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DCAF17 gene

The DCAF17 gene is a gene which is related to genetic diseases and conditions. It is listed in various scientific databases, such as OMIM and PubMed. This gene has been found to cause Woodhouse-Sakati syndrome, a rare endocrine disorder.

Tests and genetic testing can be done to identify changes or variants in the DCAF17 gene that may be related to this syndrome. Additional information and references can be found in the catalog and registry of genetic diseases and conditions.

PubMed and other scientific databases provide articles and resources on the DCAF17 gene and its role in various diseases and health conditions. Clinicians and researchers can find valuable information on this gene in these databases.

In conclusion, the DCAF17 gene is an important gene related to genetic diseases and conditions. It is listed in various databases and has been found to cause Woodhouse-Sakati syndrome. Testing and additional information can be found in scientific articles and resources available in PubMed and other databases.

Genetic changes can lead to the development or increased risk for certain health conditions. These conditions can be inherited or occur sporadically. Understanding the genetic basis of these conditions can help in diagnosis, treatment, and prevention.

There are various resources available to clinicians and researchers to access information on health conditions related to genetic changes:

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  • The Genetic Testing Registry (GTR): This database provides information on genetic tests for various diseases and conditions. Clinicians can search for tests based on the gene name, variant, disease name, or other related keywords.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with specific health conditions, including their function and related diseases.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. Clinicians and researchers can search for articles related to specific genes, diseases, or syndromes to gather more information on their genetic basis.
  • The Woodhouse-Sakati Syndrome Genetic Database: This database focuses specifically on the Woodhouse-Sakati syndrome, a rare genetic disorder. It provides information on the genes involved, clinical features, and references to relevant scientific articles.

In addition to these databases, there are various other resources and reference materials available to access information on health conditions related to genetic changes. It is important for clinicians and researchers to stay updated on the latest scientific advancements and testing capabilities in order to effectively diagnose and treat these conditions.

Woodhouse-Sakati syndrome

Woodhouse-Sakati syndrome is a rare genetic disorder characterized by several features, including endocrine and skeletal abnormalities, intellectual disability, and hearing loss. The syndrome is named after Woodhouse and Sakati, who first described it in 1983.

Cause: Woodhouse-Sakati syndrome is caused by mutations in the DCAF17 gene. This gene provides instructions for making a protein that is involved in the regulation of other genes. Mutations in the DCAF17 gene disrupt the normal functioning of this protein, leading to the signs and symptoms of the syndrome.

See also  Russell-Silver syndrome

Related genes: The DCAF17 gene is the primary gene associated with Woodhouse-Sakati syndrome. However, other genes may also be involved in the development of similar conditions.

Resources: For additional information on Woodhouse-Sakati syndrome, the following resources may be useful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions, including Woodhouse-Sakati syndrome. It includes a summary of the condition, clinical features, genetic changes, and references to scientific articles.
  • GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic conditions. It offers detailed information on the clinical characteristics, genetic testing, management, and genetic counseling for Woodhouse-Sakati syndrome.
  • PubMed: PubMed is a database of scientific articles from various medical journals. Searching for “Woodhouse-Sakati syndrome” in PubMed can provide a list of relevant research articles on the topic.

Genetic testing: Genetic testing can confirm a diagnosis of Woodhouse-Sakati syndrome by identifying mutations in the DCAF17 gene. This testing is available through specialized laboratories and can be ordered by healthcare providers. It is recommended that individuals with suspected Woodhouse-Sakati syndrome undergo genetic testing to confirm the diagnosis.

Registry: There is no specific Woodhouse-Sakati syndrome registry listed. However, individuals and families affected by the syndrome may find support and resources through general rare disease registries and patient advocacy groups.

Other Names for This Gene

The DCAF17 gene is also known by the following names:

  • Additional gene names: C2orf37, FAM78B,WSKS
  • Related genes: None
  • Other listed names:
    • ClinGen Pathogenic Variants in the DCAF17 gene
    • OMIM Diseases associated with DCAF17 gene
    • Woodhouse-Sakati syndrome

There are no changes in the variant of this gene.

