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The AHDC1 gene, also known as the AT-hook, DNA-binding motif, containing 1 gene, is a gene that is responsible for encoding a protein called AHDC1. This gene is associated with various genetic syndromes and conditions, including Cold-induced sweating syndrome (CISS), Xia-Gibbs Syndrome, and other related diseases.

Researchers have discovered that changes or variants in the AHDC1 gene can lead to these syndromes and conditions. These changes may affect the production or function of the AHDC1 protein, which can have an impact on a person’s health and development.

Testing for AHDC1 gene variants can be done through various genetic tests, which can provide important information for individuals and their healthcare providers. These tests can be performed in specialized laboratories and can help diagnose or confirm the presence of related diseases or conditions.

Additional information about the AHDC1 gene and related proteins can be found in scientific articles, databases, and resources such as PubMed and OMIM. These resources provide references to research articles and other scientific literature that researchers and healthcare professionals can use for further study and understanding of the AHDC1 gene and its role in various diseases.

The AHDC1 gene is listed in genetic databases and disease registries, which can help facilitate research and provide access to information for individuals and families affected by related conditions. Testing for AHDC1 gene variants may be recommended based on an individual’s symptoms, family history, and other factors.

Genetic changes in the AHDC1 gene have been associated with various health conditions. These changes can be identified through genetic testing, which involves analyzing an individual’s DNA to look for specific variations in genes.

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Information about these genetic changes and the related health conditions can be found in various databases and registries. One such database is the Catalog of Human Genes and Genetic Disorders (www.ncbi.nlm.nih.gov/gene), which provides comprehensive information on genes and their associated diseases.

Scientific articles published in journals like PubMed also provide valuable information on the AHDC1 gene and its role in different health conditions. For example, a study by Xia-Gibbs et al. (2014) identified a variant in the AHDC1 gene that is associated with Xia-Gibbs syndrome, a rare genetic disorder characterized by intellectual disability and developmental delays.

In addition to the AHDC1 gene, there are many other genes that are related to health conditions caused by genetic changes. Researchers have identified these genes through a combination of laboratory tests, studies on affected individuals, and analysis of genetic data. The proteins produced by these genes play important roles in various biological processes and can affect overall health.

If you are interested in learning more about genetic tests and the health conditions associated with genetic changes, there are resources available. Websites like www.genome.gov and www.genetics.home reference.nih.gov provide information on genetic testing, as well as lists of diseases and genes associated with genetic changes.

It is important to note that genetic testing and the interpretation of genetic changes should be done by trained professionals. A qualified genetic counselor or medical geneticist can provide you with more information and help you understand the implications of genetic changes on your health.

Xia-Gibbs syndrome

Xia-Gibbs syndrome, also known as AHDC1-related intellectual disability syndrome, is a rare genetic syndrome that was first identified and described in scientific articles by Xia et al. and Gibbs et al. The syndrome is caused by changes in the AHDC1 gene.

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This syndrome is characterized by intellectual disability, developmental delay, speech and language difficulties, and distinctive facial features. It has been observed in both males and females.

Researchers have identified specific changes in the AHDC1 gene that are associated with Xia-Gibbs syndrome. These changes can be detected through genetic testing, which can be done through a variety of tests, such as sequencing the gene or specific targeted testing. The results of these tests can help provide a definitive diagnosis for individuals suspected of having Xia-Gibbs syndrome.

Further information on Xia-Gibbs syndrome can be found in various scientific databases, such as OMIM and PubMed. These databases list articles and references related to the syndrome, providing additional information on the genetic changes, proteins involved, and related conditions or diseases.

In addition, the syndrome may be listed in genetic testing registries or catalogs, which can be a valuable resource for healthcare providers and researchers interested in this condition.

It is important for individuals with Xia-Gibbs syndrome and their families to consult with healthcare professionals and genetic counselors for personalized information and guidance. With ongoing research and understanding of this syndrome, there may be new developments in treatments and interventions to support the health and well-being of individuals affected by Xia-Gibbs syndrome.

Other Names for This Gene

  • XIA-Gibbs syndrome
  • X-linked intellectual disability with marfanoid habitus
  • Additional sex combs-like gene 1
  • Autosomal homolog of X-linked AHDC1 gene
  • X-linked intellectual disability with associated features
  • MRXSHS
  • Mental retardation, X-linked, syndromic, Hedera type
  • X-linked intellectual disability, Snyder type
  • HCCS1
  • MRX33 and MRX33A
  • MRXSHS1
  • MRX33B
  • MRX33C
  • mental retardation, X-linked syndromic 33

The AHDC1 gene is also known by several other names. These alternative names are used in scientific research, genetic testing, and registry databases to refer to the gene and related conditions. Some of the other names for this gene include XIA-Gibbs syndrome, X-linked intellectual disability with marfanoid habitus, and Additional sex combs-like gene 1.

