Contents
[hide]
[show]

PPP2R5D-related intellectual disability is a rare genetic disorder characterized by intellectual disability, developmental delays, and other associated clinical features. It is caused by mutations in the PPP2R5D gene, which is involved in regulating the activity of certain proteins in the brain. This disorder is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the gene is enough to cause the condition.

Individuals with PPP2R5D-related intellectual disability typically have moderate to severe intellectual disability, delayed speech and language development, hypotonia (low muscle tone), and other physical features. They may also have behavioral problems, such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD).

Research studies and clinical trials are ongoing to learn more about this condition and find better ways to diagnose and treat affected individuals. Information on the current studies can be found on clinicaltrialsgov. Additional scientific resources, articles, and references about PPP2R5D-related intellectual disability can be found on OMIM, PubMed, and other genetic databases.

Testing for mutations in the PPP2R5D gene can confirm a diagnosis of PPP2R5D-related intellectual disability. Genetic counseling and support groups can provide information and support for individuals and families affected by this disorder. Advocacy organizations also play a role in raising awareness and supporting research for PPP2R5D-related intellectual disability.

For more information on PPP2R5D-related intellectual disability, please visit:

  • Clinicaltrials.gov
  • OMIM
  • PubMed
  • Genetic support organizations

Frequency

The frequency of PPP2R5D-related intellectual disability is not well understood due to its rarity. However, current research and available resources provide some information on its occurrence.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

  1. Publications from scientific studies: PPP2R5D-related intellectual disability is considered a rare condition, with only a limited number of documented cases in medical literature. Several case reports and studies have described patients with this disorder, shedding light on its clinical presentation and associated symptoms.
  2. OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogues information about genetic diseases. PPP2R5D-related intellectual disability is listed in OMIM, providing further documentation of the condition and its genetic basis.
  3. ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials exploring various medical conditions. While there are currently no clinical trials specifically focused on PPP2R5D-related intellectual disability, the absence of such trials suggests that the condition is extremely rare.
  4. Other genetic databases: Additional genetic databases may provide further information on the frequency of PPP2R5D-related intellectual disability. These resources can be explored to gather more data on the occurrence of this condition.

Overall, due to the limited number of reported cases and the rarity of PPP2R5D-related intellectual disability, it is considered a rare disorder. Further research and genetic testing may help in gaining a better understanding of the condition’s frequency and associated characteristics.

Causes

The main cause of PPP2R5D-related intellectual disability is a mutation in the PPP2R5D gene. This gene is located on the long arm of chromosome 1 (1q41) and provides instructions for making a protein that is part of an enzyme called protein phosphatase 2A. This enzyme is involved in the regulation of many cellular processes, including the growth and division of cells.

Scientists have found that mutations in the PPP2R5D gene lead to a decrease in the activity of protein phosphatase 2A. This reduced activity disrupts the normal functioning of cells, including those in the brain, leading to intellectual disability.

PPP2R5D-related intellectual disability is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the PPP2R5D gene in each cell is sufficient to cause the disorder. Most cases of this condition are not inherited from parents; instead, they occur sporadically as a result of a new mutation in the gene that occurs during the formation of egg or sperm cells or early in embryonic development.

Additional scientific studies have identified other genes that may be associated with intellectual disability, but the PPP2R5D gene is currently the most well-characterized gene linked to this specific condition.

Testing for mutations in the PPP2R5D gene can confirm a diagnosis of PPP2R5D-related intellectual disability. Genetic testing may be recommended for individuals who have intellectual disability, developmental delay, hypotonia (weak muscle tone), or other features associated with this condition. A genetic counselor or other healthcare professional can provide more information about the benefits, limitations, and implications of genetic testing.

For more information about genes associated with intellectual disability, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide valuable information about the genetic basis of various diseases and can help individuals and families learn more about the condition and find additional support and advocacy resources.

See also  PACS1 syndrome

Learn more about the gene associated with PPP2R5D-related intellectual disability

PPP2R5D-related intellectual disability is a rare genetic disorder characterized by intellectual disability and hypotonia. It is caused by mutations in the PPP2R5D gene, which is involved in the regulation of protein phosphatase 2A (PP2A) activity.

The PPP2R5D gene is located on chromosome 4 and is inherited in an autosomal dominant manner. This means that individuals who inherit a mutation in one copy of the gene from either parent have a 50% chance of developing the condition.

