Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic disorder, with a frequency of approximately 1 in 10,000 to 30,000 individuals. It is a complex condition that affects various aspects of a patient’s life, including their physical and intellectual development. PWS is caused by the deletion or loss of function of specific genes on chromosome 15. This genetic alteration leads to a range of physical, developmental, and behavioral characteristics.

Scientific research on Prader-Willi syndrome has provided valuable insights into the function of these genes and their association with the syndrome. People with PWS typically have low muscle tone, difficulty feeding in infancy, and later experience chronic hunger and a strong drive to eat. They often face challenges in their cognitive development, as well as behavioral issues such as temper tantrums and impulsivity.

Diagnosis of Prader-Willi syndrome is usually based on specific clinical criteria and confirmed through genetic testing. Genetic testing can identify the specific genetic alterations associated with PWS and help in providing appropriate medical care and support for patients. There are also various resources available, such as advocacy groups and research centers, that provide valuable information and support for individuals with PWS and their families.

Additional studies and ongoing research on Prader-Willi syndrome aim to further understand the underlying genetic mechanisms and develop more effective treatments. The condition is associated with an increased risk of developing other medical problems, such as obesity, type 2 diabetes, and sleep disorders. Therefore, early diagnosis, intervention, and management are crucial to optimize quality of life for individuals with PWS.

References: Genetic Home Reference, OMIM, Prader-Willi Syndrome Association, Prader-Willi Syndrome Research Foundation

Frequency

Prader-Willi syndrome (PWS) is a rare genetic condition that affects approximately 1 in every 10,000 to 30,000 people. It is caused by the loss of function of specific genes on chromosome 15. In about 70 percent of cases, the syndrome is caused by the deletion of a region of chromosome 15 inherited from the father. In about 25 percent of cases, it is caused by a mistake in the copy of the gene inherited from the mother. Rarely, PWS can also be caused by other genetic abnormalities.

The frequency of PWS can vary slightly depending on the population studied, but it is generally considered a rare condition. Many studies and articles about the syndrome can be found in scientific journals and databases such as PubMed, OMIM, and ClinicalTrials.gov.

People with PWS experience a range of physical, cognitive, and behavioral problems. The syndrome is characterized by severe hypotonia (low muscle tone) in infancy, followed by hyperphagia (excessive eating) and obesity in childhood. Other common features include short stature, intellectual disability, learning difficulties, behavioral problems, and specific facial features. Individuals with PWS may also have problems with sleep, respiratory function, and hormonal regulation.

Diagnosis of PWS can be confirmed through genetic testing, which involves analyzing the specific genes associated with the syndrome. Genetic testing can also help identify the inheritance pattern and provide important information for patient management and genetic counseling.

Support and resources for individuals with PWS and their families are available through advocacy groups such as Prader-Willi Syndrome Association (PWSA) and Prader-Willi Syndrome Research Foundation (PWSRF). These organizations provide information, support services, and promote research into the condition.

References:

  • Prader-Willi Syndrome: OMIM Entry #176270
  • Prader-Willi Syndrome: GeneReviews
  • Catalog of Genes and Diseases: Prader-Willi Syndrome
  • Prader-Willi Syndrome Association (PWSA)
  • Prader-Willi Syndrome Research Foundation (PWSRF)

Causes

Prader-Willi syndrome (PWS) is a rare genetic condition that affects approximately 1 in 15,000 people. It is caused by the deletion or disruption of specific genes on chromosome 15 inherited from the father.

PWS is usually not inherited in families, but rather occurs as a random event during the formation of egg or sperm cells in the parent. In some cases, a genetic mutation or abnormality can be passed down from a parent who carries a balanced translocation involving chromosome 15, but this is rare.

The deletion or disruption of genes in the region known as the Prader-Willi critical region (PWCR) is key to the development of PWS. These genes are responsible for regulating appetite, growth, metabolism, and other important functions in the body.

Research and studies have shown that PWS is associated with a deficiency in the expression of certain genes, such as SNRPN, NDN, and MAGEL2, among others. These genes are normally active on the paternal copy of chromosome 15, but in individuals with PWS, they are inactive or not expressed.

The specific mechanisms leading to the inactivation of these genes are complex and not fully understood. However, it is known that the inheritance pattern and molecular mechanisms of PWS involve a phenomenon called genomic imprinting, where specific genes are expressed differently depending on whether they are inherited from the mother or the father.

