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The DDX11 gene, also known as DEAD/H-box helicase 11, is listed as a member of the DExH/D family of genes. This gene encodes a protein that functions as an ATP-dependent DNA helicase. It is involved in DNA repair and replication processes, playing a crucial role in maintaining genomic stability.

Genetic changes in the DDX11 gene have been implicated in a variety of diseases, including Warsaw breakage syndrome. This syndrome is characterized by chromosomal instability, which leads to multiple genetic abnormalities and severe developmental delays. Research has also identified DDX11 gene variants in other conditions related to DNA repair defects.

Tests for DDX11 gene mutations can be performed to provide important information on an individual’s health and risk for certain genetic conditions. These tests, conducted through scientific methods, can detect changes in the DDX11 gene that may be associated with an increased likelihood of developing these diseases.

For more information on the DDX11 gene, related conditions, and testing resources, references and articles can be found in scientific databases such as PubMed. Additional information can also be obtained from the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic variants and related diseases. The National Institutes of Health (NIH) also provides a registry of genetic tests and information on testing laboratories.

Genetic changes in the DDX11 gene can be associated with various health conditions. The DDX11 gene is responsible for providing instructions to produce a protein that plays a crucial role in the breakage and repair of DNA strands during cell division.

Changes, or variants, in the DDX11 gene can result in different conditions. Some of the related health conditions include:

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  • Warsaw Breakage Syndrome: This is a rare genetic disorder characterized by severe microcephaly, intellectual disability, and growth delays.
  • Other Chromatid Breakage Syndromes: Genetic changes in the DDX11 gene can lead to other rare health conditions characterized by the breakage of chromatids, leading to chromosomal instability.
  • Additional Genetic Conditions: There may be other genetic conditions related to changes in the DDX11 gene that are not yet cataloged or fully understood.

To obtain more information about these health conditions and their genetic basis, several resources can be utilized:

  1. OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic conditions. It provides detailed information on various diseases and their associated genes.
  2. PubMed: PubMed is a widely used scientific literature database that contains articles on genetic research and related topics. Searching for the DDX11 gene in PubMed can provide additional scientific articles and research.
  3. Genetic Testing: Genetic testing can be performed to identify variants in the DDX11 gene, which can help diagnose specific health conditions related to these genetic changes. Healthcare professionals can guide individuals in accessing appropriate genetic tests.
  4. The Warsaw Breakage Syndrome Registry: This registry is dedicated to collecting and sharing information on individuals diagnosed with Warsaw Breakage Syndrome.

It is important to consult with healthcare professionals and genetic experts for accurate information and guidance on specific health conditions related to genetic changes in the DDX11 gene.

Warsaw breakage syndrome

Warsaw breakage syndrome is a rare genetic disease which affects the DNA repair process in cells. It is caused by mutations in the DDX11 gene, also known as CHL1, which plays a crucial role in repairing damaged DNA.

See also  Graves' disease

Individuals with Warsaw breakage syndrome have a high sensitivity to DNA damage and are prone to chromosomal breakage. This can lead to various health problems and conditions associated with the syndrome.

The condition was first described in 2003 by the scientists from the Medical Research Council Human Genetics Unit in Edinburgh. They named it Warsaw breakage syndrome because the first identified patient was from Warsaw, Poland.

The Warsaw breakage syndrome is listed in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and is also registered in the Genetic Testing Registry. Additional information about the syndrome can be found in scientific articles published in PubMed and other genetic databases.

Diagnostic testing for Warsaw breakage syndrome involves analyzing the DDX11 gene for changes or variants. Genetic testing can help confirm a diagnosis and provide important information for families affected by the syndrome.

Due to the rarity of Warsaw breakage syndrome, there is limited information available on treatment options. Management of the syndrome typically involves addressing the associated health conditions and providing supportive care.

For individuals and families affected by Warsaw breakage syndrome, it is important to seek guidance from healthcare professionals and genetic counselors. They can provide resources, information, and support for managing the syndrome and its associated conditions.

In conclusion, Warsaw breakage syndrome is a rare genetic disease caused by mutations in the DDX11 gene. It is characterized by a high sensitivity to DNA damage and chromosomal breakage. Limited information and resources are available for this condition, but genetic testing, scientific articles, and genetic databases can provide valuable information and support for affected individuals and families.

