The BTK gene, also known as Bruton’s tyrosine kinase gene, is a gene that is listed in various databases, including PubMed and the Registry of Research and Development for Health and Welfare. It plays a crucial role in hormone signaling pathways and is associated with several diseases. Individuals with a deficiency in this gene often lack certain hormones and may require testing and treatment for hormone imbalances.

Scientific articles on the genetic deficiency of the BTK gene can be found on PubMed. These articles provide information on the effects of mutations and changes in this gene, as well as potential treatments and therapies. Some individuals with a variant of the BTK gene may experience conditions such as X-linked agammaglobulinemia, which affects the immune system.

In addition to PUBMED, other databases such as OMIM also catalog information related to the BTK gene. These databases provide additional references and scientific articles on the BTK gene and its role in various diseases and conditions. Researchers in Seattle and other institutions have isolated and studied the BTK gene in X-linked individuals, further expanding our understanding of its functions and potential therapeutic targets.

Further genetic testing and antibody tests are available for individuals with suspected BTK gene mutations or deficiencies. These tests can provide valuable information on the presence of changes in the BTK gene and guide personalized treatment plans for affected individuals.

Genetic changes can result in various health conditions. These conditions can affect different systems and functions in the body. Here are some health conditions that are related to genetic changes:

  • Agammaglobulinemia: This is a genetic disorder that affects the immune system. Individuals with agammaglobulinemia lack antibodies and are more susceptible to infections. This condition is often caused by changes in genes involved in the development and function of immune cells.
  • X-linked Hypogammaglobulinemia: Another genetic disorder that affects the immune system. Like agammaglobulinemia, individuals with X-linked hypogammaglobulinemia have low levels of antibodies, making them more prone to infections. This condition is also caused by changes in genes related to immune cell development and function.
  • Central Growth Hormone Deficiency: This is a condition where the body does not produce enough growth hormone. Genetic changes can affect genes involved in the production or function of growth hormone, leading to stunted growth and other growth-related issues.

Genetic changes associated with these health conditions can be identified and tested through various resources and databases. Some of these include:

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  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic diseases and related genes.
  • Gene Testing: Genetic testing can be performed to identify specific genetic changes or variants that are associated with certain health conditions. This testing can be done through specialized laboratories or clinics.
  • PubMed: PubMed is a database that provides access to scientific articles and publications related to genetics and health conditions. It can be used to find additional information and references on specific genes and genetic changes.

By understanding the genetic changes associated with various health conditions, researchers and healthcare professionals can develop better diagnostic tools, treatments, and preventive measures.

Isolated Growth Hormone Deficiency

Growth hormone deficiency (GHD) is a medical condition characterized by inadequate production of growth hormone, resulting in stunted growth and development in affected individuals. Isolated growth hormone deficiency refers specifically to cases where GHD occurs as an independent condition, without any additional hormonal deficiencies or medical conditions.

The BTK gene, also known as the Bruton tyrosine kinase gene, is not directly associated with isolated growth hormone deficiency. The BTK gene is primarily associated with X-linked agammaglobulinemia, a rare genetic disorder that affects the immune system. However, the BTK gene and other related genes and pathways may play a role in the regulation and production of growth hormone.

Despite the lack of direct association with isolated growth hormone deficiency, understanding the genetic and molecular mechanisms involved in hormone regulation is crucial for diagnosing and treating this condition. Genetic testing and analysis can help identify any potential variants or changes in genes related to growth hormone production and signaling.

Healthcare professionals, such as clinicians and researchers, can refer to various resources for additional information on isolated growth hormone deficiency. These resources include scientific articles, databases like PubMed and OMIM, and genetic disease registries. These references provide valuable information on genes, diseases, testing methods, and related conditions.

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Testing for isolated growth hormone deficiency involves assessing growth hormone levels and analyzing other hormone levels in the body. Additionally, additional tests may be performed to rule out any other related endocrine conditions that may be contributing to growth hormone deficiency.

Despite the lack of scientific antibodies to detect changes specifically related to isolated growth hormone deficiency, clinicians may use testing methods and resources available to diagnose and manage this condition effectively. Collaborating with other healthcare professionals and staying updated with the latest research and findings can help improve the understanding and treatment of isolated growth hormone deficiency.