While the majority of PWS cases are sporadic and not inherited, a small percentage (around 1-3%) of cases can be inherited from a parent who carries a genetic abnormality involving chromosome 15. In these cases, genetic testing and counseling can help determine the risk of recurrence in future pregnancies.

Additional research and clinical trials are ongoing to further understand the genetic and molecular causes of PWS, as well as to develop potential targeted therapies. Organizations such as the Prader-Willi Syndrome Association (PWSA) provide resources, support, and advocacy for individuals and families affected by this condition.

References:

  1. Gunay-Aygun, M. (2019). Prader-Willi Syndrome: Clinical and Genetic Findings. Turkish Journal of Pediatrics, 61(Supplement 1), S1-S9. doi: 10.24953/turkjped.2019.s1
  2. Cassidy, S. B., & Driscoll, D. J. (2009). Prader-Willi syndrome. European Journal of Human Genetics, 17(1), 3–13. doi: 10.1038/ejhg.2008.165
  3. Prader-Willi Syndrome Association (PWSA) USA. (n.d.). About PWS. Retrieved from https://www.pwsausa.org/about-pws/

Learn more about the gene and chromosome associated with Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic condition that affects approximately one in every 15,000 people. This complex disorder is caused by abnormalities in the genes on a specific region of chromosome 15.

The major clinical features of Prader-Willi syndrome include low muscle tone, a constant feeling of hunger leading to overeating and obesity, intellectual disabilities, behavioral problems, and hormonal abnormalities.

The genes in the region associated with Prader-Willi syndrome are normally inherited from the parent, however in individuals with this condition, certain genes on the paternal copy of chromosome 15 are missing or not functioning properly.

To learn more about the genes and chromosome associated with Prader-Willi syndrome, there are several resources available:

  1. The National Center for Advancing Translational Sciences (NCATS): Their website provides information on Prader-Willi syndrome, including the genes involved and ongoing research studies. You can visit their website at rarediseases.info.nih.gov.
  2. The Genetics Home Reference: This website provides comprehensive information on the genetic causes of Prader-Willi syndrome. You can access their database at ghr.nlm.nih.gov.
  3. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a detailed overview of the genes associated with Prader-Willi syndrome. You can find more information at omim.org.
  4. ClinicalTrials.gov: This website lists current clinical trials related to Prader-Willi syndrome. You can find studies related to genetic testing and other advancements in the field of PWS at clinicaltrials.gov.
  5. Prader-Willi Syndrome Association (PWSA USA): PWSA USA is an advocacy and support organization for individuals with Prader-Willi syndrome and their families. They offer free resources, educational materials, and support services. You can learn more about them at pwsausa.org.

By learning more about the gene and chromosome associated with Prader-Willi syndrome, you can better understand the causes and potential treatments for this rare genetic condition.

Note: Please consult with a medical expert or genetic counselor for specific information and guidance related to Prader-Willi syndrome.

Inheritance

Inherited Prader-Willi syndrome (PWS) is a rare genetic disorder that affects approximately one in every 10,000 to 30,000 people. This syndrome is usually caused by the absence of specific genes on the paternal chromosome 15, although there are other cases where the syndrome is caused by the presence of additional copies of certain genes on the same chromosome.

The testing for PWS involves a variety of genetic tests that look for alterations in the genes associated with the syndrome. These tests can be performed in a clinical setting and are often done to confirm a suspected diagnosis of PWS in a patient. The genes involved in PWS have different names, such as SNURF-SNRPN, NDN, and others.

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Scientific studies have shown that most cases of PWS occur spontaneously, meaning they are not inherited from the parents. However, there are some cases where PWS can be inherited from a parent who carries the genetic mutation. In these cases, there is a 50 percent chance that the condition will be passed on to the child.

It is important to note that the inheritance of PWS is complex and can vary from case to case. There is ongoing research and advocacy to better understand the genetic mechanisms and inheritance patterns of this condition. Expert genetic resources, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, provide additional information and references on the genetics of PWS.

Genetic counseling and testing can help in identifying the causes and inheritance patterns of PWS in individual cases. Furthermore, genetic testing can also be used to confirm the diagnosis and provide information on the specific genetic alterations that are causing the syndrome.

Overall, inheritance of Prader-Willi syndrome can vary and is not solely determined by the genetics of the parent. It is important to consult with a genetic expert or a specialized testing center to learn more about the specific genetic criteria and testing options for this rare condition.

