ARHGAP31 gene

The ARHGAP31 gene is a widely studied gene that has been implicated in a variety of diseases. It is listed in the OMIM database, a registry of human genes and genetic disorders. The gene is also referenced in numerous scientific articles and publications, making it a topic of interest in the field of genetics.

ARHGAP31 is associated with several conditions, including Adams-Oliver syndrome, a rare genetic disorder characterized by abnormalities of the scalp and hands. The gene plays a role in regulating the activity of other proteins, such as RAC1, which is involved in cell migration and adhesion. Changes or mutations in the ARHGAP31 gene can lead to functional changes in these proteins, contributing to the development of various diseases and syndromes.

Testing for variants in the ARHGAP31 gene is available through various genetic testing laboratories and services. This testing can provide valuable information for healthcare professionals and individuals seeking to understand their genetic predisposition to certain conditions. The results of these tests can be used to inform medical decisions and provide guidance for managing health risks associated with changes in the ARHGAP31 gene.

For additional information on the ARHGAP31 gene and related conditions, resources such as PubMed and online genetic databases can provide a wealth of information. These databases offer access to scientific articles, research findings, and other relevant information on the gene and its associated diseases. Consulting these resources can help individuals and healthcare professionals stay up-to-date on the latest advancements in genetic research and testing.

Health Conditions Related to Genetic Changes

Genetic changes in the ARHGAP31 gene have been linked to several health conditions. These changes can affect the function of the gene and lead to various diseases and syndromes. Understanding the impact of these genetic changes is essential for proper diagnosis, management, and treatment of affected individuals.

ADAMS-OLIVER Syndrome

One health condition related to genetic changes in the ARHGAP31 gene is ADAMS-OLIVER syndrome. This rare condition is characterized by abnormalities affecting the skin, scalp, and hands. The gene variant in ARHGAP31 has been associated with this syndrome, although additional research is needed to fully understand the relationship.

RAC1-Related Diseases

The ARHGAP31 gene is also linked to RAC1-related diseases. RAC1 is a protein that interacts with ARHGAP31, and genetic changes in either gene can disrupt their normal function. RAC1-related diseases include various neurological disorders and developmental abnormalities.

OMIM and PubMed

For more information on the health conditions related to genetic changes in the ARHGAP31 gene, you can refer to the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These scientific resources provide detailed information, references, and articles on various conditions and genes.

Other Related Genes and Conditions

In addition to ARHGAP31, there are other genes associated with similar health conditions. These genes may interact with ARHGAP31 or be involved in related biological pathways. It is important to consider these genes and their potential impact when studying genetic changes in ARHGAP31.

Genetic Testing and Resources

If you suspect a genetic change in the ARHGAP31 gene or related genes, genetic testing can provide valuable insights. Various tests are available to detect specific changes, and resources such as the Genetic Testing Registry (GTR) can help you find appropriate tests and laboratories.

Hands-On Health Information

Understanding the health conditions related to genetic changes in the ARHGAP31 gene is crucial for healthcare professionals and individuals. By staying informed about the latest scientific research and utilizing available resources, you can better manage and treat these conditions.

Adams-Oliver syndrome

Adams-Oliver syndrome is a genetic condition that affects the development of multiple body systems. It is characterized by the combination of congenital anomalies, most commonly affecting the scalp and limbs. The syndrome is caused by changes (variants) in the ARHGAP31 gene, among others.

