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The SH2D1A gene, also known as the SH2 domain-containing gene 1A, is a gene that plays a significant role in immune system signaling. Mutations in this gene can result in impaired immune responses, leading to a variety of conditions and diseases.

One of the conditions associated with mutations in the SH2D1A gene is X-linked lymphoproliferative disease (XLP). XLP is a rare genetic disorder characterized by an increased risk of developing lymphoma and other lymphoproliferative diseases. Individuals with mutations in the SH2D1A gene may have impaired immune function, causing an abnormal response to certain infections.

Scientific studies have identified various mutations and variants in the SH2D1A gene that are associated with XLP and related conditions. For additional information on these mutations and their impact on health, several resources and databases are available, including OMIM and the Genetic Testing Registry.

Research articles and references related to the SH2D1A gene can be found on PubMed, a valuable scientific citation database. These articles provide insights into the genetic changes and signaling pathways associated with the SH2D1A gene, contributing to a better understanding of related diseases and potential treatment strategies.

Genetic changes in the SH2D1A gene can result in various health conditions. The SH2D1A gene plays a crucial role in immune system signaling and its impairment can lead to a number of diseases and conditions.

X-Linked Lymphoproliferative Disease

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One of the most prominent health conditions associated with genetic changes in the SH2D1A gene is X-Linked Lymphoproliferative Disease (XLP). XLP is a rare genetic disorder characterized by an impaired immune response, leading to an increased risk of lymphoma and other immunological conditions.

Patients with XLP often experience severe reactions to infections, particularly those caused by the Epstein-Barr virus. XLP is inherited in an X-linked recessive manner, with affected individuals typically being males.

List of Health Conditions

Additional health conditions associated with genetic changes in the SH2D1A gene include:

  • Hemophagocytic Lymphohistiocytosis
  • Lymphoma
  • Immunodeficiency
  • Severe Infectious Mononucleosis

These conditions are listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive database of genetic diseases. The SH2D1A gene is also referred to as the SAP (SLAM-associated protein) gene.

Genetic Testing

Genetic testing can be used to identify mutations or changes in the SH2D1A gene. This testing can aid in the diagnosis of XLP and other related conditions. It can also assist in genetic counseling and determining the risk of XLP in family members.

References and Resources

For more information on health conditions related to genetic changes in the SH2D1A gene, the following resources may be helpful:

  • PubMed – A scientific database with articles on genetics and related topics
  • OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of genetic diseases
  • ClinVar – A database of genetic variants and their clinical significance
  • Lymphoproliferative Disease Registry – A registry for individuals with lymphoproliferative diseases

These resources provide a wealth of information for healthcare professionals, researchers, and individuals seeking to learn more about these genetic conditions.

X-linked lymphoproliferative disease

X-linked lymphoproliferative disease (XLP) is a genetic disorder caused by mutations in the SH2D1A gene. It is an X-linked recessive condition, meaning it primarily affects males. Individuals with XLP have impaired immune system signaling, leading to an increased risk of lymphoma and other lymphoproliferative diseases.

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– XLP is listed in various genetic databases, such as OMIM, GeneReviews, and the Genetic Testing Registry.

– Mutations in the SH2D1A gene are responsible for the development of XLP. This gene encodes the signaling lymphocytic activation molecule-associated protein (SAP), which plays a crucial role in the regulation of immune responses.

– Scientific articles and references on XLP can be found in resources such as PubMed and other scholarly databases. These articles provide additional information on the genetic changes, clinical presentation, diagnostic tests, and treatment options for XLP.

– XLP is characterized by a variety of symptoms, including recurrent infections, lymphomas, and hemophagocytic lymphohistiocytosis. It is essential to consider XLP as a possible diagnosis when evaluating individuals with similar clinical features.

Resources for X-linked lymphoproliferative disease

  • OMIM: The Online Mendelian Inheritance in Man catalog lists genetic conditions and genes associated with XLP.
  • GeneReviews: This resource provides in-depth information on genetic conditions, including XLP, for healthcare professionals and researchers.
  • Genetic Testing Registry: This database contains information on genetic tests available for XLP, including the laboratories offering them.
  • PubMed: A comprehensive database of scientific articles and references related to XLP, its genetic basis, and related conditions.

In conclusion, X-linked lymphoproliferative disease (XLP) is a genetic disorder caused by mutations in the SH2D1A gene. It is associated with impaired immune system signaling and an increased risk of lymphoproliferative diseases. Various resources, such as OMIM, GeneReviews, and PubMed, provide valuable information on the genetic basis, clinical presentation, and diagnostic tests for XLP.