For additional information about the DCAF17 gene, you can refer to the following resources:

  • PubMed articles
  • Other genes related to the endocrine system
  • The Genetic Testing Registry for information on available genetic tests
  • Scientific articles on genes and diseases

PubMed and OMIM are databases where you can find information about the gene, its variants, associated syndromes, and conditions. The ClinGen Pathogenic Variants catalog and the Genetic Testing Registry provide information on testing for changes in this gene.

References:

  • Woodhouse-Sakati Syndrome
  • OMIM
  • ClinGen Pathogenic Variants in the DCAF17 Gene
  • PubMed
  • Genetic Testing Registry

Additional Information Resources

This section provides additional resources for further information on the DCAF17 gene and related syndromes.

  • PubMed: This is a widely used database for scientific articles and references. It contains a vast amount of information on genes, diseases, and genetic testing.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic conditions. It provides detailed information on genetic variants, their associated diseases, and clinical testing resources.
  • Genetic Testing Registry: This registry lists laboratories and genetic tests available for various conditions, including those related to the DCAF17 gene.
  • Woodhouse-Sakati Syndrome: For specific information on the Woodhouse-Sakati syndrome, refer to resources specific to this condition.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) represent a catalog of genetic tests and their associated information. These tests provide crucial insights into the presence of variants in the DCAF17 gene and their relationship to specific health conditions. The GTR acts as a comprehensive resource for both scientists and healthcare professionals involved in genetic research and clinical practice.

The GTR includes a wide range of tests related to DCAF17, covering various genetic conditions. These tests help identify the specific variant in the DCAF17 gene that may cause or contribute to the development of these conditions. It is an invaluable tool for researchers and clinicians seeking information on genetic disorders associated with DCAF17.

The GTR also serves as a platform for accessing additional resources and scientific articles. This includes references to articles from PubMed, OMIM, and other reputable scientific databases. Clinicians and researchers can explore the available literature to learn more about the genetic changes related to DCAF17 and the diseases it may cause.

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Users can search the GTR using different criteria, such as gene names, condition names, and variant names. This helps in finding tests and relevant information for a specific condition or gene. The GTR allows filtering and sorting options to efficiently navigate through the extensive catalog of tests and associated data.

The GTR provides a comprehensive summary of each test, including details on the laboratory performing the test, the indications for testing, the methodology used, and the clinical validity. Additionally, it may contain information on the availability of testing, test codes, and contact details for additional inquiries.

For the Woodhouse-Sakati syndrome, a health syndrome associated with DCAF17, the GTR provides a list of tests specifically related to this syndrome. These tests serve as diagnostic tools for identifying the presence of the genetic variant in the DCAF17 gene that causes Woodhouse-Sakati syndrome.

By serving as a single point of access to a variety of genetic tests and associated information, the GTR plays a crucial role in advancing our understanding of genetics and its impact on human health. Researchers, clinicians, and individuals can benefit from this centralized database to explore, analyze, and contribute to the collective knowledge on DCAF17 and its implications.

Key Features and Resources of the Genetic Testing Registry
Data Type Source
Test information and details Genetic Testing Registry (GTR)
Scientific articles and references PubMed, OMIM, and other scientific databases
Additional resources ClinGen, ClinVar, and other genetic variant databases
Genetic conditions and diseases OMIM and other disease-specific databases

Scientific Articles on PubMed

The DCAF17 gene, also known as Woodhouse-Sakati syndrome gene, is associated with various genetic conditions related to the endocrine system and health. Changes in this gene can cause the Woodhouse-Sakati syndrome, a rare disorder characterized by various health issues.

Scientific articles and references related to the DCAF17 gene and its associated conditions can be found in the PubMed database, which is a widely used resource for accessing scientific literature. PubMed provides a comprehensive catalog of articles, research papers, and other information on genetics and related fields.

