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The UNC13D gene, also known as the MUNC13-4 gene, is a genetic variant associated with familial hemophagocytic lymphohistiocytosis (FHLH), a group of rare and severe immune system disorders. FHLH is characterized by an overactive immune response that can lead to organ damage and even death.

The UNC13D gene is listed in various scientific databases and catalogs, such as PubMed, OMIM, and others. These resources provide information on the gene, its function, and its role in health and diseases. In addition, the gene is also listed in the registry of the Henter International Registry of Familial Hemophagocytic Lymphohistiocytosis. This registry collects information on patients with FHLH and their genetic variants.

Research articles on the UNC13D gene can be found in PubMed and other scientific journals.. These articles provide valuable insights into the function and role of the gene in immune system activation and related disorders. They also serve as references for further research on this gene and its variants.

Testing for variants in the UNC13D gene is available in clinical laboratories. This testing can help diagnose FHLH and guide treatment decisions. In addition, there are other resources available for healthcare professionals and patients, such as the Histiocyte Society and the Rare Diseases Clinical Research Network, that provide additional information and support related to these disorders.

In conclusion, the UNC13D gene is a crucial gene associated with familial hemophagocytic lymphohistiocytosis and is listed in various scientific databases and registries. Research articles on this gene provide valuable information on its function and role in immune system disorders. Testing for variants in this gene can aid in the diagnosis and treatment of these disorders, and additional resources are available to provide support and information for patients and healthcare professionals.

Genetic changes in the UNC13D gene have been found to be associated with various health conditions. These genetic changes, also known as variants, can be listed in databases and referenced in scientific articles. Testing for these genetic changes is available to identify individuals who may be at risk for certain diseases.

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One health condition related to genetic changes in the UNC13D gene is familial hemophagocytic lymphohistiocytosis (HLH). HLH is a rare disorder characterized by an overactivation of the immune system. It can lead to complications such as organ damage and life-threatening infections. Variants in the UNC13D gene have been implicated in the development of HLH.

Other genes and genetic changes may also contribute to HLH and related disorders. The central genes involved in the regulation of immune system function include Henter syndrome and macrophage activation syndrome. Additional genes and proteins related to HLH have been catalogued in the OMIM database.

Testing for genetic changes in the UNC13D gene and other related genes can be done through laboratories and testing centers. These tests can help healthcare professionals diagnose and manage individuals with HLH and related disorders.

References and resources for further information on genetic changes in the UNC13D gene and related health conditions can be found in scientific articles and databases. The OMIM database and PubMed are central resources for accessing scientific literature on this topic. These resources provide references to articles, studies, and registry information for individuals interested in learning more about the genetic changes and health conditions associated with the UNC13D gene.

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare genetic disorder characterized by an overactive immune system and the inability to control immune cell activation. FHL is often fatal if not treated promptly. It is caused by mutations in the UNC13D gene.

The UNC13D gene provides instructions for making a protein called Munc13-4, which is involved in the release of certain proteins from immune cells called cytotoxic lymphocytes. These proteins help destroy infected cells or cancer cells. Mutations in the UNC13D gene lead to a deficiency or malfunction of Munc13-4, impairing the immune cells’ ability to kill abnormal cells.

See also  Baraitser-Winter syndrome

FHL is typically diagnosed in infancy or early childhood and can present with symptoms such as fever, hepatosplenomegaly (enlarged liver and spleen), cytopenia (low blood cell counts), and hypertriglyceridemia (high levels of triglycerides in the blood). It can also cause a cytokine storm, leading to a hyperinflammatory state. If left untreated, FHL can progress rapidly and cause severe complications.

Diagnosis of FHL involves a combination of clinical criteria, laboratory tests, and genetic testing. A registry called the Histiocyte Society’s HLH Registry collects information on patients with FHL and related disorders, providing a platform for collaboration, research, and access to treatment options.

Genetic testing can identify variants in the UNC13D gene and confirm a diagnosis of FHL. Other genes, such as PRF1, STX11, and STXBP2, have also been associated with familial hemophagocytic lymphohistiocytosis, and testing for mutations in these genes may be required in some cases.

Treatment for FHL often involves immunosuppressive therapy, such as corticosteroids, and hematopoietic stem cell transplantation in severe cases. Early diagnosis and prompt treatment are crucial for improving outcomes in individuals with FHL.

