The TNFRSF1A gene, also known as Tumor Necrosis Factor Receptor Superfamily Member 1A, is a gene that is associated with multiple conditions and diseases. It plays a role in various health conditions and its mutations or changes can lead to different genetic disorders.

The TNFRSF1A gene encodes the TNF receptor-associated factor 1 protein (TRAPS), which is a receptor for tumor necrosis factor-alpha (TNF-α). This protein is involved in the immune system and can trigger the production of inflammatory factors. Mutations in this gene can lead to periodic fever syndrome and other related conditions.

There are various resources available for information on the TNFRSF1A gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the gene and its related diseases. The OMIM database includes information on genetic variants, changes in the gene, and additional references to scientific articles.

Genetic testing can be done to analyze the TNFRSF1A gene for mutations and changes. These tests can help in diagnosing genetic conditions related to this gene and provide important information for treatment and management. There are also other databases and resources available for genetic testing and information on genetic diseases.

Genetic changes in the TNFRSF1A gene can lead to various health conditions. Here are some of the health conditions related to genetic changes in the TNFRSF1A gene:

  • Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): TRAPS is a rare autosomal dominant syndrome caused by genetic changes within the TNFRSF1A gene. It is characterized by recurrent episodes of fever, rash, muscle pain, and abdominal pain. Additional symptoms may include joint inflammation and eye problems.
  • Other Receptor-Associated Periodic Syndrome (ORAPS): ORAPS is a term used to describe periodic fever syndromes related to genetic changes in other receptor-associated genes. TNFRSF1A is one of the genes associated with ORAPS.
  • Multiple Sclerosis: Genetic changes in the TNFRSF1A gene have been found to be associated with an increased susceptibility to multiple sclerosis (MS). MS is a chronic inflammatory disease of the central nervous system.
  • Other Conditions: Genetic changes in the TNFRSF1A gene may also be related to other health conditions, although their specific role is unclear at this time. Further research is needed to fully understand the implications of these genetic changes.

For more information on the health conditions related to genetic changes in the TNFRSF1A gene, you can refer to the following resources:

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  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive, authoritative information on genetic disorders and related genes. It has a database of genes and genetic disorders.
  • NCBI Gene: NCBI Gene is a database that provides information on genes and their relationships to diseases. It includes sequence data, homology information, and references to scientific articles.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and related disciplines. It can be helpful to search for articles related to genetic changes in the TNFRSF1A gene and their association with specific health conditions.
  • ClinVar: ClinVar is a freely accessible database of medically relevant genetic variations and their relationships to diseases. It provides information on genetic variants, their clinical significance, and available testing options.
  • Genetic Testing Registry (GTR): GTR is a central repository for genetic test information. It provides a comprehensive listing of genetic tests, their purpose, methodology, and clinical validity, including tests for genetic changes in the TNFRSF1A gene.

Tumor necrosis factor receptor-associated periodic syndrome

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a genetic condition that is caused by changes in the TNFRSF1A gene. The TNFRSF1A gene encodes a protein that is involved in the regulation of the tumor necrosis factor (TNF) signaling pathway.

TRAPS is characterized by recurrent episodes of inflammation and can affect multiple organs and tissues in the body. The symptoms of TRAPS can vary widely, but often include fever, abdominal pain, joint pain, and skin rash. These episodes can be triggered by various factors, such as stress, infections, or physical exertion.

Genetic testing is available to confirm a diagnosis of TRAPS. This testing can detect changes in the TNFRSF1A gene that are associated with the condition. Additional tests may be needed to rule out other genetic conditions with similar symptoms.

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There are resources available to provide more information on TRAPS and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides information on the TNFRSF1A gene and its role in TRAPS. Other databases, such as PubMed and the Genetic Testing Registry, also have articles and references related to TRAPS.

Currently, treatment for TRAPS is focused on managing symptoms and preventing complications. This may involve the use of anti-inflammatory medications or other therapies to reduce inflammation and control pain. The long-term outlook for individuals with TRAPS is unclear and can vary depending on the specific genetic variant and other factors.

In summary, TRAPS is a genetic condition caused by changes in the TNFRSF1A gene. It is characterized by recurrent episodes of inflammation and can affect multiple organs and tissues in the body. Genetic testing and additional tests may be needed to diagnose TRAPS, and treatment is focused on managing symptoms and preventing complications.

Multiple sclerosis

Multiple sclerosis (MS) is a chronic neurological condition that affects the central nervous system (CNS), including the brain and spinal cord. It is characterized by the destruction of the protective covering of nerve fibers (myelin) in the CNS, resulting in communication problems between the brain and the rest of the body.

Genetic factors play a role in the development of multiple sclerosis, and the TNFRSF1A gene is one of the genes that have been associated with a predisposition to this condition. This gene provides instructions for making a protein called tumor necrosis factor receptor 1 (TNFR1), which is involved in the immune system and inflammation processes.

Changes (variants) in the TNFRSF1A gene have been found in a small number of people with multiple sclerosis, but the exact role of these changes in the development of the disease remains unclear. Additional factors, such as environmental triggers and other genetic changes, are also believed to contribute to the development of multiple sclerosis.

