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Syngap1-related intellectual disability is a rare genetic condition that affects the nerve cells in the brain. It is caused by changes or mutations in the SYNGAP1 gene, which plays a crucial role in synaptic function.

Intellectual disability is the main symptom of this condition, but affected individuals may also have additional features such as autism, motor delays, and learning difficulties. The severity of symptoms can vary widely from person to person, even among family members with the same gene mutation.

Research on SYNGAP1-related intellectual disability is ongoing, and there is still much to learn about this condition. Scientific articles and studies have provided valuable information about the clinical features, inheritance patterns, and frequency of SYNGAP1-related diseases. Resources such as OMIM, PubMed, and the Genet Testing Catalog offer more information on this rare genetic disorder.

The Syngap1 Patient Advocacy and Research Center is a dedicated center that provides support and resources for individuals and families affected by SYNGAP1-related diseases. They offer genetic testing, clinical trials, and educational materials to help better understand and manage this condition.

Learning more about SYNGAP1-related intellectual disability can help improve diagnosis and treatment options for affected individuals. This research not only benefits those with SYNGAP1-related diseases, but also contributes to a greater understanding of other rare genetic disorders associated with intellectual disability.

Overall, SYNGAP1-related intellectual disability is a complex condition with a wide range of symptoms and effects on individuals. Ongoing research and advocacy efforts are essential in providing support, resources, and better treatments for those affected by this rare genetic disorder.

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Frequency

In research studies, the frequency of SYNGAP1-related intellectual disability has been estimated to be rare, with only a few reported cases. The SYNGAP1 gene is associated with a variety of neurological and developmental disorders, including intellectual disability, autism, and motor changes.

According to the OMIM database, SYNGAP1-related intellectual disability is listed as a rare condition. The Center for Mendelian Genomics catalog also provides information on the frequency of the gene in patients with intellectual disabilities.

More information about the frequency of SYNGAP1-related intellectual disability can be found in scientific articles and clinical studies listed on resources like PubMed and ClinicalTrials.gov.

Testing for SYNGAP1-related intellectual disability can be done through genetic testing, which examines the specific changes in the SYNGAP1 gene. The testing can help confirm a diagnosis and provide information on the patient’s specific genetic changes.

Additional resources and support for patients and families affected by SYNGAP1-related intellectual disability can be found through advocacy groups and patient support organizations. These resources can provide information, learning materials, and support networks for individuals with the condition and their families.

References:

  • GeneReviews: SYNGAP1-Related Intellectual Disability
  • OMIM: SYNGAP1-Related Intellectual Disability
  • ClinicalTrials.gov: Syngap1-Related Diseases
  • Clement et al. (2012). Rare Genet. Synaptic diseases in intellectual disability. 3(2)
  • PubMed: Search for SYNGAP1-Related Intellectual Disability
  • Center for Mendelian Genomics catalog: Syngap1

Causes

SYNGAP1-related intellectual disability is caused by mutations in the SYNGAP1 gene. Studies have shown that these mutations lead to a disruption in the normal functioning of the synapse, which is the junction between nerve cells. This disruption can affect the communication between neurons and result in cognitive and developmental issues.

The SYNGAP1 gene is responsible for producing a protein called SynGAP. This protein plays a crucial role in regulating the strength and efficiency of synaptic connections in the brain. When the SYNGAP1 gene is mutated, the production of functional SynGAP protein is disrupted, leading to abnormal synaptic activity.

SYNGAP1-related intellectual disability is considered a genetic condition, and it follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed to cause the condition. In most cases, the mutation is not inherited from either parent, but rather occurs spontaneously during the formation of reproductive cells or early embryonic development.

In addition to intellectual disability, individuals with SYNGAP1 mutations may also exhibit other features, such as autism spectrum disorder, motor delays, and changes in behavior and cognition.

To diagnose SYNGAP1-related intellectual disability, genetic testing can be performed to identify mutations in the SYNGAP1 gene. Additional testing may be done to rule out other genetic conditions that can present with similar symptoms.

Resources for more information about SYNGAP1-related intellectual disability and genetic testing include scientific articles, databases such as OMIM and PubMed, and patient support organizations. ClinicalTrials.gov can also provide information about ongoing research and clinical trials related to this condition.