Other Names for This Gene

  • The DDX11 gene is also known as:
  1. CATX1
  2. CHD1
  3. DAC2
  4. DEAD/H box 11
  5. E3
  6. ESTRDC3
  7. Flu
  8. Lod
  9. Warsaw breakage syndrome-related protein DDX11
  10. DEADH-box 11

These names are listed on the catalogs and databases which provide information on genetic testing and related conditions. The gene, also called DDX11, is involved in DNA repair and is associated with genetic diseases such as Warsaw breakage syndrome. To find additional information on this gene or its related conditions, resources such as OMIM, PubMed, and scientific articles can be referenced. Genetic tests can be conducted to detect changes or variants in this gene, and the results can provide important health information.

Additional Information Resources

  • Resources:

    • OMIM: This database provides comprehensive information on genetic diseases, including those related to the DDX11 gene.
    • PubMed: Here you can find scientific articles and research papers on DDX11 and its related conditions.
    • Chromatid Breakage Syndrome Registry: The registry offers information on testing, diagnosis, and treatment of DDX11-related syndromes.
    • Warsaw Genomics Catalog: This catalog provides testing services for DDX11 gene mutations and other genetic changes.

  • References:

    • The DDX11 Gene: Genetic Information and Health Conditions: This article provides an overview of the DDX11 gene, its function, associated health conditions, and testing options.
    • Testing for DDX11 Gene Mutations: This resource explains the different tests available to detect DDX11 gene mutations.
    • Genetic Repair Mechanisms: Learn about the role of DDX11 in DNA repair and its implications for human health.
    • Other Genes Related to DDX11: Explore genes that interact with DDX11 and their potential involvement in genetic diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central online resource that provides information on genetic tests for various conditions and diseases. The GTR catalog includes tests for changes (variants) in genes, as well as other genetic tests related to health and disease.

Genetic tests listed in the GTR database can help identify conditions caused by specific changes in genes, such as the DDX11 gene. These tests can provide valuable information about an individual’s genetic makeup and help predict the risk of developing certain diseases.

The GTR database contains a wealth of information on various genetic tests, including which genes are tested, the conditions or diseases associated with those genes, and the scientific names of these genes. Additionally, the GTR provides references to scientific articles and databases such as OMIM, PubMed, and the Warsaw Breakage Syndrome Variant Database, which contain further information on genetic variants and related conditions.

See also  CAVIN1 gene

By listing the tests available in the GTR, individuals and healthcare professionals can easily access information about available genetic tests and their associated conditions. This can be particularly helpful in diagnosing and managing genetic diseases and conditions, as well as understanding the underlying genetic basis of various health issues.

The tests listed in the GTR cover a wide range of conditions and genes. Some tests focus on specific genetic changes, while others look at wider areas of the genome. The GTR also includes tests for chromosomal abnormalities, such as the breakage or rearrangement of chromosomes or chromatids.

In summary, the Genetic Testing Registry serves as a comprehensive catalog of genetic tests, providing essential information on the genes, conditions, and tests available. It is a valuable resource for both healthcare professionals and individuals seeking additional information on genetic testing and its relevance to health and disease.

Scientific Articles on PubMed

The DDX11 gene is a gene that has been extensively studied and researched. There are numerous scientific articles available on PubMed, which is a database that provides information on various topics related to health and diseases.

One important aspect that has been explored in these articles is the variant of the DDX11 gene. This variant is associated with a condition known as Warsaw breakage syndrome, which is characterized by an increased susceptibility to chromosomal breakage. This breakage can lead to various health issues and is often diagnosed through genetic testing.

Genetic testing for the DDX11 gene variant can be done using different methods, including direct sequencing and targeted mutation analysis. These tests help in identifying any changes or mutations in the gene, which can be further analyzed for their impact on health and the development of diseases.

In addition to the DDX11 gene, other genes and genetic conditions are also listed in the scientific articles available on PubMed. These articles provide valuable information on various diseases and conditions, helping researchers and healthcare professionals in their understanding and management.