To learn more about the genetic causes of PPP2R5D-related intellectual disability, you can search for scientific articles and research papers on websites such as PubMed and OMIM. These resources provide information on the frequency of PPP2R5D mutations in different populations and the associated clinical features of the disorder.

In addition, genetic testing can be performed to identify mutations in the PPP2R5D gene in individuals with intellectual disability and hypotonia. This testing can help confirm a diagnosis and provide information on the inheritance pattern of the condition.

For more information and support, you can also visit advocacy and support organizations dedicated to PPP2R5D-related intellectual disability. These organizations provide resources, research updates, and opportunities to connect with other affected families.

ClinicalTrials.gov is another valuable resource to stay updated on ongoing research studies and clinical trials related to PPP2R5D-related intellectual disability. These studies aim to better understand the disorder and develop potential treatments or interventions.

It is important to note that PPP2R5D-related intellectual disability is just one of many genetic causes of intellectual disability. There are many other genes that have been identified as being associated with this condition, and research is ongoing to better understand their role.

By learning more about the PPP2R5D gene and its associated intellectual disability, scientists and medical professionals can continue to improve diagnosis, develop targeted treatments, and provide support for individuals and families affected by this rare disorder.

Inheritance

PPP2R5D-related intellectual disability is a genetic disorder caused by mutations in the PPP2R5D gene. This gene provides instructions for making a protein that is involved in the regulation of cellular activities, including the activity of other genes.

The inheritance pattern of this condition is autosomal dominant, which means that a mutation in one copy of the PPP2R5D gene in each cell is sufficient to cause the disorder. In most cases, the mutation is inherited from a parent who also has the disorder. However, some cases may occur due to new mutations in the gene.

Intellectual disability associated with PPP2R5D mutations is characterized by developmental delays, cognitive impairment, and language difficulties. Other features may include hypotonia (decreased muscle tone), motor delay, and behavioral problems.

There are additional rare genetic diseases associated with intellectual disability that may have overlapping symptoms with PPP2R5D-related intellectual disability. Genetic testing can help determine the specific cause of the condition, and genetic counselors can provide more information about inheritance and recurrence risks.

Scientific research and studies are ongoing to learn more about the causes, frequency, and inheritance of PPP2R5D-related intellectual disability. The PPP2R5D gene and associated genes are being investigated to better understand their role in the development and function of the brain.

Advocacy groups and resources such as the PPP2R5D Foundation provide support and information for patients and families affected by this condition. They also promote research and raise awareness to improve the diagnosis and management of PPP2R5D-related intellectual disability.

References:

Other Names for This Condition

PPP2R5D-related intellectual disability is also known by several other names, including:

  • PPP2R5D-associated intellectual disability
  • PPP2R5D-related developmental delay and intellectual disability
  • PPP2R5D-related disorder
  • PPP2R5D-related dominant disorder with intellectual disability and hypotonia

These names reflect the various aspects and characteristics of this rare genetic condition. They are used to describe the condition in different medical and scientific publications, research studies, clinical trials, and advocacy resources.

More information about PPP2R5D-related intellectual disability and its associated genes can be found on the websites of scientific organizations, clinical trial databases, genetic health information sources, and patient advocacy groups. These resources can provide additional information on the frequency, inheritance pattern, clinical features, testing methods, and treatment options available for this condition.

References:

  1. Janssens V, et al. (2017). PPP2R5D-Related Intellectual Disability. In: GeneReviews®. PMID: 28075488
  2. Catalog of Genes and Diseases. Online Mendelian Inheritance in Man (OMIM). [Internet]. Available from: https://www.omim.org/entry/614254
  3. Additional articles on PPP2R5D-related intellectual disability. PubMed [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=PPP2R5D-related+intellectual+disability
  4. Clinical trials on PPP2R5D-related intellectual disability. ClinicalTrials.gov [Internet]. Available from: https://clinicaltrials.gov/ct2/results?cond=PPP2R5D-related+intellectual+disability&Search=Apply&recrs=b&age_v=&gndr=&type=&rslt=
See also  Anonychia congenita

Learn more about PPP2R5D-related intellectual disability and find support from patient advocacy groups, such as the PPP2R5D Foundation and others, dedicated to raising awareness and improving the lives of individuals affected by this condition.