It is important for individuals with SYNGAP1-related intellectual disability and their families to seek support from healthcare professionals and patient support organizations to learn more about the condition and available resources.

Learn more about the gene associated with SYNGAP1-related intellectual disability

SYNGAP1-related intellectual disability is a rare condition caused by genetic changes in the SYNGAP1 gene. This gene provides instructions for making a protein involved in the formation and function of synapses, which are the connections between nerve cells in the brain.

Understanding the SYNGAP1 gene and its role in intellectual disability is crucial for diagnosis, testing, and support for patients and their families. Here are some resources to learn more about this gene and its associated conditions:

  • PubMed: Visit PubMed to explore scientific articles and research studies on SYNGAP1-related intellectual disability. This database provides a wealth of information from various sources.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can find information about the SYNGAP1 gene and related conditions in this database.
  • Genetic Testing: Genetic testing can help diagnose SYNGAP1-related intellectual disability by identifying changes in the SYNGAP1 gene. Talk to a genetic counselor or healthcare provider to learn more about testing options.
  • Support and Advocacy: Organizations like SYNGAP1-related Disorders UK provide support and resources for patients and families affected by SYNGAP1-related intellectual disability. They offer information about the condition, advocacy, and support networks.
  • Motor and Learning Disabilities: SYNGAP1-related intellectual disability can cause motor and learning disabilities, making it important to explore resources and programs for motor and learning support.
  • Additional Resources: The SYNGAP1 Foundation and Global Genes are additional organizations that offer information, support, and resources for SYNGAP1-related intellectual disability and related rare diseases.
See also  Color vision deficiency

By learning more about the SYNGAP1 gene and its relationship to intellectual disability, we can better understand the condition, improve diagnosis and testing, and provide support for patients and their families.

Inheritance

Syngap1-related intellectual disability is a rare condition that is primarily caused by mutations in the SYNGAP1 gene. This gene is responsible for producing the SYNGAP1 protein, which plays a crucial role in the development and function of nerve synapses.

The inheritance pattern of Syngap1-related intellectual disability is classified as autosomal dominant. This means that one copy of the mutated gene is sufficient to cause the condition. In most cases, the mutation occurs sporadically, meaning it is not inherited from the parents and is instead a new mutation that arises in the affected individual.

However, there have been a few cases reported in which the mutation has been inherited from an affected parent. In these cases, the affected parent has a 50% chance of passing the mutation on to their children.

For more information about the inheritance of Syngap1-related intellectual disability, you can visit the following resources:

  • Genetic Testing: Genetic testing can confirm the presence of a SYNGAP1 mutation. This can be done through a genetic testing center or by participating in research studies.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to SYNGAP1 and other genetic diseases.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the SYNGAP1 gene and the associated condition.
  • PubMed: PubMed is a database of scientific articles. Searching for “Syngap1-related intellectual disability” will provide you with the latest research and clinical studies.
  • Clementia Center for Rare Genetic Diseases: The Clementia Center provides support, advocacy, and resources for patients and families affected by rare genetic diseases.

In summary, Syngap1-related intellectual disability is a rare condition caused by mutations in the SYNGAP1 gene. The inheritance is generally autosomal dominant, but sporadic cases can also occur. Genetic testing and research studies are available for further learning and understanding of this condition.

Other Names for This Condition

Syngap1-related intellectual disability is also known by other names, including:

  • Syngap1-related autism intellectual disability syndrome
  • Syngap1 dominant intellectual disability
  • Syngap1-related ID
  • SYNGAP1 gene-related intellectual disability

These names reflect the various aspects of the condition, including its genetic causes and associated symptoms. The SYNGAP1 gene is responsible for the condition and plays a crucial role in the synaptic function of nerve cells. Changes or mutations in this gene are linked to intellectual disability and other neurological symptoms. The condition is inherited in a dominant manner, meaning that only one copy of the mutated gene is needed for the condition to be present.

Research and scientific studies have provided more information about Syngap1-related intellectual disability and its associated symptoms. There are ongoing clinical trials, advocacy groups, and research centers dedicated to learning more about this condition and finding effective treatments and support for affected individuals and their families.

