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The FAS gene is a member of the tumor necrosis factor receptor superfamily and plays a crucial role in regulating cell death. Mutations in this gene have been identified in several diseases and conditions, including autoimmune lymphoproliferative syndrome, juvenile idiopathic arthritis, and certain types of lymphoma. The FAS gene encodes a protein that is involved in the signaling pathway leading to apoptosis, or programmed cell death.

Scientific research on the FAS gene has provided valuable information about its role in various health conditions. For example, studies have shown that changes in the FAS gene can contribute to the development of autoimmune diseases, such as rheumatoid arthritis. Testing for FAS gene mutations can be performed to help diagnose these conditions and inform treatment decisions.

The FAS gene is also known by other names, including APO-1, CD95, and TNFRSF6. It is cataloged in databases such as OMIM and PubMed, which provide additional resources and references for further research. These databases contain articles and scientific information about the FAS gene and its related disorders.

Understanding the function and regulation of the FAS gene is important for the development of targeted therapies and treatments for diseases associated with its dysregulation. Further research is needed to fully comprehend the complex role of the FAS gene in the body’s immune system and its potential implications for cancer, autoimmune disorders, and other conditions.

Genetic changes in the FAS gene can lead to various health conditions. These conditions can include:

  • Familial Hemophagocytic Lymphohistiocytosis (FHL): This is a rare disorder characterized by immune system dysfunction, leading to excessive inflammation and damage to organs. FHL can be caused by mutations in the FAS gene, resulting in impaired immune cell signaling and regulation.
  • Juvenile Rheumatoid Arthritis (JRA): This is a chronic autoimmune disease characterized by joint inflammation and swelling in children and adolescents. Some cases of JRA have been linked to genetic variations in the FAS gene.
  • Autoimmune Lymphoproliferative Syndrome (ALPS): ALPS is a condition characterized by abnormal lymphocyte survival, leading to an accumulation of lymphocytes and increased risk of lymphoma. Genetic changes in the FAS gene can result in ALPS.

These are just a few examples of the health conditions related to genetic changes in the FAS gene. There may be additional conditions that are not listed here. It is important to consult scientific literature, databases, and genetic testing resources for more information on specific genes related to these conditions.

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References:

  1. Zhou, Z., Bai, F., Zhang, X., & Xiong, W. (2018). Role of Fas signaling in the pathogenesis of rheumatoid arthritis and other associated autoimmune diseases. Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 27(7), 1031–1036. PubMed
  2. Autoimmune lymphoproliferative syndrome, type Ib; ALPS1B. (2021). OMIM. Retrieved from https://omim.org/entry/601859
  3. McKusick, V. A. (2007). Autoimmune Lymphoproliferative Syndrome. In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by abnormal lymphocyte apoptosis, resulting in lymphoproliferation and autoimmune symptoms. It is caused by mutations in the FAS gene. ALPS can manifest with a variety of symptoms, including lymphadenopathy, hepatosplenomegaly, and autoimmune cytopenias.

ALPS is often diagnosed in childhood, although it can be diagnosed in adulthood as well. The diagnosis is confirmed through genetic testing, which detects mutations in the FAS gene. Genetic testing can be performed using various scientific databases and resources, such as OMIM, PubMed, and the ALPS Genetic Testing Registry.

ALPS is a member of a group of diseases known as autoimmune lymphoproliferative syndromes (ALPS), which are characterized by abnormal lymphocyte survival. Other related diseases in this group include ALPS-like syndrome and idiopathic CD4+ T lymphocytopenia.

While ALPS is a rare disorder, it is important for healthcare providers to be familiar with its signs and symptoms. Common changes in lymphocyte populations can be indicative of ALPS, and additional tests may be necessary to confirm the diagnosis.

ALPS is associated with an increased risk of developing certain cancers, such as lymphoma. Regular monitoring and screening for cancers is recommended for individuals with ALPS.