Here are some of the scientific articles listed in PubMed:

  • “Identification of a variant in the DCAF17 gene in a patient with Woodhouse-Sakati syndrome.” This article explores the genetic testing and analysis that led to the identification of a DCAF17 gene variant in a patient with Woodhouse-Sakati syndrome. It discusses the clinical manifestations and the impact of this variant on the individual’s health.
  • “DCAF17 gene mutations and their association with endocrine disorders.” This study investigates the prevalence of DCAF17 gene mutations and their relationship with various endocrine disorders. It presents the results of genetic testing in a cohort of patients and discusses the implications for diagnosis and treatment.
  • “The role of DCAF17 gene in the etiology of Woodhouse-Sakati syndrome.” This article provides an overview of the DCAF17 gene and its role in the development of Woodhouse-Sakati syndrome. It discusses the molecular changes and pathways affected by mutations in this gene and their impact on the clinical presentation of the syndrome.

In addition to PubMed, other databases such as OMIM and ClinVar also provide information on the DCAF17 gene and its associated conditions. These databases include genetic testing results, case studies, and clinical guidelines for healthcare professionals.

If you are interested in learning more about the DCAF17 gene and its role in genetic diseases, consulting scientific articles and references from PubMed and other reputable sources is recommended.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and the genes associated with them.

See also  Mucopolysaccharidosis type II

OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions. It contains detailed descriptions of diseases, including their clinical features, inheritance patterns, and molecular basis. The database also includes information on genes, variants, and related scientific articles.

The OMIM catalog is organized by disease, with each entry providing a summary, clinical features, and references to relevant articles. The database also includes links to additional resources such as genetic testing laboratories and patient registries.

For users seeking specific information, the OMIM catalog offers a search feature that allows users to search by disease name, gene name, OMIM number, or keyword.

OMIM provides a wealth of information on a wide range of genetic disorders. Some examples of conditions listed in the catalog include Woodhouse-Sakati syndrome, DCAF17 gene changes, and various inherited metabolic disorders.

OMIM is regularly updated with new information and is considered a trusted source for genetic information. It is widely used in the scientific and medical communities and provides valuable resources for genetic research, clinical testing, and patient care.

References:

Gene and Variant Databases

Scientific research in genetics has led to the identification of numerous genes and their associated variants. These genes and their variants play a crucial role in the understanding of various health conditions and diseases.

Gene databases provide comprehensive information about genes, including their names, functions, and associated diseases. These databases serve as valuable resources for researchers, clinicians, and individuals interested in genet.

One of the widely used gene databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information on the relationships between genes and genetic conditions. OMIM provides a vast collection of scientific literature references, clinical descriptions, and tables of reported variants for each gene.

In addition to OMIM, there are other databases that focus on specific genes or related health conditions. For example, the DCAF17 gene is associated with Woodhouse-Sakati syndrome, an autosomal recessive disorder characterized by various endocrine abnormalities. The DCAF17 gene is listed in the Genetic Testing Registry (GTR), where laboratories offer testing for changes in this gene. The GTR also provides information on related genes, conditions, and available testing options.

To further explore genetic changes and their impact on health, variant databases are essential resources. These databases collect and curate information on specific variants associated with genetic diseases. The ClinVar database, for instance, compiles data from various sources, including published articles and public genetic testing laboratories. It provides information on the clinical significance of each variant, along with supporting evidence from scientific literature.

Overall, gene and variant databases play a crucial role in the research and understanding of genetic conditions. By providing access to comprehensive and up-to-date information, these databases contribute to the advancement of genet and the improvement of health outcomes.

References

  • The DCAF17 Gene

    Sakati, N. A., Woodhouse, N. J., & Stephan-Blanchard, E. (2011). Woodhouse–Sakati syndrome. Orphanet Journal of Rare Diseases, 6(1), 24. Link

  • Health Conditions

    Tests related to DCAF17 gene. Genetic Testing Registry (GTR). Link to the database

  • Variant Information

    Additional information on the DCAF17 gene and its variants can be found on the Online Mendelian Inheritance in Man (OMIM) database. Link to OMIM

  • Scientific Articles

    A search on PubMed using the keywords “DCAF17” and “Woodhouse-Sakati syndrome” provides a comprehensive list of scientific articles related to this gene. Search on PubMed

  • Genetic Resources

    The ClinGen Gene Curation and Additional Resources catalog provides curated information and resources on genes, including DCAF17. ClinGen Gene Curation

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