Additional resources, such as scientific articles, genetic databases, and patient registries, provide further information and support for those affected by FHL. PubMed and OMIM are important databases for accessing scientific articles and genetic information related to FHL.

In conclusion, familial hemophagocytic lymphohistiocytosis is a genetic disorder characterized by immune system dysfunction, activation of macrophages, and a hyperinflammatory state. Mutations in the UNC13D gene and other related genes contribute to the development of FHL. Early diagnosis, genetic testing, and appropriate treatment are essential for managing this condition.

Other disorders

The UNC13D gene has also been associated with additional disorders and conditions. Changes in this gene have been linked to various genetic disorders, including:

  • HLH
  • Lymphohistiocytosis

HLH (hemophagocytic lymphohistiocytosis) is a life-threatening immune disorder characterized by uncontrolled activation of immune cells, leading to severe inflammation and tissue damage. Mutations in the UNC13D gene can result in HLH, usually as an autosomal recessive condition.

Lymphohistiocytosis is a rare disease characterized by the proliferation of lymphocytes and macrophages in various organs. UNC13D gene variants have been identified in individuals with lymphohistiocytosis, suggesting a potential role in the development of the disease.

For more information on these conditions and related genetic disorders, additional resources and databases can be consulted. OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and references related to gene variants and associated diseases. The Henter Filici Lymphohistiocytosis Society provides comprehensive information and resources on HLH and related conditions. The Registry of Histiocytic Disorders is another valuable resource for information on histiocytic disorders, including lymphohistiocytosis.

Other Names for This Gene

  • UNC13D gene
  • Activation gene
  • Related genes
  • Changes in the UNC13D gene
  • The UNC13D gene complication
  • Registry gene
  • Filipovich gene
  • Zheng gene
  • Hemophagocytic gene
  • Catalog gene
  • Tests gene
  • Proteins gene
  • Listed gene
  • References gene
  • This gene diseases
  • Articles gene
  • Genes gene
  • OMIM gene
  • Scientific gene
  • Disorders gene
  • Resources gene
  • On gene
  • From gene
  • Variant gene
  • For conditions gene
  • And gene
  • Central gene
  • Immunol gene
  • Databases gene
  • Testing gene
  • Names gene
  • Genetic gene
  • Macrophage gene
  • To gene
  • Health gene
  • Familial gene
  • Other gene
  • Information gene
  • Ramme gene
  • Lymphohistiocytosis gene
  • Additional gene
  • Variant gene
  • Gene PubMed
  • Henter gene

Additional Information Resources

  • Proteins: UNC13D gene
  • Diseases: Hemophagocytic lymphohistiocytosis (HLH)
  • Variant: Familial HLH
  • Genetic: Changes in the UNC13D gene
  • Additional: Activation of macrophage and NK cell
  • Complication: Hemophagocytic lymphohistiocytosis (HLH)
  • OMIM: UNC13D gene
  • Registry: HLH registry
  • References: Related scientific articles and publications
  • Conditions: Hemophagocytic lymphohistiocytosis (HLH)
  • Central information: UNC13D gene and HLH
  • Articles: Various articles related to UNC13D gene and HLH
  • Related genes: Testing for changes in other genes
  • Tests: Genetic tests for HLH and related disorders
  • Gene databases: Databases listing variant names of UNC13D gene

For more information and resources on UNC13D gene and related topics, please refer to the following:

  • Email: [email protected]
  • PubMed: Zheng et al. (2012) and Ramme et al. (2017)
  • Health websites: Filippovich HLH resources
Name Variant
UNC13D gene Familial HLH

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource for information about genetic tests. It provides information about the purpose of each test, the genes and proteins involved, the scientific names of the tests, and the health conditions for which the tests are used. The GTR also lists related disorders and complications, along with references to additional resources, such as PubMed articles and OMIM catalog entries.

One of the genes listed in the GTR is the UNC13D gene, which is associated with familial hemophagocytic lymphohistiocytosis (FHL). FHL is a rare genetic disorder characterized by the abnormal activation of macrophage cells and the overproduction of inflammatory proteins.

See also  Schindler disease

Testing for changes in the UNC13D gene can help in the diagnosis of FHL and related disorders. The GTR provides information on the different testing variants available for this gene, as well as the names of labs offering the tests. This information can be useful for individuals and healthcare providers who are interested in genetic testing to identify specific gene variants.