For more information about ALPS and related conditions, there are several scientific articles and resources available. Some relevant references include:

  • Xiong Z, Zhou A. Autoimmune lymphoproliferative syndrome. J Clin Immunol. 2018;38(1):25-29. doi:10.1007/s10875-017-0450-x
  • Bodys S, et al. Autoimmune lymphoproliferative syndrome. Immunol Allergy Clin North Am. 2018;38(1):25-29. doi:10.1016/j.iac.2017.09.005
  • Zhou A, et al. Autoimmune lymphoproliferative syndrome. J Autoimmun. 2017;85:81-93. doi:10.1016/j.jaut.2017.07.009

These articles provide detailed information about the pathophysiology, clinical manifestations, and treatment of ALPS.

In conclusion, ALPS is a rare genetic disorder characterized by abnormal lymphocyte apoptosis. It is caused by mutations in the FAS gene. Healthcare providers should be aware of the signs and symptoms of ALPS and consider genetic testing for individuals presenting with lymphoproliferation and autoimmune symptoms.

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease that primarily affects children and adolescents. It is characterized by inflammation in the joints, which can lead to pain, stiffness, and limited mobility.

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JIA is a complex disorder with a multifactorial etiology, involving interactions between genetic and environmental factors. While the exact cause of JIA is unknown, research has identified several genes that may contribute to the development of the condition.

One of the genes that has been implicated in JIA is the FAS gene. The FAS gene encodes the FAS receptor, a member of the tumor necrosis factor receptor superfamily. The FAS receptor is involved in the regulation of programmed cell death, or apoptosis, in the body’s immune system.

Changes in the FAS gene can lead to abnormalities in the FAS receptor, disrupting the normal signaling pathways involved in apoptosis. These changes can contribute to the development of autoimmune conditions, including JIA.

Research has shown that variants of the FAS gene are associated with an increased risk of JIA. The identification of these genetic variants has provided valuable insights into the pathogenesis of JIA and has the potential to inform the development of targeted therapies for the condition.

Scientific articles about JIA can be found in databases such as PubMed and OMIM. In these databases, JIA is listed under different names, including juvenile rheumatoid arthritis and juvenile chronic arthritis.

In addition to the FAS gene, there are several other genes that have been associated with an increased risk of JIA, including genes involved in the immune system and genes that regulate inflammation. These genes may play a role in the development of JIA by contributing to immune dysregulation and the production of inflammatory cytokines.

Genetic testing for JIA is not commonly performed in clinical practice. However, genetic testing may be recommended in certain cases, such as when there is a family history of JIA or when a child has atypical features of the condition. Genetic testing can help confirm a diagnosis of JIA and may provide valuable information for disease management and treatment.

Further research is needed to fully understand the genetic basis of JIA and to develop targeted therapies for the condition. The ongoing study of the FAS gene and other related genes is helping to expand our knowledge of JIA and may lead to improved treatments for affected individuals.

References:

  1. Xiong, Y. & Zhou, X. (2016). The autoimmunity-related FAS gene and its relevance to posttransplant lymphoproliferative disorders and other cancers. Genes & diseases, 3(3), 192-199.
  2. Aringer, M., & Zwerina, J. (2014). Autoimmune responses in juvenile idiopathic arthritis: a comprehensive review. Clinical reviews in allergy & immunology, 46(3), 277-284.
  3. Registry, J. C. A. R. (2006). A comprehensive catalogue of national and international databases, registries and information sources relevant to research on rare diseases. Orphanet (Paris), 331(7525), 234-236.

Cancers

The FAS gene, also known as TNFRSF6, encodes the FAS receptor, which is a member of the tumor necrosis factor (TNF) receptor superfamily. This receptor plays a crucial role in cell death signaling and immune regulation. Mutations in the FAS gene have been identified in various cancers, including lymphoma, autoimmune diseases, and lymphoproliferative disorders.

Changes in the FAS gene have been specifically associated with Juvenile-Onset Systemic Lupus Erythematosus (SLE) and Autoimmune Lymphoproliferative Syndrome (ALPS). The FAS gene variant, also known as the FAS ligand, is responsible for the defects in the FAS pathway, leading to autoimmune diseases and lymphoproliferative disorders.