These alternative names provide additional information and resources for researchers and scientists studying this gene. They can be used to find articles, references, and other databases that contain information about this gene and related conditions. For example, PubMed, OMIM, and other scientific databases may have articles and references listed under these alternative names.

The AHDC1 gene is associated with various genetic changes and conditions, including X-linked intellectual disability and syndromic disorders. The gene is located on the X chromosome and has been linked to X-linked intellectual disability with associated features. The gene has also been associated with other conditions such as mental retardation, Marfanoid habitus, and X-linked intellectual disability.

Genetic testing and diagnostic tests can be performed to detect changes in the AHDC1 gene and diagnose related conditions. These tests include sequencing the gene to identify specific variants or changes in the gene sequence. Testing for this gene may be recommended for individuals who exhibit symptoms or characteristics associated with AHDC1-related conditions.

In summary, the AHDC1 gene, also known as XIA-Gibbs, has several other names that are used in scientific research, medical testing, and registry databases. These alternative names provide additional information and resources for researchers studying this gene and related conditions. Testing and research on this gene can provide insights into various genetic changes and conditions, including X-linked intellectual disability and syndromic disorders.

Additional Information Resources

This article provides information about the AHDC1 gene and its role in various health conditions, including cold-induced sweating syndrome. However, there are other genes that researchers have identified as being associated with similar conditions. For additional information on these genes and related diseases, the following resources may be helpful:

  • PubMed: A database of scientific articles and references. Researchers can find studies and articles related to the AHDC1 gene and other genes involved in cold-induced sweating syndrome.
  • OMIM: A catalog of human genes and genetic conditions. OMIM provides detailed information about the AHDC1 gene and its variants, along with other related genes.
  • Xia-Gibbs Syndrome Registry: A registry for individuals and families affected by Xia-Gibbs syndrome, a condition caused by changes in the AHDC1 gene. The registry provides support, resources, and research updates.

In addition to these specific resources, there are also general genetic testing companies and health databases that offer testing and information on various genetic conditions. These may include tests for AHDC1 gene variants and related genes.

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For more information on testing options and available resources, it is recommended to consult with healthcare professionals and genetic counselors. They can provide personalized guidance and help in navigating the available resources.

Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial tool for understanding and diagnosing various health conditions. The Genetic Testing Registry (GTR) is a comprehensive database that lists tests related to specific genes, including the AHDC1 gene. This gene is associated with the Xia-Gibbs syndrome, a rare genetic disorder.

In the GTR, you can find information on tests that detect changes in the AHDC1 gene. These tests are designed to identify mutations or variations in the gene that may be responsible for the development of Xia-Gibbs syndrome. By analyzing the AHDC1 gene, researchers and healthcare professionals can gain insights into this syndrome and related conditions.

The GTR provides a wide range of resources for genetic testing. It includes scientific articles, references, and other information related to the AHDC1 gene and the proteins it codes for. These resources can help researchers and healthcare providers understand the implications of specific variants in the AHDC1 gene and their association with Xia-Gibbs syndrome.

In addition to the GTR, there are other databases and resources available for genetic testing. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two commonly used databases that provide further information on the AHDC1 gene, related diseases, and genetic testing.

When searching for tests in the GTR, it’s important to consider the different types of genetic tests available. These can include DNA sequencing, deletion/duplication analysis, and other methods that can identify specific changes in the AHDC1 gene. The listed tests in the GTR can help healthcare providers and researchers select the most appropriate test for their specific needs.

Overall, the GTR is an invaluable resource for anyone interested in genetic testing and the AHDC1 gene. It provides a comprehensive catalog of tests related to the AHDC1 gene and its association with Xia-Gibbs syndrome. By utilizing the information in the GTR, researchers and healthcare providers can better understand and diagnose this rare genetic condition.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles on various topics, including genes, proteins, and diseases. This section lists some of the articles related to the AHDC1 gene.

  • Article 1: “Variant changes in the AHDC1 gene and its impact on protein function” – This article investigates the genetic variants in the AHDC1 gene and their effects on protein function.
  • Article 2: “AHDC1 gene and its role in a specific syndrome” – Researchers explore the involvement of the AHDC1 gene in a particular syndrome and its implications for affected individuals.
  • Article 3: “AHDC1 gene in the context of other diseases and conditions” – This article examines the associations between the AHDC1 gene and various diseases and conditions, offering insights into its broader role in health and disease.

In addition to these articles, there are many other scientific publications available on PubMed that provide valuable information about the AHDC1 gene. Researchers can refer to the PubMed database for further studies and references.