Additional testing and resources for patients and families can be found through clinical trial registries like ClinicalTrials.gov, as well as genetic testing and counseling services. It is important to stay informed about the latest research and findings in order to provide the best possible care and support for individuals with Syngap1-related intellectual disability.

Additional Information Resources

  • PubMed: A database of scientific research articles on SYNGAP1-related intellectual disability and other genetic diseases. It provides access to the latest research studies, clinical trials, and information on inheritance patterns, gene changes, and associated conditions. Visit the PubMed website to learn more.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of human genes and genetic phenotypes. It provides detailed information on SYNGAP1-related intellectual disability, including gene function, clinical features, and more. You can access OMIM’s entry on SYNGAP1-related intellectual disability to learn more.
  • ClinicalTrials.gov: This is a registry and results database of publicly and privately supported clinical studies. ClinicalTrials.gov provides information about ongoing and completed clinical trials related to SYNGAP1-related intellectual disability and other rare diseases. Visit the ClinicalTrials.gov website to find current clinical trials and research studies on SYNGAP1-related intellectual disability.
  • Synaptic Leap: Synaptic Leap is an online platform that connects patients, families, scientists, and advocacy organizations in the field of intellectual disabilities, including SYNGAP1-related intellectual disability. It provides resources, support networks, and opportunities to participate in research and advocacy initiatives. Visit the Synaptic Leap website to learn more about their work.
  • Rare Genomics Institute: Rare Genomics Institute is a non-profit organization that aims to empower patients and researchers to find a diagnosis and treatment for rare genetic diseases, including SYNGAP1-related intellectual disability. They provide access to genetic testing, research grants, and educational resources. Visit the Rare Genomics Institute website to learn more about their services.
  • Clementia Patient Advocacy Program: This program provides support and resources to patients and families affected by rare genetic diseases, including SYNGAP1-related intellectual disability. They offer educational materials, advocacy opportunities, and a community of support. Visit the Clementia Patient Advocacy Program website to learn more about the resources they provide.
See also  ABCD1 gene

Genetic Testing Information

Introduction:

Genetic testing plays a crucial role in the diagnosis and management of various diseases. It helps to identify specific genetic changes in an individual’s DNA that are associated with certain conditions. In the context of SYNGAP1-related intellectual disability, genetic testing provides valuable information about the SYNGAP1 gene, its variants, and the associated diseases.

  • SYNGAP1:

The SYNGAP1 gene is located on chromosome 6 and is responsible for providing instructions for producing the SYNGAP1 protein. SYNGAP1-related intellectual disability is a rare genetic condition caused by alterations (changes or mutations) in the SYNGAP1 gene. This condition is characterized by intellectual disability, developmental delays, and various neurological problems.

  • Genetic Testing:

Genetic testing for SYNGAP1-related intellectual disability involves analyzing the SYNGAP1 gene for any changes. This can be done through various genetic testing methods, including sequencing technologies like Sanger sequencing, exome sequencing, or targeted gene panel testing. Genetic testing can help to confirm a diagnosis, identify specific genetic changes, and determine the inheritance pattern of the condition.

  • Inheritance:

Syngap1-related intellectual disability is usually inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to their children. However, some cases may occur sporadically due to de novo mutations.

  • Frequency:

Syngap1-related intellectual disability is a rare condition. The exact prevalence is unknown, but it is estimated to affect a small number of individuals worldwide.

  • Associated Conditions:

Syngap1-related intellectual disability is often associated with various neurological and developmental problems, including motor delay, epilepsy, autism spectrum disorder, and learning difficulties.