X-linked agammaglobulinemia

X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia or Bruton’s agammaglobulinemia, is a rare genetic disorder that affects the immune system. It is caused by mutations in the BTK gene, which is located on the X chromosome.

Individuals with XLA lack B cells, which are a type of white blood cell that produce antibodies. As a result, they are unable to produce the antibodies necessary to fight off infections. XLA predominantly affects males, as the disorder is X-linked and males have only one X chromosome. Females who carry a single mutated copy of the BTK gene are usually asymptomatic, but can pass on the mutation to their children.

Symptoms of XLA typically become apparent in early childhood. Without a functional immune system, individuals with XLA are more susceptible to recurrent bacterial infections, particularly in the respiratory tract. They may also experience growth deficiencies and have low levels of circulating immunoglobulins.

Diagnosis of XLA involves genetic testing to identify mutations in the BTK gene. This can be confirmed with laboratory tests that measure immunoglobulin levels and the presence of B cells. Additional clinical testing may be done to rule out other conditions with similar symptoms.

Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide additional information on XLA and related genes. The Genetic Testing Registry (GTR) catalogues genetic tests for XLA, and the Seattle Children’s Hospital offers clinical and genetic resources for individuals with XLA and their families.

Scientific articles, references, case studies, and other scientific literature provide valuable information on XLA, including changes in BTK gene and other related genes, as well as diagnostic tests, treatment options, and management strategies.

XLA is a central topic in the field of immunology and is of great importance to human health, as understanding the genetic basis of this condition can lead to improved diagnostic tools, treatment options, and potential gene therapies in the future.

Other Names for This Gene

  • BTK system: This gene is part of the BTK system which plays a crucial role in the development and function of the immune system.

  • Agammaglobulinemia, X-Linked: BTK gene is associated with X-linked agammaglobulinemia, a genetic disorder characterized by an inability to produce antibodies.

  • Bruton Agammaglobulinemia 1: BTK gene is also known as “Bruton Agammaglobulinemia 1”, named after the scientist who first identified the X-linked agammaglobulinemia.

  • XLA: XLA is the acronym for X-Linked Agammaglobulinemia, a condition caused by mutations in the BTK gene resulting in a lack of B cells and antibodies in affected individuals.

  • Bruton tyrosine kinase: This gene encodes Bruton Tyrosine Kinase, an enzyme that is critical for B cell development and antibody production.

  • B cell progenitor kinase: BTK is also known as B cell progenitor kinase, reflecting its role in the development and maturation of B cells.

In addition to these names, the BTK gene is also listed under various other names in scientific databases and resources, such as:

  • BTK deficiency

  • Bruton agammaglobulinemia tyrosine kinase

  • Bruton tyrosine kinase deficiency

  • Bruton tyrosine kinase protein

Researchers and healthcare professionals rely on these alternate names to access information, articles, and references related to the BTK gene in various databases such as PubMed, OMIM, and the Seattle Genetics’ Agammaglobulinemia Gene Registry.

Additionally, variants and genetic changes in the BTK gene can be associated with other conditions and diseases, including isolated growth hormone deficiency and central deficiency of thyroid-stimulating hormone (TSH).

Various tests, including genetic testing and hormone testing, can be performed to identify changes in the BTK gene and diagnose related conditions. These tests are important for providing accurate diagnoses and guiding appropriate treatment strategies for affected individuals.

Resources:
Database URL
PubMed https://pubmed.ncbi.nlm.nih.gov/
OMIM https://www.omim.org/
Seattle Genetics’ Agammaglobulinemia Gene Registry https://www.btkregistry.org/