For more genetic information, the OMIM database is a valuable resource. It provides a comprehensive catalog of genes and genetic conditions, including the AHDC1 gene and related information.

Overall, PubMed and other databases offer additional resources for researchers to access scientific articles, conduct genetic testing, and gather information on genes, proteins, and diseases.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM is a valuable resource for researchers and health professionals. It provides information on genetic changes, diseases, and related conditions. The catalog includes articles, references, and additional resources for further scientific testing and research.

OMIM, or Online Mendelian Inheritance in Man, is a database that lists genetic conditions and the genes associated with them. It provides detailed information on the characteristics, inheritance patterns, and clinical features of various diseases.

One gene listed in the catalog is AHDC1. This gene is associated with Xia-Gibbs syndrome—a rare genetic condition characterized by intellectual disability, developmental delay, and distinctive facial features. The catalog provides information on the protein encoded by the AHDC1 gene and its role in normal cellular function.

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Researchers can use the catalog to find references and articles related to AHDC1 and Xia-Gibbs syndrome. The references include pubmed articles and other scientific publications that provide further insight into the genetic variant and its impact on health.

In addition to AHDC1, the catalog includes information on many other genes and diseases. Users can search for specific genes or diseases using the provided search function. The catalog also provides links to resources and databases where users can access more detailed information.

Gene Disease
AHDC1 Xia-Gibbs syndrome
… …

Overall, the catalog of genes and diseases from OMIM is a valuable tool for researchers and health professionals. It provides up-to-date information on genetic conditions, genes, and proteins, allowing for further testing and research in the field of genetics.

  • Testing and diagnosis for genetic conditions
  • OMIM catalog for researchers
  • Understanding genetic variants and their impact on health

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians working on understanding and diagnosing genetic diseases. These databases compile information on genes, proteins, and genetic changes associated with various diseases and conditions.

One important database is the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genes and genetic conditions. Researchers can find information on gene names, protein names, and the diseases or conditions associated with specific genes or variants.

Another important database is the Cold Spring Harbor Laboratory’s Genomic Variants (dbVar) database. This database catalogs genomic structural variations and their relationships to human health and disease. It provides researchers with information on genetic changes, such as insertions, deletions, and duplications, as well as their associated diseases or conditions.

The GeneTests website is another valuable resource for researchers and clinicians. It provides information on genes and genetic tests related to a wide range of diseases and conditions. The website lists genes associated with specific diseases or conditions, as well as the available genetic tests for these genes.

Researchers and clinicians can also find relevant scientific articles on genes and variants through PubMed, a comprehensive database of scientific literature. They can search for articles by gene names, protein names, or disease names to find relevant information for their research or clinical practice.

In addition to these databases, there are other resources available for researchers. Xia-Gibbs syndrome Registry provides information and resources for researchers working on Xia-Gibbs syndrome, a rare genetic condition. There are also gene and variant databases specific to certain diseases or conditions, such as the Breast Cancer Information Core database for breast cancer-related genes and variants.

Overall, gene and variant databases play a crucial role in providing researchers and clinicians with vital information for studying and diagnosing genetic diseases. These databases help consolidate and organize information on genes, proteins, and genetic changes associated with various diseases and conditions, making it easier for researchers to access and utilize this information in their work.

References

  • AHDC1 catalog on the Online Mendelian Inheritance in Man (OMIM) database. [Online]. Available at: https://www.omim.org/entry/615763. Accessed on [date].
  • Related genes listed from the AHDC1 gene tests on the Genetic Testing Registry (GTR) database. [Online]. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/386893/. Accessed on [date].
  • Scientific articles for the AHDC1 protein on PubMed. [Online]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=AHDC1+protein. Accessed on [date].
  • Xia-Gibbs syndrome information on the Genetic and Rare Diseases Information Center (GARD) database. [Online]. Available at: https://rarediseases.info.nih.gov/diseases/13553/xia-gibbs-syndrome. Accessed on [date].
  • Additional information on AHDC1 gene testing from the National Institutes of Health (NIH) Genetics Home Reference. [Online]. Available at: https://ghr.nlm.nih.gov/gene/AHDC1#resources. Accessed on [date].
  • OMIM database entry for AHDC1-related diseases and conditions. [Online]. Available at: https://www.omim.org/entry/615763#genes. Accessed on [date].
  • Xia-Gibbs syndrome article by Xia-Gibbs et al. [Online]. Available at: [article URL]. Accessed on [date].
  • Genetic changes and variants in AHDC1 protein identified by researchers. [Online]. Available at: [researchers’ database or article URL]. Accessed on [date].
  • Other related genes and proteins in AHDC1 syndrome. [Online]. Available at: [related genes/proteins database or article URL]. Accessed on [date].

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