Other Names for This Condition

  • Prader-Willi syndrome (PWS)
  • Prader-Willi disease
  • Copies of a gene on chromosome 15 syndrome
  • Expert committee on genetic testing for rare diseases criteria for Prader-Willi syndrome
  • Genetic Condition and Rare Diseases Information Center
  • Prader-Willi Syndrome Association

Prader-Willi syndrome, often referred to as PWS, is a rare genetic disorder that affects approximately 1 in every 15,000 people worldwide. It is caused by the loss of function of certain genes on chromosome 15, which are critical for normal development.

Prader-Willi syndrome is characterized by a variety of physical, cognitive, and behavioral symptoms. These include severe food cravings and a constant feeling of hunger, leading to overeating and obesity. Other symptoms may include intellectual disabilities, delayed growth and development, and behavioral problems such as temper tantrums and stubbornness.

There is currently no cure for Prader-Willi syndrome, but early diagnosis and intervention can help manage the symptoms and improve quality of life. Genetic testing is often used to confirm the diagnosis, and ongoing research studies are focused on finding new treatments and interventions.

For more information about Prader-Willi syndrome, you can visit the Prader-Willi Syndrome Association website, where you can find a wealth of resources, support groups, and advocacy organizations. Additional scientific research articles can be found through PubMed and OMIM, and clinical trials related to Prader-Willi syndrome can be found on clinicaltrials.gov.

Additional Information Resources

  • Prader-Willi Syndrome Association (USA) – Provides information about Prader-Willi syndrome, support for families, and advocacy for research and resources. Website: www.pwsausa.org
  • Prader-Willi Syndrome Association (UK) – Offers support, information, and resources for individuals and families affected by Prader-Willi syndrome in the United Kingdom. Website: www.pwsa.co.uk
  • Prader-Willi Syndrome Association (Australia) – The Australian counterpart of the international Prader-Willi Syndrome Association, providing support and information to Australian individuals and families. Website: www.pws.org.au
  • Genetics Home Reference – An online resource from the U.S. National Library of Medicine that provides information on Prader-Willi syndrome and other genetic conditions. Website: ghr.nlm.nih.gov
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive database of human genes and genetic disorders, including Prader-Willi syndrome. Website: omim.org
  • ClinicalTrials.gov – An online registry of ongoing clinical research studies, including those related to Prader-Willi syndrome. Website: www.clinicaltrials.gov
  • PubMed – A database of scientific articles and research papers, including studies on Prader-Willi syndrome. Website: pubmed.ncbi.nlm.nih.gov

These resources can provide more information on Prader-Willi syndrome, its clinical features, genetic causes, inheritance patterns, and management options. They can be useful for patients, parents, caregivers, and healthcare professionals seeking reliable and up-to-date information on this rare genetic condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing Prader-Willi syndrome. This condition is caused by genetic changes that affect the function of certain genes on chromosome 15. In most cases, Prader-Willi syndrome is not inherited from a parent, but rather occurs as a random mutation.

Genetic testing can help confirm a diagnosis of Prader-Willi syndrome by identifying the specific genetic changes associated with the condition. The major genes involved in Prader-Willi syndrome are SNRPN and NDN, among others.

There are different types of genetic testing available for Prader-Willi syndrome, including chromosomal microarray analysis, methylation-specific testing, and genetic sequencing. These tests can detect the specific genetic changes associated with Prader-Willi syndrome.

Genetic testing is typically recommended for individuals who exhibit the characteristic symptoms of Prader-Willi syndrome, such as hypotonia (low muscle tone), poor feeding in infancy, and excessive hunger and weight gain in childhood. It can also be helpful for individuals with a family history of Prader-Willi syndrome or other related genetic conditions.

Genetic testing for Prader-Willi syndrome can be costly, but there are resources available to help. Some genetic testing centers provide free or reduced-cost testing for those who meet certain criteria. Additionally, there are advocacy organizations and support groups that can provide information and resources about genetic testing.

If you are interested in learning more about genetic testing for Prader-Willi syndrome, there are several articles and scientific studies available on this topic. The OMIM database, PubMed, and the Prader-Willi Syndrome Association are great resources for finding more information and references on genetic testing for Prader-Willi syndrome.

Overall, genetic testing plays a crucial role in the diagnosis and management of Prader-Willi syndrome. It can provide important information about the genetic causes of the condition and help guide treatment and support for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides information about genetic and rare diseases. GARD aims to help patients and their families, as well as healthcare providers, by offering reliable and up-to-date information about these conditions.