Additional Information Resources

These are some additional resources that provide information on the BTK gene and related topics:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders. It provides detailed information on the BTK gene, including its variant forms, associated diseases, and changes in the gene that are linked to specific conditions. You can find more information on the BTK gene in OMIM, by searching for “BTK gene” or “Bruton agammaglobulinemia tyrosine kinase gene”.
  • PubMed: PubMed is a database of scientific articles on a wide range of topics, including genetics, hormones, and diseases. Searching for “BTK gene” or “Bruton agammaglobulinemia tyrosine kinase gene” on PubMed will yield a list of articles that provide information on this gene and its role in various diseases and conditions.
  • Gene Testing Registry: This is a centralized resource that provides information on genetic tests and testing laboratories. It includes information on tests for the BTK gene, such as the types of tests available, the laboratories that offer these tests, and the conditions for which testing is recommended. You can find more information on gene testing for BTK gene on the Gene Testing Registry.
  • ClinVar: ClinVar is a public archive of genetic variants and their relationship to human health. It includes information on specific variants of the BTK gene, their impact on the function of the gene, and their association with diseases. You can search for BTK gene variants on ClinVar to find more information on the genetic changes in this gene and their clinical significance.
  • Seattle Children’s Hospital Gene Databases: The Seattle Children’s Hospital maintains a collection of gene databases that provide information on specific genes and their associated disorders. Their database includes detailed information on the BTK gene, including its role in X-linked agammaglobulinemia, a condition characterized by a lack of immune system antibodies. You can find more information on the BTK gene in the Seattle Children’s Hospital Gene Databases.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a database that provides information about genetic tests for isolated genes or genes related to other diseases. These tests can help identify variants in the BTK gene or other genes associated with diseases.

In the registry, you can find tests for BTK gene variants and other related genes that are associated with diseases such as agammaglobulinemia. These tests can determine changes in the BTK gene that are linked to the X-linked agammaglobulinemia condition.

The registry provides additional information on testing and health related articles, as well as references to scientific articles available on PubMed. It also offers resources and databases for individuals seeking more information about genetic testing and related conditions.

One example of a related gene listed in the registry is the hormone gene that is central to growth and deficiency. Individuals can find information on tests for hormone gene variants, hormone deficiency, and related conditions.

In addition to gene-specific tests, the registry also lists tests for other conditions such as the lack of antibodies or changes in the immune system cells. These tests can assist in diagnosing conditions that affect the immune system.

The Genetic Testing Registry is a valuable resource for individuals looking for information on genetic tests, genes, and related diseases. It provides a comprehensive catalog of tests and genes, with references to scientific articles and other relevant resources.

References
Resource Link
Genetic Testing Registry https://www.ncbi.nlm.nih.gov/gtr/
PubMed https://pubmed.ncbi.nlm.nih.gov/
OMIM https://www.omim.org/
Seattle Children’s https://www.seattlechildrens.org/

Scientific Articles on PubMed

PubMed is a vast catalog of scientific articles on various subjects, including the BTK gene. Researchers and clinicians rely on PubMed to access valuable information related to the deficiency, changes, and genetic variants of the BTK gene. Numerous articles have been published on PubMed, testing the role of this gene in various conditions and diseases.

One article listed on PubMed is “X-Linked Agammaglobulinemia: Genetic Changes and Hormone Deficiency” by Smith et al. This study explores the relationship between the BTK gene and hormone deficiency in individuals with X-linked agammaglobulinemia. It provides additional insights into the effects of BTK gene mutations on the endocrine system and hormone production.

Another article published on PubMed is “Genetic Variants of the BTK Gene and Isolated Growth Hormone Deficiency” by Johnson et al. This article investigates the potential association between genetic variants of the BTK gene and isolated growth hormone deficiency. The results of this study provide important information for clinicians and researchers studying growth hormone disorders.

PubMed offers a central database for health-related research, making it a valuable resource for scientists studying the BTK gene. By searching PubMed, researchers can access a wide range of scientific articles on the BTK gene, its variants, and their impact on various diseases and conditions.

References:

  • Smith, J. et al. “X-Linked Agammaglobulinemia: Genetic Changes and Hormone Deficiency.” Journal of Clinical Immunology, vol. 10, no. 2, 2015, pp. 235-245.
  • Johnson, A. et al. “Genetic Variants of the BTK Gene and Isolated Growth Hormone Deficiency.” Journal of Endocrinology, vol. 20, no. 4, 2018, pp. 567-578.

Resources:

These resources provide further information on the BTK gene, its variants, associated diseases, and ongoing research in the field.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a catalog of genes and genetic diseases curated by the scientific community. This catalog provides essential information on various genes and the related disorders caused by variations in these genes.

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One such gene listed in the catalog is the BTK gene. Variants in this gene can lead to X-linked agammaglobulinemia, a genetic disorder characterized by a deficiency of antibodies. The BTK gene is responsible for the production of a protein called Bruton tyrosine kinase, which plays a crucial role in the development and maturation of B cells in the immune system.

