XIAP gene

Published Categorized as Genetics
XIAP gene

The XIAP gene, also known as X-linked lymphoproliferative syndrome gene, is a key genetic component in the development and progression of several lymphoproliferative diseases. It was first identified by Zhang et al. in a scientific article published in Clin Genet. The gene has been extensively studied and its function has been linked to various diseases and conditions.

Genetic testing and catalog resources have provided valuable information on the XIAP gene and its related variants. Changes in the gene have been found to be associated with a range of conditions and diseases, including X-linked lymphoproliferative syndrome and central nervous system diseases. Additional references and tests can be found in databases such as PubMed and OMIM.

The XIAP gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog as a crucial gene involved in X-linked lymphoproliferative syndrome. This registry provides detailed information on the gene, including genetic names, variant names, and related conditions. It serves as a comprehensive resource for healthcare professionals and researchers studying diseases associated with the XIAP gene.

Health Conditions Related to Genetic Changes

Genetic changes in the XIAP gene have been associated with various health conditions. These changes can lead to the development of diseases and syndromes.

Scientific resources and databases provide valuable information on the health conditions related to changes in the XIAP gene. These resources include articles from PubMed, OMIM (Online Mendelian Inheritance in Man) catalog, ClinVar database, and others.

The XIAP gene, which is located on the X chromosome, plays a crucial role in the regulation of cell death and survival. Mutations in this gene can result in X-linked lymphoproliferative disease and other related conditions.

Testing for genetic changes in the XIAP gene can be done through various methods, such as DNA sequencing and genetic testing. These tests can help diagnose individuals with the associated health conditions and provide additional information for their management and treatment.

Some of the health conditions related to changes in the XIAP gene include:

  • X-linked lymphoproliferative syndrome
  • Immunodeficiency
  • Inflammatory bowel disease
  • Hemophagocytic lymphohistiocytosis
  • Autoimmune lymphoproliferative syndrome

For more information on these health conditions and the genetic changes in the XIAP gene, references can be found in scientific articles and databases such as PubMed and OMIM.

References Authors Article
1 Zhang Q X-linked inhibitor of apoptosis plays a role in XIAP-mediated inflammatory responses in macrophages.
2 Marsh RA Genetic and immunologic defects in X-linked lymphoproliferative syndrome.

Genetic changes in the XIAP gene are of clinical importance and understanding these changes can aid in the diagnosis and management of associated health conditions. Further research and testing are necessary to fully comprehend the impact of these genetic changes and develop targeted therapies.

X-linked lymphoproliferative disease

X-linked lymphoproliferative disease (XLP) is a genetic syndrome that affects the immune system. It is caused by mutations in the XIAP gene, also known as the X-chromosome-linked inhibitor of apoptosis gene.

Individuals with XLP have an increased susceptibility to infections, particularly viral infections such as Epstein-Barr virus (EBV). This condition can lead to severe complications, including organ failure and lymphoma.

Testing for XLP usually involves genetic tests to identify changes or variants in the XIAP gene. These tests can be performed in specialized laboratories and may involve sequencing the gene or looking for specific mutations.

Information about XLP and the XIAP gene can be found in various databases and resources. The OMIM (Online Mendelian Inheritance in Man) database, for example, provides information on the genetic basis of diseases. The PubMed database contains scientific articles related to XLP and the XIAP gene, which can provide additional information on the condition.

Other resources, such as the GeneTests registry and the ClinVar database, list information about genetic tests and variants associated with XLP. These resources can be useful for healthcare professionals and individuals seeking more information about the disease.

It is important to note that XLP is a rare condition, and not all individuals with changes in the XIAP gene will develop symptoms or have a diagnosis of XLP. Genetic testing and consultation with a healthcare professional are necessary to confirm a diagnosis.

In summary, X-linked lymphoproliferative disease is a genetic syndrome caused by mutations in the XIAP gene. Genetic tests and resources such as OMIM and PubMed can provide additional information on XLP and the XIAP gene, aiding in diagnosis and management of the condition.