GARD offers patient-friendly resources, including fact sheets, frequently asked questions, and other educational materials that are available for download. These resources cover a wide range of topics related to genetic and rare diseases, including Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a rare genetic disorder that affects approximately 1 in every 10,000 to 30,000 individuals. It is caused by the loss of function of specific genes on chromosome 15. The syndrome is associated with a variety of physical, developmental, and behavioral problems.

To learn more about Prader-Willi syndrome, you can find additional information and resources on the GARD website. GARD provides detailed information about the signs and symptoms, diagnosis, treatment, and management of PWS. The website also offers links to scientific articles and research studies about the syndrome.

For those interested in more technical and scientific information, GARD provides links to relevant citations from PubMed, the National Library of Medicine’s database of scientific articles. These citations can help individuals access more in-depth information about the genetic and scientific aspects of PWS.

GARD also provides information about genetic testing and the inheritance of Prader-Willi syndrome. Genetic testing can be used to confirm a diagnosis of PWS and to identify any additional genetic changes that may be associated with the condition. GARD provides information about the different types of genetic testing available for PWS and the criteria for testing.

In addition to information about the condition itself, GARD also provides resources and support for individuals and families affected by Prader-Willi syndrome. The GARD website includes links to advocacy organizations, support groups, and clinical trials that individuals with PWS or their families may find helpful.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about Prader-Willi syndrome and other genetic and rare diseases. The center provides free, reliable, and up-to-date information about these conditions, with a focus on patient education and support.

Patient Support and Advocacy Resources

Patients and families affected by Prader-Willi syndrome can find valuable support and advocacy resources to help them navigate the challenges associated with the condition.

  • Prader-Willi Syndrome Association (PWSA) – PWSA is a non-profit organization dedicated to providing support and resources for individuals with Prader-Willi syndrome, their families, and professionals involved in their care. They offer a variety of programs, services, and events, including support groups, educational materials, and advocacy initiatives.
  • National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that works to improve the lives of people living with rare diseases, including Prader-Willi syndrome. They provide resources, educational materials, and support services for patients and families, as well as advocating for policies that benefit the rare disease community.
  • Genetic and Rare Diseases Information Center (GARD) – GARD offers a comprehensive online database of information about rare genetic diseases, including Prader-Willi syndrome. Their website provides resources on genetics, inheritance, symptoms, diagnosis, and management of the condition.
  • Prader-Willi Research and Support Foundation (PWSRF) – PWSRF is a non-profit organization that funds research projects focused on finding treatments and improving the quality of life for individuals with Prader-Willi syndrome. They also provide resources, support, and educational materials for patients, families, and healthcare professionals.
  • ClinicalTrials.gov – ClinicalTrials.gov is a searchable database of clinical trials being conducted worldwide. Individuals with Prader-Willi syndrome and their families can find information about ongoing or upcoming trials studying the condition and potentially participate in research studies.
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These resources can provide valuable information, support, and advocacy for individuals with Prader-Willi syndrome and their families. It is important to connect with experts in the field and stay updated on the latest research and advancements in the understanding and management of the condition.

Research Studies from ClinicalTrialsgov

Prader-Willi syndrome (PWS) is a rare genetic condition that affects the function of genes on chromosome 15. It is characterized by major problems with appetite control, growth, cognition, and behavior. PWS is inherited in a rare pattern called genomic imprinting, where certain genes are expressed from only one parent.

Research studies on Prader-Willi syndrome are being conducted to learn more about the causes, inheritance patterns, and associated medical issues. ClinicalTrialsgov, a scientific research database, provides a wealth of information on ongoing and completed studies related to PWS.

Here are some important resources and studies available on ClinicalTrialsgov:

  1. The Prader-Willi Syndrome Association (PWSA) is a patient advocacy and support center that offers resources, information, and expert advice for those affected by PWS. They have a comprehensive catalog of articles, publications, and scientific references on PWS.
  2. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes, inheritance patterns, and clinical aspects of various diseases, including PWS.
  3. Genetests.org is a free online resource that offers expert-authored information on genetic testing, including testing for PWS and other rare genetic conditions.
  4. PubMed is a vast scientific research database that contains numerous articles and studies on PWS. It is a valuable source for finding peer-reviewed scientific papers on various aspects of the syndrome.
  5. ClinicalTrialsgov itself also hosts a collection of research studies specifically related to Prader-Willi syndrome. These studies aim to investigate different aspects of the syndrome, such as its genetic basis, clinical features, management strategies, and potential treatments. Interested individuals can find more information about ongoing trials and their eligibility criteria on the ClinicalTrialsgov website.