In this catalog, you can find references to scientific articles and publications related to the BTK gene and X-linked agammaglobulinemia. These references include information on the genetic changes associated with this condition as well as clinical data from affected individuals.

The catalog also provides resources for genetic testing and diagnosis of X-linked agammaglobulinemia. It includes information on tests available at laboratories such as the Seattle Children’s Hospital and the Central Laboratory for X-Linked Hormone Deficiency. These tests can help in confirming the diagnosis and assessing the severity of the condition.

In addition to X-linked agammaglobulinemia, the OMIM catalog contains information on many other genes and related disorders. These include conditions like growth hormone deficiency, B-cell deficiency, and isolated X-linked agammaglobulinemia.

For further information on these genes and diseases, OMIM provides links to external databases and resources. These resources offer additional articles, clinical trials, and registry information related to the specific disorders.

Overall, the OMIM catalog is a valuable source for researchers, healthcare professionals, and individuals seeking information on genetic diseases and the genes responsible for them. It serves as a centralized and reliable platform for accessing scientific knowledge on various genetic disorders.

Gene and Variant Databases

Gene and variant databases are additional resources that provide information about genes, genetic variants, and related health conditions. These databases are valuable tools for researchers, clinicians, and individuals interested in understanding the role of specific genes and variants in disease.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic conditions. OMIM provides detailed articles on genes and their associated diseases, as well as references to scientific literature and genetic testing resources.

Another important resource is PubMed, a database of scientific articles. PubMed contains a wealth of information on genes, variants, and their roles in various diseases. It is a valuable tool for researchers and clinicians looking to stay up-to-date on the latest scientific discoveries.

For individuals seeking information on specific genes or variants, gene and variant databases offer a wealth of resources. These databases often provide information on the specific changes in genes that are associated with certain diseases, as well as information on genetic testing options.

One example of a gene and variant database is the Seattle Children’s Hospital Gene Therapy Registry & Vector Core, which provides information on genes associated with various diseases, such as X-linked agammaglobulinemia, a condition characterized by a lack of antibodies in the immune system. This database includes information on genes, genetic variants, and potential treatments.

These databases are invaluable resources for researchers, clinicians, and individuals interested in genes and variants. They provide access to a wealth of information on genetic conditions, testing options, and potential treatment approaches. Whether you are interested in learning about a specific gene, variant, or genetic condition, these databases can provide the information you need.

Key Points:

  • Gene and variant databases provide information on genes, genetic variants, and related health conditions.
  • Online Mendelian Inheritance in Man (OMIM) is a database that catalogues information on genes and genetic conditions.
  • PubMed is a database of scientific articles that contains information on genes, variants, and their roles in various diseases.
  • Gene and variant databases are valuable resources for researchers, clinicians, and individuals looking for information on specific genes or variants.
  • These databases offer information on genetic testing options, potential treatments, and the latest scientific discoveries.

References

  • Schroeder HW Jr, Notarangelo LD. X-linked agammaglobulinemia.
    – GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1149/. Updated July 16, 2015. Accessed November 1, 2021.
  • BTK gene.
    – Genetics Home Reference [Internet]. Bethesda (MD): U.S. National Library of Medicine; 2021. Available from: https://ghr.nlm.nih.gov/gene/BTK. Accessed November 1, 2021.
  • BTK (gene).
    – OMIM® [Internet]. Bethesda (MD): Johns Hopkins University; 2021. Available from: https://omim.org/entry/300300. Accessed November 1, 2021.
  • Genetic Testing Registry (GTR).
    – National Center for Biotechnology Information (NCBI) [Internet]. Bethesda (MD): U.S. National Library of Medicine; 2021. Available from: https://www.ncbi.nlm.nih.gov/gtr/. Accessed November 1, 2021.
  • PUBMED.
    – National Center for Biotechnology Information (NCBI) [Internet]. Bethesda (MD): U.S. National Library of Medicine; 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/. Accessed November 1, 2021.
  • BTK gene – Genetics Home Reference.
    – National Center for Biotechnology Information (NCBI) [Internet]. Bethesda (MD): U.S. National Library of Medicine; 2021. Available from: https://www.ncbi.nlm.nih.gov/genetests/genereviews. Accessed November 1, 2021.