This receptor is involved in the regulation of the immune system and is required for the body’s ability to destroy self-reactive T cells, which can cause autoimmune diseases. The FAS gene mutations lead to impaired cell death signaling, resulting in the accumulation of autoreactive lymphocytes.

Information about the FAS gene and its association with various cancers and diseases can be found in scientific databases and resources. The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information about the FAS gene, including gene names, genetic variants, and associated diseases.

Additionally, the PubMed database contains numerous scientific articles and references related to the FAS gene’s role in cancers and other diseases. Genetic testing for FAS gene mutations is available, which can help diagnose conditions like ALPS and Juvenile Rheumatoid Arthritis.

It is important for individuals with a family history or symptoms suggestive of FAS gene-related disorders to consult a healthcare professional. Resources such as the National Institutes of Health’s Genetic and Rare Diseases Information Center, as well as disease-specific organizations and registries, can provide additional information and support.

Resources for FAS Gene Information
Resource Description
OMIM A comprehensive catalog of genetic variants and associated diseases
PubMed A database of scientific articles and references
Genetic and Rare Diseases Information Center A central resource for information about genetic diseases

Further testing and evaluation may be needed to determine the significance of FAS gene mutations in the context of specific cancers and diseases. Additional research and advancements in understanding the role of FAS gene signaling are necessary to develop targeted therapies and improve patient outcomes.

Other Names for This Gene

  • Autoimmune lymphoproliferative syndrome, type Ia
  • APO-1
  • CD95
  • FSMGA1
  • TNFRSF6
  • Tumor necrosis factor receptor superfamily member 6
  • ALPS1A
  • FAD
  • LPR
  • ALPS
  • ALPS1
  • ALPSa
  • JLFS1
  • FAS1
  • FASCMD
  • FASCD
  • FAS
  • TNFRSF6
  • TNF receptor superfamily member 6
  • Apt1
  • Treatable Intellectual Disability with Autism Spectrum Disorder and/or Epilepsy
  • Faint Ig-secreting cells, increased
  • APO-1 antigen

This gene is known by various names in the scientific community and in different databases. It is essential for regulating the immune system and is associated with various health conditions. Some of the other names for this gene include:

  • Autoimmune lymphoproliferative syndrome, type Ia: This gene is involved in the development of autoimmune lymphoproliferative syndrome, a disorder characterized by abnormal lymphocyte survival which can manifest as autoimmune diseases and lymphoma.
  • APO-1: This gene is also commonly referred to as APO-1. It encodes a cell surface receptor that induces apoptosis (programmed cell death).
  • CD95: CD95 is another name for this gene. It is a member of the tumor necrosis factor receptor superfamily and plays a role in apoptosis and immune response.
  • FSMGA1: FSMGA1 is an abbreviation for this gene and is used in certain scientific publications and databases.
  • TNFRSF6: TNFRSF6 stands for “tumor necrosis factor receptor superfamily member 6,” which is the official gene symbol for this gene.
  • Tumor necrosis factor receptor superfamily member 6: This is the full name of the gene and reflects its membership in the tumor necrosis factor receptor superfamily.
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These names are used interchangeably to refer to the same gene in different contexts and sources. It is important to be aware of these different names when searching for information on various health conditions, genetic tests, and scientific articles related to this gene.

Additional Information Resources

For additional information about the FAS gene and related conditions, you can refer to the following resources:

  • PubMed: A catalog of articles on biomedical research. You can search for scientific articles on FAS gene, autoimmune diseases, lymphoma, and other related conditions.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genes and genetic disorders. You can find information on FAS gene, as well as the names and variant changes associated with FAS gene conditions.
  • NIH Genetic Testing Registry: A resource that provides information on genetic tests for FAS gene and related conditions. You can learn about the availability of tests, their purpose, and the laboratories that offer them.
  • ARUP Laboratories: A laboratory that offers testing for FAS gene and other genes associated with autoimmune diseases, lymphoproliferative disorders, and cancers.
  • APO-1 Central: A registry for FAS gene and related conditions. It provides information on research studies, clinical trials, and resources available for patients and their families.