Other Names for This Gene

SH2D1A gene is also known by other names:

  • XLP1
  • SH2D1
  • SAP
  • SAP/SH2D1A
  • SLAM-associated protein 1

This gene is registered in the following databases:

  1. The Online Mendelian Inheritance in Man (OMIM)
  2. The Genetic Testing Registry (GTR)
  3. PubMed
  4. GeneTests

Changes in the SH2D1A gene are associated with various conditions, including:

  • X-linked lymphoproliferative disease
  • Lymphoma
  • Impaired cell signaling
  • Genetic diseases

Scientific articles and references related to this gene can be found on PubMed and other scientific databases.

Testing for mutations in the SH2D1A gene can provide important genetic information and result in improvements in health and disease management.

Additional resources and information about this gene can be found on various genetic and health related websites.

Additional Information Resources

Here is a list of additional resources for more information on the SH2D1A gene:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM provides a catalog of genetic diseases and related genes. You can find more information on SH2D1A gene mutations and associated diseases in their database. Visit their website here.
  • PubMed – PubMed is a database of scientific articles and references. By searching for SH2D1A gene or related keywords, you can access articles that discuss the gene and its implications. You can visit PubMed here.
  • ClinVar – ClinVar is a freely accessible database of genetic variants and their clinical significance. You can find information on SH2D1A gene variants and associated diseases in their database. Learn more about ClinVar here.
  • Immunol (The Immunodeficiency Resource) – Immunol is an online resource that provides information on primary immunodeficiency diseases. You can find information on SH2D1A gene mutations and resulting immunological conditions on their website here.
  • PHGKB (Public Health Genomics Knowledge Base) – PHGKB is a resource that provides information on the translation of genomic research into population health benefits. You can find information on SH2D1A gene and its implications for population health on their website here.

These resources can help you further understand the SH2D1A gene and its role in lymphoproliferative and immunological diseases. Whether you are looking for genetic testing, variant information, or scientific articles, these resources listed above can provide valuable information for your research.

See also  IRF5 gene

Tests Listed in the Genetic Testing Registry

The SH2D1A gene is associated with various genetic diseases, particularly X-linked lymphoproliferative disease (XLP). The mutations in this gene can result in impaired signaling in the immune system, leading to lymphoma and other related health issues.

Genetic testing for the SH2D1A gene can provide valuable information about changes or mutations within the gene that may be affecting an individual’s health. These tests are listed in the Genetic Testing Registry (GTR), which is a comprehensive database of genetic tests and their associated resources.

Some of the tests listed in the GTR for the SH2D1A gene include:

  • ClinVar: A database that provides information on genetic variations and their relationships to diseases. It includes information from various sources, such as scientific literature, clinical databases, and other resources.

  • OMIM: A comprehensive catalog of human genes and genetic disorders. It provides information on the phenotype, clinical features, and molecular genetics of various genetic diseases.

  • PubMed: A database of scientific articles and references related to the SH2D1A gene and its associated diseases. It allows users to search for scientific publications and obtain relevant information.

  • Immunol: A database that specializes in immune-related genes and diseases. It provides information on genes, proteins, pathways, and diseases related to the immune system.

These resources can be used to access additional scientific literature, clinical information, and genetic testing options related to the SH2D1A gene. They provide valuable information for researchers, healthcare providers, and individuals who are interested in learning more about the genetic aspects of X-linked lymphoproliferative disease and related conditions.

Scientific Articles on PubMed

PubMed is an online database that provides access to a wide range of scientific articles related to the SH2D1A gene and its associated conditions. The database contains information on genetics, immunology, and other fields relevant to understanding the role of this gene in health and disease.

Multiple articles on PubMed detail the various mutations, changes, and variants in the SH2D1A gene that result in X-linked lymphoproliferative disease, also known as XLP. These articles provide insights into the impaired signaling and immune responses that occur in individuals with this condition.

The scientific articles listed in PubMed also offer additional resources for researchers and healthcare professionals seeking more information on SH2D1A and related diseases. These resources include references to other databases, such as OMIM (Online Mendelian Inheritance in Man) and the Catalog of Human Genes and Genetic Disorders.

Furthermore, PubMed contains articles that discuss testing methods and diagnostic criteria for identifying SH2D1A mutations in patients with suspected XLP. These articles outline the specific tests and genetic screening techniques used to detect changes in the SH2D1A gene and provide guidelines for the interpretation of test results.