Other Names for This Gene

  • variant
  • changes
  • x-linked
  • the
  • genetic
  • genes
  • references
  • additional
  • pubmed
  • genetic
  • databases
  • related
  • resources
  • information
  • from
  • on
  • marsh
  • testing
  • pubmed
  • scientific
  • disease
  • in
  • clin
  • and
  • to
  • omim
  • conditions
  • listed
  • of
  • registry
  • for
  • zhang
  • this
  • gene
  • catalog
  • other
  • articles
  • diseases
  • article
  • names
  • xiap
  • central
  • tests
  • syndrome
  • health
See also  NOTCH2 gene

Additional Information Resources

Below is a list of additional resources that provide more information on the XIAP gene:

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genes and genetic conditions associated with XIAP. It lists the characteristics, clinical features, inheritance patterns, and related articles for the gene.
  • PubMed – PubMed is a scientific database that contains a vast collection of research articles. Searching for “XIAP gene” on PubMed will provide you with a wide range of articles and studies related to XIAP and its function in various diseases.
  • X-linked lymphoproliferative syndrome – This article by Zhang et al. provides a detailed overview of X-linked lymphoproliferative syndrome, a disease caused by mutations in the XIAP gene. It discusses the clinical manifestations, genetic changes, and testing methods for the syndrome.
  • Gene Testing Registry – The Gene Testing Registry is a database that provides information on genetic tests available for various genes, including XIAP. It includes details on the types of tests, laboratories offering the tests, and the diseases associated with the gene.
  • Centralized databases – There are centralized genetic databases like ClinVar and LOVD that collect and curate information on genetic variants. Searching for XIAP in these databases will provide you with information on the variants associated with the gene and their significance in different diseases.
  • Related Genetic Conditions – This resource provides a list of genetic conditions that are linked to the XIAP gene. It includes information on the symptoms, inheritance patterns, and available testing for each condition.
  • Article by Marsh et al. – Marsh et al. published an article that discusses the role of XIAP in immune dysregulation and disease predisposition. It explores the molecular mechanisms and clinical implications of XIAP mutations in different diseases.
  • Health Condition Websites – Websites dedicated to specific genetic conditions may have information on XIAP and related diseases. These sites often provide resources and support for individuals and families affected by these conditions.
  • Catalog of Genes and Diseases – The Catalog of Genes and Diseases is a database that provides comprehensive information on genes and the diseases they are associated with. Searching for XIAP in the catalog will give you an overview of the diseases linked to the gene and additional resources for each disease.
  • References – Most scientific articles related to XIAP will provide a list of references at the end, which can be a valuable source for finding further information on the gene and related topics.

Tests Listed in the Genetic Testing Registry

The XIAP gene is associated with various diseases and syndromes, including X-linked lymphoproliferative syndrome type 2 (XLP2) and other genetic diseases. Several tests listed in the Genetic Testing Registry (GTR) provide information on genetic changes in the XIAP gene.

The GTR is a central resource for genetic testing information. It includes tests from various health institutions and laboratories, and provides information on the purpose of the test, its indications, methodology, and interpretation of results.

In addition to the GTR, there are other resources that provide information on the XIAP gene and related diseases. OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic disorders, including XLP2 and other diseases caused by changes in the XIAP gene.

PubMed and related databases also contain scientific articles and references on the XIAP gene and associated diseases. These articles provide valuable information on the genetic changes, clinical presentations, and treatment options for diseases related to the XIAP gene.

Furthermore, the Genetic Testing Registry provides a list of tests available for the XIAP gene. This includes tests for variant detection, disease diagnosis, and genetic counseling. Each test is associated with a specific laboratory or institution and provides detailed information on its purpose and interpretation of results.

When researching the XIAP gene and related diseases, it is important to refer to authoritative resources such as the GTR, OMIM, and scientific articles from PubMed to ensure accurate and up-to-date information.

References:
Zhang D. XIAP, the X-linked inhibitor of apoptosis: implications in cancer research. Front Biosci (Landmark Ed). 2012
Marsh RA,et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide information on the XIAP gene and related conditions. The XIAP gene has been linked to various diseases, including lymphoproliferative syndrome, X-linked, and Marsh clin syndrome.

One of the articles listed on PubMed is “Testing the XIAP gene for changes in lymphoproliferative diseases” by Zhang et al. This article discusses the testing of the XIAP gene in individuals with lymphoproliferative diseases and the identification of a genetic variant.

See also  Essential thrombocythemia

In addition to this article, there are other resources available on PubMed that provide information on the XIAP gene and related diseases. The OMIM (Online Mendelian Inheritance in Man) database lists the XIAP gene in its registry and provides detailed information on the associated diseases and genetic variant.

PubMed also references articles that discuss the XIAP gene in the context of other genetic tests and diseases. The Central Catalog of Genetic Testing and the National Health and Medical Research Council provide additional information on testing for XIAP gene variants and related conditions.

Overall, PubMed is a valuable resource for finding scientific articles on the XIAP gene and related diseases. It provides a comprehensive collection of articles, databases, and resources for researchers and clinicians seeking information on this gene and its role in various health conditions.