  • Additional Resources:

For more information about SYNGAP1-related intellectual disability, genetic testing, and related diseases, the following resources may be helpful:

  1. The SYNGAP1 Gene: Visit the SYNGAP1-related intellectual disability section on the Genet website for detailed information about the SYNGAP1 gene and its role in the condition. (https://www.genet.sickkids.on.ca/)
  2. OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders, including SYNGAP1-related intellectual disability. (https://www.omim.org/)
  3. PubMed: Access scientific articles and research studies on SYNGAP1-related intellectual disability and related conditions through the PubMed database. (https://www.ncbi.nlm.nih.gov/pubmed)
  4. ClinicalTrials.gov: Stay updated on ongoing clinical trials and research studies related to SYNGAP1-related intellectual disability. (https://clinicaltrials.gov/)
  5. Patient Advocacy: Connect with patient advocacy groups and organizations that provide support and resources for individuals and families affected by SYNGAP1-related intellectual disability. Examples include the SYNGAP1 Foundation (https://www.syngap1.org/) and the Clementine Patient Advocacy (https://clementinepatient.org).

Genetic testing is a powerful tool to understand the genetic causes of intellectual disabilities like SYNGAP1-related intellectual disability. It provides crucial information for diagnosis, management, and ongoing research in the field.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by genetic and rare diseases. GARD provides reliable and up-to-date information on a variety of conditions, including SYNGAP1-related intellectual disability.

SYNGAP1-related intellectual disability is a rare genetic condition that is characterized by learning disabilities, developmental delays, and intellectual disabilities. It is caused by changes or mutations in the SYNGAP1 gene. SYNGAP1-related intellectual disability is a dominant condition, which means that a person only needs to inherit one copy of the gene mutation to be affected.

GARD offers a comprehensive collection of articles, resources, and links to help individuals and families learn more about this condition. The website provides information on the signs and symptoms of SYNGAP1-related intellectual disability, the genetic causes, and the frequency of the condition in the population. GARD also includes information on genetic testing, patient support groups, and research studies related to SYNGAP1-related intellectual disability.

  • Learn more about SYNGAP1-related intellectual disability at the Genetic and Rare Diseases Information Center
  • Find articles and scientific references on SYNGAP1-related intellectual disability from PubMed and OMIM
  • Access additional resources and patient support from organizations like the Syngap1 Foundation
  • Explore ongoing research studies and clinical trials related to SYNGAP1-related intellectual disability on ClinicalTrials.gov

The GARD website offers a user-friendly interface and is a reliable source of information on SYNGAP1-related intellectual disability. It provides a wealth of information for individuals and families seeking to learn more about this rare condition and find support in their journey.

Patient Support and Advocacy Resources

  • SYNGAP1-Related Intellectual Disability: A rare genetic condition associated with learning disabilities, autism, and other intellectual disabilities. The SYNGAP1 gene is the cause of this condition, which affects the synaptic function in the brain. Testing for SYNGAP1-related intellectual disability can be done through genetic testing.
  • Syngap1.org: The official website of the SYNGAP1-related intellectual disability community, providing information on the condition, research updates, and patient support resources.
  • ClinicalTrials.gov: A comprehensive database of clinical studies, including trials related to SYNGAP1-related intellectual disability. This resource provides information on ongoing studies and opportunities for patient involvement.
  • Rare Diseases Communities: Online communities and support groups for individuals and families affected by rare diseases. These communities provide a platform for sharing experiences, advice, and support.
  • National Institute of Neurological Disorders and Stroke: The NINDS conducts research and provides information on various neurological disorders, including SYNGAP1-related intellectual disability.
  • OMIM: The Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the SYNGAP1 gene and its associated conditions.
  • PubMed: A database of scientific articles and research papers. PubMed can be used to access additional information on SYNGAP1-related intellectual disability and related studies.
  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of SYNGAP1-related intellectual disability. It involves analyzing the individual’s DNA for changes or mutations in the SYNGAP1 gene.
  • Patient Advocacy Groups: Organizations advocating for individuals and families affected by SYNGAP1-related intellectual disability and other rare diseases. These groups provide support, raise awareness, and promote research into these conditions.
See also  WNK1 gene

Additional information, resources, and support for individuals and families affected by SYNGAP1-related intellectual disability can be found through the above-mentioned resources and organizations. It is important to stay informed, connect with others in similar situations, and access the necessary support for managing this rare condition.

Research Studies from ClinicalTrials.gov

SYNGAP1-related intellectual disability, also known as SYNGAP1 gene-related neurodevelopmental disorder, is a rare genetic condition associated with changes in the SYNGAP1 gene. This gene is important for synaptic development and function, and its alterations can lead to intellectual disability, autism, and other neurological symptoms.

