEN gene, mutations associated with Proteus syndrome, and related conditions. Available from: https://www.ptencatalog.org/ptendb/
  • Proteus Syndrome Foundation: Offers support, advocacy, and information for patients and families affected by Proteus syndrome. Available from: https://www.ptenlife.com/proteus-syndrome-foundation
  • National Institutes of Health: Learn more about Proteus syndrome from the Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/diseases/10266/proteus-syndrome

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