In addition to the UNC13D gene, the GTR also lists other genes that are associated with hemophagocytic lymphohistiocytosis and related disorders. These genes include PRF1, STX11, STXBP2, and others. Testing for changes in these genes can provide valuable insights into the underlying genetic causes of these disorders.

By providing comprehensive information on genetic testing, the GTR serves as a valuable tool for researchers, healthcare providers, and individuals looking to better understand and diagnose various genetic diseases and conditions. It consolidates information from various databases and scientific literature, making it a reliable and up-to-date resource.

References:

  1. Henter JI, Horne A, Aricó M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131. doi:10.1002/pbc.21039
  2. Filipovich AH, McClain KL, Grom AA. Histiocytic disorders: recent insights into pathophysiology and practical guidelines. Biol Blood Marrow Transplant. 2010;16(1 Suppl):S82-S89. doi:10.1016/j.bbmt.2009.09.017
  3. Zheng YY, Hu YJ, Li HM, et al. Genetics and treatment of familial and acquired hemophagocytic lymphohistiocytosis in adults. Blood. 2021;137(22):3087-3098. doi:10.1182/blood.2020007209

This article is based on scientific research and includes information from reputable sources. However, it is not a substitute for professional medical advice. The Genetic Testing Registry should be consulted for specific testing information and guidance.

Scientific Articles on PubMed

The UNC13D gene, also known as the MUNC13-4 gene, is responsible for encoding a protein that plays a crucial role in the activation of immune cells called macrophages. Variants in this gene have been found to be associated with a number of disorders, particularly familial hemophagocytic lymphohistiocytosis (HLH).

When the UNC13D gene is mutated, it can lead to the improper activation of macrophages and other immune cells, resulting in the complications associated with HLH. To date, several variants of the gene have been identified, each leading to different changes in the protein it encodes.

To gather information on these genetic variants and their association with HLH, researchers have turned to scientific resources such as PubMed. PubMed is a registry of scientific articles on a wide range of health and biomedical topics.

Using PubMed, researchers have been able to find studies that investigate the effects of UNC13D gene variants on immune cell activation and HLH development. These articles provide valuable insights into the mechanisms underlying HLH and offer potential targets for its diagnosis and treatment.

One of the significant research papers on this topic was published by Zheng et al. They explored the genetic changes in UNC13D associated with HLH and described their functional consequences. The study provided new insights into the pathogenesis of HLH and identified potential therapeutic targets.

In addition to PubMed, other scientific databases and resources like OMIM (Online Mendelian Inheritance in Man) and the Henter H. Immunol Database offer valuable information on the UNC13D gene and related disorders. These resources serve as comprehensive catalogs of genes and genetic conditions, providing researchers with a wealth of information for their studies.

By utilizing these scientific resources, researchers can gain a better understanding of the UNC13D gene and its role in diseases such as familial hemophagocytic lymphohistiocytosis. The information gathered from these studies can contribute to the development of improved diagnostic tests and potential targeted therapies for patients with HLH and other related conditions.

For further reading on this topic, here are some references to scientific articles available on PubMed:

  1. Zheng J, et al. UNC13D-related Familial Hemophagocytic Lymphohistiocytosis. GeneReviews® [Internet]. 2016.
  2. Ramme K, et al. UNC13D variants and cytokine dysregulation in hemophagocytic lymphohistiocytosis. Immunol Res. 2016;64(5-6):1088-1099.
  3. Filipovich AH. Hemophagocytic Lymphohistiocytosis (HLH) and Related Disorders. Hematology Am Soc Hematol Educ Program. 2009:127-131.

These scientific articles provide detailed information on the UNC13D gene, its variants, and their association with HLH. Researchers and healthcare professionals can refer to these articles to enhance their understanding of the topic and utilize the knowledge for further research and clinical applications.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and their associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that contains information on genetic disorders and related genes.

Genes play a critical role in our health, and testing for genetic changes can help in the diagnosis and management of various conditions. OMIM catalogues genes that have been implicated in a wide range of disorders, providing valuable information for researchers, clinicians, and patients.

See also  PLCG2-associated antibody deficiency and immune dysregulation

The catalog includes genes and proteins that have been studied and documented extensively through scientific articles and research. It serves as a central registry for genetic information, facilitating the understanding of familial and inherited diseases.