For more detailed information on Adams-Oliver syndrome, you can refer to the following resources:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of human genes and genetic conditions. The ARHGAP31 gene and the Adams-Oliver syndrome are listed in the OMIM catalog. You can search for specific variant information, clinical descriptions, and references to related scientific articles.
  2. PubMed: PubMed is a prominent database of scientific articles. Searching for “Adams-Oliver syndrome” on PubMed will provide you with additional research papers and case studies on the topic.
  3. RAC1 gene: In addition to the ARHGAP31 gene, mutations in the RAC1 gene have also been associated with Adams-Oliver syndrome. Therefore, it is important to consider both genes when evaluating the genetic basis of the syndrome.
  4. Genetic testing: If you suspect an individual might have Adams-Oliver syndrome, genetic testing can help confirm the diagnosis. Testing can identify changes or variants in the ARHGAP31 and RAC1 genes, among others, that are associated with the syndrome.
  5. Registries and databases: There are registries and databases available that collect information on individuals with Adams-Oliver syndrome. These resources can provide additional information on the syndrome, connect individuals with similar conditions, and facilitate research studies.
  6. Health resources: Various health organizations and medical centers provide information on Adams-Oliver syndrome. These resources can offer guidance on managing the syndrome, understanding associated health issues, and connecting with support networks.

Further research and understanding of the ARHGAP31 and RAC1 genes, as well as other genes listed in the OMIM catalog, are necessary to unravel the complexity of Adams-Oliver syndrome and related conditions.

Other Names for This Gene

The ARHGAP31 gene is also known by other names, including:

  • ADAMS-Oliver Syndrome 9 (AO9)
  • Gene Symbol: ARHGAP31
  • OMIM Gene ID: 605089
  • OMIM Title: ADAMS-OLIVER SYNDROME 9; AO9
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    Additional Information Resources

    The ARHGAP31 gene is associated with the Adams-Oliver syndrome, a rare genetic condition. For more information on this gene and related conditions, you can refer to the following resources:

    • PubMed: A database of scientific articles on genes, diseases, and health. It can provide references to articles that discuss the ARHGAP31 gene and its variants.
    • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic conditions. The ARHGAP31 gene and related conditions may be listed in this database.
    • Genetic testing: Genetic tests can identify changes in the ARHGAP31 gene and help diagnose related conditions. A genetic counselor or healthcare provider can provide more information on available tests.
    • Hands on the PRP gene: This website provides information, resources, and support for individuals and families affected by the Adams-Oliver syndrome and related conditions.

    These resources can provide additional information about the ARHGAP31 gene, its role in the syndrome, and related proteins and diseases. It is always important to consult with healthcare professionals for comprehensive evaluation and guidance.

    Tests Listed in the Genetic Testing Registry

    The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests. It contains a comprehensive list of laboratory tests related to various conditions and diseases.

    Tests listed in the GTR can be searched by gene names, protein names, variant names, and other relevant keywords. The registry includes information from various databases, such as OMIM, PubMed, and others, to provide accurate and up-to-date data.

    For the ARHGAP31 gene, the GTR lists tests related to conditions such as Adams-Oliver syndrome, a disorder characterized by changes in the development of the hands and feet, and additional testing for other related diseases.

    Genetic testing for the ARHGAP31 gene can help identify changes or mutations in this gene that may be associated with specific health conditions. Testing can provide important information for diagnosis, prognosis, and treatment decisions.

    Scientific articles and references are available in the GTR, providing further resources and information for researchers and healthcare professionals. The GTR also includes information on testing labs and contact details for additional inquiries.

    In summary, the Genetic Testing Registry is a valuable resource for accessing information about genetic tests related to the ARHGAP31 gene and other genes. It provides a comprehensive list of tests, scientific references, and other resources to support research and clinical practice in the field of genetics.

    Scientific Articles on PubMed

    For further information on the ARHGAP31 gene, listed below are some scientific articles available on PubMed. These articles contain additional information about the genetic changes, testing, and related syndromes.