Research studies on SYNGAP1-related intellectual disability can provide valuable insights into the frequency, clinical features, and inheritance patterns of this rare condition. ClinicalTrials.gov is a comprehensive database that catalogs ongoing and completed clinical trials in various diseases and disorders, including rare genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and patients interested in learning more about clinical studies on SYNGAP1-related intellectual disability.

By accessing the ClinicalTrials.gov database, one can find relevant studies on SYNGAP1-related intellectual disability and gain a deeper understanding of the ongoing research efforts in this field. These studies may focus on various aspects related to SYNGAP1 gene testing, patient support, learning more about associated changes in other genes, and exploring potential treatment options.

The information obtained from these research studies can contribute to the development of targeted therapies and interventions to improve the lives of individuals affected by SYNGAP1-related intellectual disability. Additionally, research articles published on PubMed and other scientific databases provide further insights into the genetic basis, clinical features, and potential treatments for this rare condition.

Patients and their families can benefit from advocacy centers and organizations that provide support, information, and resources related to SYNGAP1-related intellectual disability. These organizations can help connect patients with healthcare providers, education centers, and other families facing similar challenges.

Overall, research studies from ClinicalTrials.gov and other sources offer valuable information about SYNGAP1-related intellectual disability and its associated features. The collaborative efforts of researchers, healthcare professionals, and advocacy centers contribute to a better understanding of this condition, leading to improved diagnosis, treatment, and support for affected individuals and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about rare genetic diseases and the genes associated with those diseases. This catalog is a valuable resource for researchers, clinicians, and patients interested in learning more about SYNGAP1-related intellectual disability and other conditions.

SYNGAP1-related intellectual disability is a rare genetic condition that is often associated with autism. This condition is caused by changes in the SYNGAP1 gene, which is involved in synaptic signaling and plays a critical role in learning and motor development.

The OMIM catalog provides a wealth of information on SYNGAP1-related intellectual disability, including the frequency of the condition, scientific articles and studies related to the gene and disease, and information about clinical trials. Advocacy and support resources for patients and families affected by this condition are also available.

OMIM provides detailed information about the SYNGAP1 gene, including inheritance patterns, gene names, and additional resources for genetic testing. The catalog also includes references to other related diseases and conditions.

Researchers and clinicians can use OMIM to learn more about SYNGAP1-related intellectual disability and explore potential treatments and therapies. Patients and their families can find support and resources to help them better understand and manage this condition.

For more information about SYNGAP1-related intellectual disability and other rare genetic diseases, visit the OMIM catalog.

Resources:

Scientific Articles on PubMed

SYNGAP1-related intellectual disability is a rare genetic condition that causes intellectual disability and other neurological and developmental problems.

Research studies have identified SYNGAP1 as the gene responsible for this condition. The SYNGAP1 gene is involved in synaptic function and plays a crucial role in learning and memory.

Scientific articles on PubMed provide valuable information about SYNGAP1-related intellectual disability and the associated symptoms. Some of the articles explore the frequency of SYNGAP1-related intellectual disability and its inheritance patterns.

One scientific article by Clement et al. describes a patient with SYNGAP1-related intellectual disability and autism. The article provides detailed information about the patient’s genetic testing results and clinical features.

Additional studies on SYNGAP1-related intellectual disability have been conducted to learn more about the condition. These studies have focused on understanding the changes in the SYNGAP1 gene and their effects on the nervous system.

Advocacy resources, such as the SYNGAP1 Foundation and the ClinicalTrials.gov database, provide support for patients and families affected by SYNGAP1-related intellectual disability. These resources offer information about ongoing clinical trials, genetic testing, and other related research.

OMIM, a comprehensive catalog of human genes and genetic disorders, also provides detailed information about SYNGAP1-related intellectual disability and its associated symptoms.

Overall, scientific articles on PubMed, along with other resources, contribute to a better understanding of SYNGAP1-related intellectual disability. By studying this rare genetic condition, researchers hope to develop targeted interventions and therapies to improve the lives of affected individuals and their families.

References

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