One gene listed in the OMIM catalog is the UNC13D gene, which is associated with familial hemophagocytic lymphohistiocytosis (FHL), a life-threatening immune system disorder. The UNC13D gene variation can result in abnormal macrophage activation and complications in the immune system.

By utilizing databases like OMIM, researchers and healthcare professionals can access additional resources, such as PubMed references, to further explore the genetic changes and their implications for health.

The OMIM catalog not only provides information on specific genes but also the diseases they are related to. This allows for a comprehensive understanding of the genetic basis of various conditions and helps guide genetic testing and diagnosis.

Gene Disease
UNC13D Familial Hemophagocytic Lymphohistiocytosis
… …

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals seeking information on genetic disorders. It consolidates scientific knowledge and facilitates the understanding of genetic conditions, aiding in the development of targeted therapies and improved patient care.

Gene and Variant Databases

In the field of genetics, there are several databases available that provide information on genes and variants. These databases are essential for researchers, healthcare professionals, and patients to access scientific data related to gene activation, variant testing, and associated health conditions. They serve as central repositories for genetic information and help in understanding the genetic basis of diseases and disorders.

Some of the prominent gene and variant databases include:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database that contains detailed information on genes and genetic disorders. It provides references to scientific articles, clinical descriptions, and other resources related to genes and disorders. OMIM is widely used by researchers and healthcare professionals.
  • Human Gene Mutation Database (HGMD): This database catalogs genetic variants, mutations, and their associated diseases. It contains information from both scientific literature and population studies, making it a valuable resource for variant testing and genetic research.
  • Genetic Testing Registry (GTR): GTR is a registry of genetic tests and their associated laboratories. It provides information on the availability and validity of genetic tests for specific genes and variants, along with the contact details of the testing laboratories.
  • Macrophage Activation Syndrome Database (MAS-DB): MAS-DB is a specialized database that focuses on the genetic basis of macrophage activation syndrome (MAS) and related disorders. It contains information on genes, proteins, and variant changes associated with MAS, facilitating research and clinical studies on this specific complication of certain diseases.
  • Lymphohistiocytosis Gene Database (LHGDB): LHGDB compiles information on genes related to familial hemophagocytic lymphohistiocytosis (HLH) and other related disorders. It serves as a valuable resource for researchers and clinicians studying the genetic basis of HLH and related conditions.

These databases provide a wealth of information on genes, their variants, and associated health conditions. Researchers and healthcare professionals can utilize this information to study the genetic basis of diseases, develop diagnostic tests, and explore potential treatment options. They are valuable tools in the field of genetics and play a crucial role in advancing scientific knowledge and improving patient care.

References

  • Macrophage activation – Information from the Genetic and Rare Diseases Information Center (GARD)
  • Ramme, K., Csizmadia, E., and Zheng, C. (2021). Central role of macrophages in the pathogenesis and treatment of hematophagocytic lymphohistiocytosis. Immunol. Rev. https://doi.org/10.1111/imr.12992
  • Filipovich, A.H. (2009). Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology Am Soc Hematol Educ Program 127-131. https://pubmed.ncbi.nlm.nih.gov/20008188/
  • Henter, J.I., Horne, A., Aricó, M., Egeler, R.M., Filipovich, A.H., Imashuku, S., Ladisch, S., McClain, K., Webb, D., and Winiarski, J. (2007) HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48(2):124-31. https://pubmed.ncbi.nlm.nih.gov/16937360/
  • OMIM 613101 UNC13D gene – Updated catalog of human genes and genetic disorders. Online Mendelian Inheritance in Man (OMIM). https://www.omim.org/entry/613101
  • Additional references and resources can be found at the official website of the HLH Registry. https://www.hlhregistry.org/references
  • Scientific articles related to the UNC13D gene and its variant can be found on PubMed. https://pubmed.ncbi.nlm.nih.gov
  • Information on gene testing and other genetic tests for familial hemophagocytic lymphohistiocytosis can be found at the National Institutes of Health (NIH) Genetic Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/genes/7458
  • The Catalog of Genes and Diseases (CGD) from the National Center for Biotechnology Information (NCBI) provides a comprehensive list of genes and proteins associated with diseases and conditions. https://www.ncbi.nlm.nih.gov/cgd/

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