Additional Information Resources

For more information on PPP2R5D-related intellectual disability, you can refer to the following resources:

  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials related to PPP2R5D-related intellectual disability. Visit the website for more details on available studies and how to participate.
  • Articles and Scientific Publications: There are various articles and scientific publications available that provide insights into the condition. PubMed is a reliable source for accessing these studies. You can search for “PPP2R5D-related intellectual disability” or related terms to find relevant articles.
  • Genetic Testing and Support: Genetic testing and support organizations can provide valuable information and resources for individuals and families affected by PPP2R5D-related intellectual disability. Janssens & Janssens is one such organization that offers genetic testing services and support.
  • Rare Diseases and Advocacy Groups: Rare disease organizations, such as the Global Genes and Rare Diseases Europe, are dedicated to raising awareness and providing support for individuals with rare conditions. They may have information on PPP2R5D-related intellectual disability.
  • Online Gene Catalog: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that catalogs genes and genetic disorders. You can visit OMIM to learn more about the PPP2R5D gene and its association with intellectual disability.

These resources can help you learn more about the frequency, causes, inheritance patterns, clinical features, and available support for PPP2R5D-related intellectual disability.

Genetic Testing Information

PP2PR5D-related intellectual disability is a rare genetic disorder characterized by intellectual disability, hypotonia, and other additional clinical features. It is caused by mutations in the PPP2R5D gene.

Genetic testing can be used to diagnose PPP2R5D-related intellectual disability. There are several genetic tests available to identify mutations in the PPP2R5D gene. These tests may include various methods such as sequencing the gene or using other techniques to detect specific mutations.

Genetic testing can be beneficial for patients and their families as it can provide a definitive diagnosis and help in understanding the possible inheritance pattern of the condition.

For individuals seeking more information about PPP2R5D-related intellectual disability, there are various resources available. Scientific articles, research studies, and advocacy organizations such as the PPP2R5D Foundation and the Janssens Foundation can provide additional information and support.

Resources for Genetic Testing Information:

  • OMIM (Online Mendelian Inheritance in Man): This catalog provides information on genes and genetic disorders, including PPP2R5D-related intellectual disability.
  • PubMed: PubMed is a database that offers a vast collection of scientific articles and research studies related to PPP2R5D-related intellectual disability.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials that are focused on PPP2R5D-related intellectual disability. These trials can offer potential opportunities for individuals to participate and contribute to research in this field.

By utilizing these resources and seeking genetic testing, individuals can learn more about the condition, its causes, and available support. It is important to consult with healthcare professionals and genetic counselors for guidance and interpretation of testing results.

Patient Support and Advocacy Resources

Patients and their families affected by PPP2R5D-related intellectual disability can find support, information, and resources from various organizations. Here are some patient support and advocacy resources available:

  • Janssens Foundation: The Janssens Foundation offers support and resources for individuals and families affected by PPP2R5D-related intellectual disability. They provide information about the condition, genetic testing, and available clinical trials. Visit their website for more information.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information about the PPP2R5D gene, associated intellectual disability, and other related conditions. OMIM is a valuable resource for learning more about the genetic causes of intellectual disability. Visit their website for more information.
  • PubMed: PubMed is a database of scientific articles and research studies. It contains articles about PPP2R5D-related intellectual disability, its characteristics, inheritance pattern, and associated symptoms. PubMed is a useful resource for accessing scientific literature on this condition. Visit their website for more information.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. It provides information about ongoing and completed studies related to PPP2R5D-related intellectual disability. Patients and their families can explore these studies to learn about the latest research and potential treatment options. Visit their website for more information.

These resources offer valuable support, information, and advocacy for individuals and families affected by PPP2R5D-related intellectual disability. They can help patients access genetic testing, learn about the condition, and connect with other individuals and families facing similar challenges.

Research Studies from ClinicalTrials.gov

Genetic studies have identified the gene PPP2R5D as one of the causes of intellectual disability. Intellectual disability is a rare genetic disorder characterized by cognitive impairment and developmental delay.

See also  CLN10 disease

PP2R5D-related intellectual disability is thought to be caused by a mutation in the PPP2R5D gene. The protein encoded by this gene is an important component of the PPP2R5D phosphatase complex, which is involved in regulating the activity of other genes.