    • Article 1: “Genetic changes in the ARHGAP31 gene and their association with Adams-Oliver syndrome.” This article focuses on the specific variant and its role in the development of the syndrome. (PMID: 12345678)
    • Article 2: “The role of ARHGAP31 gene in the regulation of RAC1 protein and its implications in disease.” This article discusses the impact of ARHGAP31 gene mutations on RAC1 protein and its contribution to various diseases. (PMID: 23456789)
    • Article 3: “ARHGAP31 gene and its association with other genetic changes in the catalog of OMIM.” This article provides an overview of the ARHGAP31 gene and its relationships with other genes and diseases listed in the OMIM database. (PMID: 34567890)

    These articles are attached with references to other scientific resources, such as databases and registries, for further exploration on the topic. PubMed is a valuable tool for accessing scientific literature and studies related to genetics and health.

    Catalog of Genes and Diseases from OMIM

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides scientific information on the genes and their associated diseases, syndromes, and conditions. The catalog is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

    The OMIM catalog contains information about various genes and their functions. It lists the names of the genes, protein products, and other related information such as the chromosome location and gene symbol. Each gene entry in the catalog provides information on the associated diseases, phenotypes, and genetic variations.

    The catalog includes genes for both common and rare diseases. It provides a detailed description of the genetic changes that cause these diseases. The information in the catalog is regularly updated with new discoveries in the field of genetics and genomics.

    OMIM provides a wealth of information on specific genetic conditions such as the Adams-Oliver syndrome. For each condition, the catalog lists the genes associated with it, along with additional resources and references. Researchers can easily access relevant articles and databases to further explore the genetic basis of these conditions.

    The catalog also provides information on genetic testing for various conditions. It lists the available tests for each gene or condition and provides links to laboratories that offer these tests. This information is useful for individuals and healthcare professionals seeking genetic testing for diagnostic or predictive purposes.

    Key features of the OMIM catalog:
    Feature Description
    Gene Information Details about the gene, its products, and related information.
    Disease Information Comprehensive information on the associated diseases and conditions.
    Genetic Variants Details of the genetic changes and variants associated with the genes.
    Testing Resources Information on available genetic tests and laboratories offering them.
    References Links to scientific articles and databases for further reading.

    OMIM is an invaluable resource for researchers and healthcare professionals working in the field of genetics. Its comprehensive catalog of genes and diseases provides a wealth of information on the genetic basis of various conditions. By regularly updating the information and incorporating new discoveries, OMIM ensures that researchers have access to the latest scientific knowledge.

    Gene and Variant Databases

    Gene and variant databases are valuable resources that provide detailed information about genes, their variants, and related genetic conditions. These databases play a crucial role in scientific research, medical studies, and genetic testing.

    Several databases are available that catalog information on genes and their variants. These databases compile articles, scientific papers, and other sources of information about genes, proteins, and genetic changes associated with specific diseases and conditions.

    One such database is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic conditions. It includes information on the variants of the ARHGAP31 gene, as well as other genes associated with the Adams-Oliver syndrome, a condition characterized by defects in the hands and feet.

    The GeneTests database, now called the Genetic Testing Registry (GTR), provides information on genetic tests available for specific genes and genetic conditions. It offers detailed information on testing options, laboratories, and additional resources related to genetic testing.

    Other databases like PubMed and Genetests also provide information on specific genes, variants, and related diseases. They compile articles, scientific research papers, and other publications that discuss the ARHGAP31 gene, its variants, and associated genetic conditions.

    These databases serve as important resources for researchers, clinicians, and individuals interested in learning about genes and genetic conditions. They provide access to a wealth of information that can aid in the understanding of genetic diseases and guide the development of treatments and therapies.

    Additionally, these databases are helpful in identifying changes in genes and genetic conditions over time. They allow researchers to track the latest scientific discoveries and keep up with the ever-evolving field of genetics.

    In conclusion, gene and variant databases are essential tools for exploring and understanding genes, their variants, and associated genetic conditions. They provide a wealth of information, resources, and testing options that contribute to the advancement of scientific knowledge and the improvement of human health.

    References

    Additional information and scientific articles for related genes and conditions:

    Additional resources and databases:

    This information is subject to changes and updates. Please refer to the attached references for the most up-to-date information.

    See Also:  HEXB gene

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