Moreover, the articles on PubMed also reference other scientific databases and resources, such as OMIM and the Catalog of Genome-Wide Association Studies (GWAS). These resources provide additional information and references to further enhance the understanding of the DDX11 gene and its role in health and diseases.

Overall, the scientific articles available on PubMed provide a wealth of information on the DDX11 gene and its association with Warsaw breakage syndrome and other genetic conditions. They are valuable resources for researchers, healthcare professionals, and individuals interested in learning more about this gene and its impact on health and diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about genetic conditions, including their names, resources, and associated genes. OMIM is a valuable tool for researchers, healthcare professionals, and those interested in genetic health.

The catalog contains a wealth of information on various diseases and conditions, both rare and common. It includes genetic changes, known as variants, that are associated with specific diseases. For each disease, OMIM provides detailed information on its symptoms, inheritance patterns, and available testing options.

OMIM lists genes that are associated with specific diseases or traits. These genes play a role in various biological processes and are essential for normal cellular function. The catalog provides information on the function of these genes and how mutations or changes in their structure can lead to diseases.

In addition to gene-related information, OMIM also includes references to scientific articles and other resources. These references provide further information on the genetic basis of diseases and updates on the latest research findings.

See also  BCOR gene

OMIM is an invaluable resource for genetic testing laboratories and clinicians. It allows them to access information on specific genes and diseases, facilitating accurate diagnosis and appropriate management for patients. This information allows healthcare providers to make informed decisions about testing options and treatment plans.

OMIM is constantly updated with new information and discoveries. It provides researchers with a comprehensive and up-to-date resource for genetic-related studies. The catalog offers a vast amount of information from various sources, such as scientific journals, PubMed, and other databases.

One example of a disease listed in the OMIM catalog is the DDX11 syndrome, also known as Warsaw Breakage Syndrome. This rare genetic disorder is characterized by chromosomal breakage, changes in the structure of chromosomes, and impaired DNA repair in cells. OMIM provides details on the clinical features, genetic testing options, and management guidelines for this syndrome.

Overall, the OMIM catalog serves as a central repository of genetic information, providing valuable insights into the genetic basis of diseases. Its comprehensive and detailed information helps researchers, healthcare professionals, and individuals seeking information about genetic conditions and testing options.

Gene and Variant Databases

Gene and variant databases are essential tools for researchers and healthcare professionals working with genetic syndromes and diseases. These databases provide a wealth of information, including genetic and clinical data, references to scientific articles, and additional resources for further exploration.

One such database is the DDX11 Gene Variant Database, maintained by the Warsaw Breakage Syndrome Registry. This database specifically focuses on the DDX11 gene, which is associated with Warsaw Breakage Syndrome, a rare genetic disorder characterized by extreme sensitivity to DNA-damaging agents.

The DDX11 Gene Variant Database contains detailed information on different variants and their effects on the DDX11 gene. This information can be particularly useful for researchers studying the genetic basis of Warsaw Breakage Syndrome and other related conditions.

Another important gene and variant database is Online Mendelian Inheritance in Man (OMIM). OMIM provides comprehensive information on a vast number of genes and genetic conditions. It includes detailed gene summaries, clinical descriptions, and references to scientific articles.

Researchers and healthcare professionals can also find valuable information in other databases such as PubMed and Epub before Print. These databases contain a vast collection of articles on various genetic syndromes and diseases, providing researchers with up-to-date scientific knowledge.

In addition to gene and variant information, databases often include testing resources. These resources can help researchers find laboratories or clinics that offer genetic testing services for specific genes or variants. This information is crucial for patients seeking confirmatory genetic testing or professionals wanting to explore the genetic basis of a particular disease.

Some databases also provide tools for analyzing genetic data, allowing researchers to compare different genetic sequences or variants. These tools can aid in identifying similarities or differences between genes or variants and help researchers better understand their significance.

In summary, gene and variant databases are invaluable resources for researchers and healthcare professionals working with genetic syndromes and diseases. They provide comprehensive information on genes, variants, testing resources, and scientific articles, aiding in the understanding and diagnosis of genetic conditions.

References

For additional information on related genes, conditions, and tests, please refer to the following resources:

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