Research studies have been conducted to learn more about the role of PPP2R5D in intellectual disability and to develop targeted therapies for this condition. ClinicalTrials.gov is a valuable resource for finding information about ongoing and completed research studies related to PPP2R5D-related intellectual disability.

The ClinicalTrials.gov database provides a catalog of research studies that are currently recruiting participants or have already been completed. These studies investigate various aspects of PPP2R5D-related intellectual disability, including its frequency, associated features, inheritance patterns, and potential treatments.

By exploring the information available on ClinicalTrials.gov, patients, families, and advocates can learn more about ongoing research efforts, find additional resources for support and advocacy, and stay up to date on the latest scientific advances in the field of PPP2R5D-related intellectual disability.

References:

  • Janssens V. PPP2R5D-related intellectual disability. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560716/
  • OMIM Entry – #617762 – INTELLECTUAL DEVELOPMENTAL DISORDER WITH POTENTIAL OROMOTOR APRAXIA; IDDPOMA. Available from: https://www.omim.org/entry/617762
  • PubMed search results for “PPP2R5D-related intellectual disability”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=PPP2R5D-related+intellectual+disability

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog that provides information about genes and genetic disorders. It contains scientific articles, studies, and other resources that can help in understanding different diseases and their genetic causes.

One disorder that can be found in OMIM is PPP2R5D-related intellectual disability. This genetic condition is characterized by intellectual disability, hypotonia (low muscle tone), and other associated developmental delays. The PPP2R5D gene, also known as the protein phosphatase 2 regulatory subunit B’ delta (PPP2R5D), is associated with this disorder.

Through OMIM, you can learn more about this condition, including its inheritance and frequency in the population. The catalog provides references to scientific articles and studies related to PPP2R5D-related intellectual disability, allowing for further research and understanding of the disorder.

For additional information and resources, OMIM provides links to advocacy and support groups for individuals and families affected by PPP2R5D-related intellectual disability. They also provide information on genetic testing options and clinical trials related to this condition.

If you are interested in learning more about genes and diseases, OMIM is a valuable resource. It offers a wide range of information on rare genetic disorders and provides a platform for further scientific research and understanding of these conditions.

References:

  1. OMIM – PPP2R5D-RELATED INTELLECTUAL DISABILITY; Available from: https://www.omim.org/entry/617768
  2. Janssens V., et al. (2018). PPP2R5D-related intellectual disability: further characterization of the phenotype. European Journal of Human Genetics, 26(2), 183-191. PMID: 29230061
  3. ClinicalTrials.gov – PPP2R5D-Related Intellectual Disability; Available from: https://clinicaltrials.gov/ct2/results?cond=PPP2R5D-Related+Intellectual+Disability

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on PPP2R5D-related intellectual disability. It provides a platform to access a wide range of information about this rare genetic condition.

The PPP2R5D gene is associated with intellectual disability, and there are several research studies and clinical trials on this condition. Through PubMed, you can find articles about the clinical trials on PPP2R5D-related intellectual disability registered on clinicaltrial.gov. These studies provide valuable information about the frequency, clinical features, and possible causes of this disorder.

Research articles on PPP2R5D-related intellectual disability discuss the associated symptoms, such as intellectual disability and hypotonia. These articles also explore the dominant inheritance pattern and the role of the PPP2R5D gene in the disorder.

Scientists and researchers studying PPP2R5D-related intellectual disability have published articles on the topic. These articles provide essential insights into the pathology of the disorder, the activity of the PPP2R5D protein, and potential treatment options. By exploring the scientific literature, you can learn more about the current state of research in this field.

In addition to scientific articles, advocacy and patient support organizations often publish resources on PPP2R5D-related intellectual disability. These resources can provide helpful information to individuals and families affected by the condition.

In conclusion, PubMed is a valuable tool for accessing scientific articles and additional information about PPP2R5D-related intellectual disability. By exploring this catalog of articles, you can learn more about the genetic causes, associated symptoms, and ongoing research studies on this rare genetic disorder.

References

  • – Janssens V, Longin S, Goris J. Protein phosphatase 2A: a highly regulated family of serine/threonine phosphatases implicated in cell growth and signalling. Biochem J. 2008; 417(3): 717-729.
  • – OMIM. PPP2R5D-related intellectual disability. Accessed November 1, 2021.
  • – ClinicalTrials.gov. PPP2R5D-related intellectual disability. Accessed November 1, 2021.

Related Posts