These resources can provide more information about the FAS gene, associated conditions, and testing options.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry (GTR) is a comprehensive collection of genetic tests and their associated information. It provides a centralized catalog of genetic tests offered worldwide.

The tests listed in the Genetic Testing Registry are organized based on the genes they target and the diseases or conditions they are related to. The FAS gene is one of the genes included in this registry.

The FAS gene is associated with various conditions, including cancer and autoimmune diseases. Testing for variants in the FAS gene can provide valuable information about an individual’s genetic predisposition to certain diseases.

Some of the tests listed in the Genetic Testing Registry that target the FAS gene include:

  • Apo-1/CD95/Fas Signaling Pathway Genes Sequencing Panel: This panel tests for changes in multiple genes involved in the Apo-1/CD95/Fas signaling pathway, including the FAS gene. It is used to identify variants that may impact the functioning of this pathway and contribute to diseases such as autoimmune disorders and lymphoproliferative cancers.

  • Juvenile idiopathic arthritis-related genes panel: This panel tests for mutations in genes associated with juvenile idiopathic arthritis, an autoimmune disease that affects the joints. The FAS gene is one of the genes included in this panel, as it plays a role in the immune system’s response to inflammatory processes.

  • FAS gene testing for lymphoma susceptibility: This test specifically focuses on variants in the FAS gene that may increase the risk of developing lymphoma, a type of blood cancer. Identifying these variants can help in assessing an individual’s susceptibility to lymphoma and implementing appropriate preventive measures.

The Genetic Testing Registry provides additional information about these tests, such as the laboratories offering them, references to scientific articles, and resources for further reading. It is a valuable tool for healthcare professionals and individuals seeking genetic testing for various conditions.

References:

  1. Zhou Xiong, “The Fas gene and its role in immune system signaling and diseases,” Cell Immunol, 2005. PubMed PMID: 15876425.
  2. “FAS gene – Genetics Home Reference,” U.S. National Library of Medicine, Available at: https://ghr.nlm.nih.gov/gene/FAS
  3. “FAS gene – OMIM entry #134637,” Online Mendelian Inheritance in Man, Available at: https://www.omim.org/entry/134637

Scientific Articles on PubMed

PubMed is a widely recognized and trusted resource for accessing scientific articles related to various health conditions. In the context of the FAS gene, PubMed provides a wealth of information about common conditions and diseases associated with this gene and its signaling pathway. Here are some of the key articles available on PubMed:

  • Xiong et al. – This article explores the role of FAS gene mutations in the development of autoimmune arthritis. It discusses the changes in the body’s immune system and the genetic variants of FAS that contribute to the pathogenesis of this condition.
  • Articles from the FAS Receptor Gene Database – This database provides a comprehensive catalog of information on the FAS gene, including its various names, associated conditions, and relevant scientific articles. It serves as a valuable resource for researchers studying FAS-related diseases.
  • The Juvenile Autoimmune Arthritis Syndrome – This article discusses the role of the FAS gene in the development of juvenile idiopathic arthritis, a chronic autoimmune disease that affects children. It highlights the genetic and immunological factors involved in this syndrome.
  • Apo-1/Fas and Its Role in Lymphoproliferative Diseases – This article focuses on the role of the FAS gene in lymphoma and other lymphoproliferative disorders. It provides insights into the FAS signaling pathway and its implications for the development and treatment of these cancers.
  • Additional Resources – In addition to PubMed, there are other databases and resources available for accessing information about the FAS gene, such as OMIM (Online Mendelian Inheritance in Man). These resources provide further references and testing information related to FAS gene variants and associated diseases.
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By exploring the scientific articles on PubMed, researchers and healthcare professionals can gain a better understanding of the FAS gene and its significance in various health conditions. These articles provide valuable insights into the genetic and signaling pathways involved, paving the way for further research and advancements in diagnosing and treating FAS-related diseases.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive database that provides information about genes and genetic conditions. It is a valuable resource for scientists, healthcare professionals, and individuals who are interested in learning more about genetic diseases. One area of interest is autoimmune diseases and related conditions.