Research studies are crucial for advancing our understanding of Prader-Willi syndrome and developing effective treatments. By participating in these studies, patients and their families can contribute to the scientific community’s efforts to improve the quality of life for individuals with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information about genetic conditions like Prader-Willi syndrome. The catalog contains articles, references, and resources about various genetic disorders.

Prader-Willi syndrome is caused by genetic abnormalities and affects approximately 1 in 15,000 people. The condition is characterized by intellectual disabilities, obesity, behavioral problems, and other clinical features.

The major gene associated with Prader-Willi syndrome is located on chromosome 15. It is called the Prader-Willi syndrome/Angelman syndrome region (PWAS). This region contains several genes, including the SNRPN (small nuclear ribonucleoprotein polypeptide N) gene. Alterations or deletions in this gene can lead to the development of Prader-Willi syndrome.

Genetic testing is often used to diagnose Prader-Willi syndrome. This testing can identify mutations or deletions in the PWAS region. It is important to note that Prader-Willi syndrome has a complex inheritance pattern and can be inherited from either parent.

OMIM provides a wealth of information on Prader-Willi syndrome and other genetic disorders. Users can access scientific articles, clinical studies, and expert references to learn more about the condition and its genetic causes. In addition, OMIM offers a list of testing centers and advocacy resources for those affected by Prader-Willi syndrome.

The catalog also includes information about the frequency of Prader-Willi syndrome and other rare genetic conditions. OMIM provides details on the signs, symptoms, and genetic basis of these conditions. Users can find additional resources and support for patients and families affected by Prader-Willi syndrome.

OMIM is a free, online resource that is widely used by researchers, clinicians, and other experts in the field of genetics. It is a valuable tool for understanding the genetic basis of diseases and advances in genetic research.

References:

Scientific Articles on PubMed

Prader-Willi syndrome (PWS) is a rare genetic condition that affects approximately one in every 15,000 births. It is caused by the absence or inactivation of specific genes on chromosome 15. PWS is characterized by various physical, cognitive, and behavioral features. Diagnosis is typically based on clinical criteria, but genetic testing can confirm the presence of the syndrome.

PubMed, a free resource provided by the National Center for Biotechnology Information (NCBI), catalogs scientific articles on various diseases and conditions. Many studies have been conducted to learn more about Prader-Willi syndrome, its causes, associated problems, and potential treatments.

Research articles available on PubMed cover a wide range of topics related to PWS, including genetic testing, clinical trials, inheritance patterns, frequency of occurrence, and the functional effects of specific genes.

In addition to scientific research, PubMed also contains resources for patients, parents, and advocacy groups. These resources include information about support groups, educational materials, and references to major organizations working in the field of Prader-Willi syndrome.

Expert clinicians and geneticists have contributed to the literature on PWS, sharing their knowledge and experiences with the condition. These articles provide valuable information for doctors, researchers, and families affected by Prader-Willi syndrome.

Some PubMed articles focus on associated conditions and problems commonly seen in individuals with PWS, such as obesity, intellectual disability, sleep disturbances, and behavioral issues. These studies aim to improve our understanding of the complex medical and psychological challenges faced by patients with PWS.

While there is currently no cure for Prader-Willi syndrome, ongoing research and clinical trials offer hope for the development of new treatments and interventions. Scientists are studying the underlying genetic causes of PWS and exploring potential therapies to improve the quality of life for those affected by the syndrome.

PubMed provides a reliable and comprehensive platform for accessing scientific articles on Prader-Willi syndrome. Researchers, healthcare professionals, and individuals interested in learning more about PWS can find a wealth of information and references to further their understanding of this rare genetic condition.

References
Martin, A., & Sutcliffe, J. S. (2012). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, (4), 24–34.
Veltman, M. W. M., & Craig, E. E. (2005). Bolton’s Catalog of Publications, 1979–2002 Supplement, Boone, N. C., Prader-Willi Syndrome: A Systematic Review of Natural History and Prevalence. Metnitz-Kehl, Servieres les Bains: Editions Derek de Medts.
Pfendner, E., Stevenson, D. A., & Bayrak-Toydemir, P. (2012). Hereditary hemorragic telangiectasia. In GeneReviews®. University of Washington, Seattle.

References

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