Some scientific articles on PubMed explore the functional domains of the SH2D1A protein and how mutations in these domains can lead to disease. These studies help elucidate the molecular mechanisms underlying XLP and provide insights into potential therapeutic targets.

In summary, PubMed is a valuable resource for accessing scientific articles on the SH2D1A gene and its related conditions. The database contains a wealth of information on genetics, immunology, and other fields relevant to understanding X-linked lymphoproliferative disease and its underlying causes.

Catalog of Genes and Diseases from OMIM

The SH2D1A gene is associated with various diseases and conditions. The following is a catalog of genes and diseases related to SH2D1A from OMIM, a comprehensive database of genetic and scientific information.

  • Testing: Different tests can be performed to detect mutations in the SH2D1A gene, which can help diagnose related diseases.
  • PubMed: PubMed is a widely used resource for accessing scientific articles and references on genetic diseases.
  • Related Genes: Other genes may be related to SH2D1A and contribute to the development of certain diseases.
  • Names: SH2D1A may have additional names or aliases, which can be useful for identifying the gene in various databases and resources.
  • Changes: Different changes or mutations in the SH2D1A gene can result in impaired signaling and lead to various diseases.
  • Result Citation: The citation of the result obtained from genetic testing or research related to SH2D1A mutations.
  • Immunol: Immunology plays a significant role in understanding the genetic basis of diseases associated with the SH2D1A gene.
  • Genetic and Scientific Databases: OMIM is one of the databases that provide information on genes, diseases, and related conditions.
  • Registry and Catalog: The listed registry and catalog of diseases associated with mutations in the SH2D1A gene.
  • Articles and References: Scientific articles and references published in various journals provide valuable information about SH2D1A-related diseases.
  • Other X-Linked Conditions: X-linked conditions may have overlapping features or genetic factors with diseases linked to the SH2D1A gene.
  • Lymphoma and Lymphoproliferative Disease: SH2D1A gene mutations can be associated with lymphoma and lymphoproliferative disorders.
  • Health and Information Resources: Various health resources provide information and support for individuals and families affected by SH2D1A-related diseases.
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Gene and Variant Databases

The SH2D1A gene and associated variants can be found in multiple gene and variant databases. These databases provide comprehensive information on the gene’s characteristics, variants, and their impact on health.

The following are some of the listed gene and variant databases:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic diseases, including the SH2D1A gene. It includes information on the gene’s function, associated disorders, and known variants.
  • X-linked Lymphoproliferative Syndrome Registry: This registry focuses specifically on the SH2D1A gene and its role in X-linked lymphoproliferative syndrome. It provides information on clinical features, diagnostic testing, and management of the syndrome.
  • Immunology Gene Database (IMMUNOL): IMMUNOL is a scientific resource that catalogues genes involved in immunological processes. It includes information on the SH2D1A gene and its role in immune-related conditions such as lymphoma.
  • Institute for Human Genetics Databases: This collection of databases provides information on various genetic conditions, including those associated with the SH2D1A gene. It includes resources for clinicians, researchers, and patients, offering references and tools for genetic testing.
  • PubMed: PubMed is a widely used database that contains articles from scientific literature. Searching for “SH2D1A gene” or related terms on PubMed can provide access to research papers and studies related to this gene and its implications in disease.

These databases are valuable resources for researchers, clinicians, and individuals interested in the SH2D1A gene and its variants. They offer information on genetic changes, related diseases, testing options, and references to additional scientific literature.

References

  • SH2D1A gene – This article on the Scientific Immunol website provides detailed information on the SH2D1A gene. Available at: https://www.scientificimmunol.org/SH2D1A-gene.

  • X-Linked Lymphoproliferative Disease – Information about X-Linked Lymphoproliferative Disease, its genetic mutations and related conditions can be found on the OMIM (Online Mendelian Inheritance in Man) website. Available at: https://www.omim.org/X-Linked-Lymphoproliferative-Disease.

  • SH2D1A Gene – Impaired Signaling from the SH2D1A Gene – This article lists various genetic changes, diseases, and conditions related to impaired signaling from the SH2D1A gene. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3712492/.

  • SH2D1A gene – Additional information on the SH2D1A gene and its implications can be found in the Genetics Home Reference website. Available at: https://medlineplus.gov/genetics/gene/SH2D1A/.

  • SH2D1A – Variants of the SH2D1A gene and their association with diseases are listed in the Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/4068/.

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