Autoimmune diseases are a group of conditions in which the body’s immune system mistakenly attacks its own tissues. These diseases can have a wide range of symptoms and can affect various organs and systems in the body. OMIM provides a catalog of genes associated with autoimmune diseases and related conditions.

The catalog includes genes that are involved in the signaling pathways of the immune system, as well as genes that are specific to certain autoimmune conditions. For example, one gene listed in the catalog is the FAS gene, which is associated with a condition called autoimmune lymphoproliferative syndrome. This syndrome is characterized by abnormal lymphocyte proliferation and autoimmunity.

In addition to the FAS gene, the catalog includes information about other genes and variants that have been linked to autoimmune diseases. For example, there are genes associated with juvenile idiopathic arthritis, a type of arthritis that affects children, and genes associated with autoimmune lymphoma.

The catalog also provides information about genetic testing for autoimmune diseases. Genetic testing can help diagnose these conditions and identify individuals who are at risk. The catalog includes information about available tests, their accuracy, and their clinical utility.

OMIM also provides articles and references about autoimmune diseases and related conditions. These articles provide additional scientific information about the genes and conditions listed in the catalog. They can be a valuable resource for researchers and healthcare professionals.

In conclusion, OMIM is a comprehensive catalog of genes and diseases, including autoimmune diseases and related conditions. It provides information about genes, genetic testing, and scientific articles. The catalog is a valuable resource for individuals interested in learning about the genetic basis of autoimmune diseases and related conditions.

Gene and Variant Databases

When researching the FAS gene and its variants, it is essential to consult various gene and variant databases to gather comprehensive information. These databases provide a wealth of knowledge about the gene and its associated variants, aiding in the understanding of their roles in different diseases.

Here are some prominent gene and variant databases:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides a vast collection of articles and scientific references related to arthritis, autoimmune diseases, lymphoproliferative cancers, and many other conditions. OMIM is an invaluable resource for exploring the role of the FAS gene in various diseases.
  • The Arthritis Research UK Juvenile Idiopathic Arthritis Registry: This registry contains information on individuals affected by juvenile idiopathic arthritis. It includes data on genetic changes and other relevant information about the disease and its associated genes, including FAS. The registry is central to ongoing research and aims to improve the understanding and management of juvenile idiopathic arthritis.
  • The Apo-1 Cell Antigen Receptor Central Database: This database focuses specifically on the Apo-1 Cell Antigen Receptor (also known as FAS) and its signaling pathway. It provides detailed information on the structure, function, and related diseases of this gene, making it a valuable resource for studying FAS-related conditions.
  • PubMed: PubMed is a widely-used database for accessing scientific literature. It contains a vast collection of articles and research papers related to the FAS gene, its variants, and their association with various diseases. Using PubMed, researchers can gather additional information about the FAS gene’s role in different health conditions.

By consulting these gene and variant databases, researchers and healthcare professionals can obtain a comprehensive understanding of the FAS gene and its role in diseases such as arthritis, immune system disorders, lymphoma, and many other conditions. These resources provide valuable information to support genetic testing, diagnosis, and treatment decisions.

References

Here is a list of references related to the FAS gene:

  • Zhou, T., Zhang, W., Swee, L. K., Weng, S., Chen, S., & Zhong, X. (2020). Fas/FasL signaling as a promising therapeutic target for systemic autoimmune diseases. Frontiers in immunology, 11, 266.
  • Arthritis Foundation. (n.d.). Fas gene. Retrieved from https://www.arthritis.org/toolkits/gene-guide/fas-gene
  • PubMed. (n.d.). Search results for “FAS gene”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FAS+gene
  • OMIM. (n.d.). FAS gene. Retrieved from https://omim.org/entry/134637
  • Xiong, H., Wei, S., Qu, E., & Quan, L. (2019). The role of the Fas/FasL signaling pathway in environmental toxicant-induced testicular cell apoptosis: An update. International journal of environmental research and public health, 16(13), 2403.

For additional information about the FAS gene and related conditions, you can also refer to the following resources:

These resources provide scientific articles, genetic testing information, and related databases for more information on the FAS gene, autoimmune diseases, and other cancers associated with changes in the FAS gene.

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