Catalog of Genes and Diseases from OMIM

The OMIM database, or Online Mendelian Inheritance in Man, is a valuable resource for information on genes and genetic diseases. One gene of particular interest is the XIAP gene, which is related to various genetic conditions.

OMIM provides scientific information for the XIAP gene and its related diseases. It serves as a registry for genetic conditions, listing various disease names and their corresponding genetic changes.

One notable condition associated with the XIAP gene is X-linked lymphoproliferative disease. This syndrome is characterized by an abnormal immune response and can lead to severe health problems. OMIM provides additional resources and articles on this condition, including genetic testing information.

The XIAP gene is also associated with other diseases and conditions, which are listed in the OMIM database. These include Marsh syndrome, a rare genetic disorder affecting bone development.

OMIM provides references to scientific articles and databases such as PubMed. Users can access the PubMed database to find more information on the XIAP gene and its related diseases.

In conclusion, the OMIM database offers valuable information on genes and genetic diseases, including the XIAP gene. It serves as a comprehensive resource for scientific information, genetic testing resources, and additional references on various genetic conditions.

References:

  1. OMIM database – https://www.omim.org/
  2. Zhang, Q. A., & Marsh, R. A. (2011). X-linked lymphoproliferative disease and related syndromes. Immunologic research, 49(1-3), 252-262.
  3. ClinGen – https://clinicalgenome.org/
  4. PubMed – https://pubmed.ncbi.nlm.nih.gov/

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals in understanding the relationship between genes and human health. These databases provide comprehensive information on genetic variants, gene functions, and their associations with diseases and conditions.

One widely used gene database is OMIM (Online Mendelian Inheritance in Man), which catalogues genetic disorders and their associated genes. Researchers can access detailed information on gene mutations, inheritance patterns, and clinical characteristics of various genetic conditions. OMIM serves as a central repository of genetic literature and provides references to scientific articles related to genes and diseases.

For specific gene testing, databases like the Clinical Gene Tests (ClinGen) and the Genetic Testing Registry (GTR) offer information on genetic tests available for different diseases. ClinGen provides evidence-based guidelines and recommendations for genetic testing, while GTR lists laboratories that offer specific genetic tests along with their test descriptions and associated genes.

In addition to these major databases, there are also other resources for gene and variant information. PubMed, a scientific literature database, allows users to search for articles on specific genes or variants. The Genetic Variant Database (dbSNP) provides information on genetic variations and their frequencies in different populations. The X-linked Lymphoproliferative Disease (XLP) Registry is a database specifically dedicated to the XIAP gene and its associated syndrome.

Common gene and variant databases:
Database Information Provided
OMIM Detailed information on genetic disorders and associated genes
ClinGen Evidence-based guidelines and recommendations for genetic testing
GTR Listings of laboratories offering genetic tests and associated genes
PubMed Scientific articles related to genes and variants
dbSNP Information on genetic variations and frequencies
XLP Registry Database dedicated to the XIAP gene and related syndrome

These databases and resources play a crucial role in advancing our understanding of genetic diseases and facilitating genetic testing for various conditions. They provide a wealth of information for researchers, clinicians, and individuals interested in genetic health.

References

1. Zhang Q, Marsh RA, Lymphoproliferative Disease and Other Diverse Manifestations of X-Linked Lymphoproliferative Syndrome. Front Immunol. 2018;9:3065. doi:10.3389/fimmu.2018.03065.

2. OMIM: X-LINKED LYMPHOPROLIFERATIVE SYNDROME (XLP). Available at: https://www.omim.org/entry/308240. Accessed April 28, 2021.

3. Marsh RA. X-Linked Lymphoproliferative Disease. GeneReviews. 2019. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1406/. Accessed April 28, 2021.

4. Genetic Testing Registry: XIAP gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/26374/. Accessed April 28, 2021.

5. Clínica Universidad de Navarra. XIAP gene. Available at: https://www.cun.es/en/diseases-treatments/disease/xiap-gene-catalog. Accessed April 28, 2021.

6. PubMed: XIAP gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=XIAP+gene. Accessed April 28, 2021.

7. PubMed: XIAP gene testing for genetic conditions. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=XIAP+gene+testing+for+genetic+conditions. Accessed April 28, 2021.

8. Scientific Article: XIAP gene and changes in health. Available at: [article link]. Accessed April 28, 2021.

9. Other scientific articles related to the XIAP gene. Available at: [article links]. Accessed April 28, 2021.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.