Testing for changes in the TNFRSF1A gene can be done to provide genetic information that may assist in the diagnosis or subsequent management of the disease. However, it is important to note that genetic testing for multiple sclerosis is not currently considered a standard diagnostic tool. The diagnosis of multiple sclerosis is typically based on a combination of clinical symptoms, neurological exams, imaging tests, and laboratory tests.

References for this information and other resources on multiple sclerosis and genetic testing can be found in scientific databases such as PubMed and OMIM. These databases catalog articles and research studies related to genetic changes, receptor-associated proteins, and other factors associated with multiple sclerosis and its related conditions.

The International Multiple Sclerosis Genetics Consortium (IMSGC) and other research groups are also actively studying the genetic basis of multiple sclerosis and maintaining a registry of genetic variants and their association with the disease. This information can help researchers better understand the causes and mechanisms of multiple sclerosis and develop new strategies for diagnosis and treatment.

In conclusion, while the TNFRSF1A gene and its genetic changes may play a role in the development of multiple sclerosis, the exact contribution and significance of these changes remain unclear. Multiple sclerosis is a complex condition with a multifactorial etiology, and further research is needed to fully understand the genetic and environmental factors that contribute to its development.

Other Names for This Gene

  • Omim: TNFRSF1A gene
  • References: TNF receptor superfamily member 1A; TNF receptor type 1-associated periodic syndrome; TNFR1 protein; TNFRSF1A; TNFRSF1A-associated periodic syndrome; TNFRSF1A gene; TNF-R1; TNFAR; CD120a antigen; tumor necrosis factor receptor 1; tumor necrosis factor receptor superfamily member 1A
  • Factor: TNFRSF1A
  • In diseases: TNF receptor-associated periodic syndrome, TNFRSF1A-related information, TNFRSF1A additional role, TNFRSF1A receptor-associated changes, TNFRSF1A receptor-associated genetic syndrome
  • Pubmed: TNFRSF1A genes
  • Genetic syndrome articles: TNFRSF1A-associated periodic syndrome
  • Names: TNFRSF1A-related information, TNFRSF1A receptor-associated changes
  • Resources: TNFRSF1A gene, TNFRSF1A receptors, TNFRSF1A genetic factors, TNFRSF1A scientific catalog, TNFRSF1A genetic changes
  • Tests listed: TNFRSF1A traps, TNFRSF1A receptor trigger, TNFRSF1A causes, TNFRSF1A changes
  • Outside information: TNFRSF1A receptor variant, TNFRSF1A receptor changes
  • Within cysteines: TNFRSF1A proteins
  • Health conditions: TNFRSF1A-associated periodic syndrome, multiple sclerosis
  • Tests for this gene: TNFRSF1A gene testing
  • Databases: TNFRSF1A genetic syndrome database, TNFRSF1A scientific articles
  • Unclear: TNFRSF1A receptor information, TNFRSF1A receptor-associated genetic syndrome
  • Periodic syndrome: TNFRSF1A-associated periodic syndrome
  • TNFRSF1A provides: TNFRSF1A genetic information, TNFRSF1A receptor-associated genetic factors
  • Tumor necrosis factor receptor: TNFRSF1A receptor
  • Registry and testing for this gene: TNFRSF1A gene registry, TNFRSF1A gene testing
  • From: TNFRSF1A gene, TNFRSF1A-related information

Additional Information Resources

The TNFRSF1A gene is associated with various disorders and conditions. Here are some additional resources that provide relevant information about this gene:

Resource Description
OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and conditions. The TNFRSF1A gene is listed in OMIM, and you can find detailed information about its related disorders and genetic testing options.

PubMed

PubMed is a database of scientific articles and research papers. Searching for “TNFRSF1A gene” on PubMed will give you access to scientific publications that discuss the role of this gene in various diseases and conditions.

Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central repository of genetic tests. GTR provides information about available genetic tests for the TNFRSF1A gene and related disorders. You can find details about the testing methods, laboratories, and other relevant information.

Human Gene Mutation Database

The Human Gene Mutation Database (HGMD) catalogs genetic changes associated with various diseases and conditions. It provides information on the TNFRSF1A gene, including known genetic variants and their associated phenotypes.

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These resources can help you gain a deeper understanding of the TNFRSF1A gene, its role in diseases and conditions, and the available genetic testing options. It is important to consult authoritative sources for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The TNFRSF1A gene, also known as the tumor necrosis factor receptor superfamily member 1A gene, plays a crucial role in the immune system and is associated with various health conditions. Mutations in this gene can cause a genetic syndrome called TNFRSF1A-associated periodic syndrome (TRAPS), which is characterized by recurrent episodes of fever, abdominal pain, rash, and other symptoms.

In order to identify mutations in the TNFRSF1A gene and diagnose TRAPS, several genetic tests are available. These tests can be used to detect changes in the TNFRSF1A gene that may be responsible for the development of TRAPS or other related diseases.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for TNFRSF1A and other genes. It lists the names of the tests, the conditions they can help diagnose, and the resources available for further information. The GTR is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic testing.

Some of the genetic tests listed in the GTR for TNFRSF1A include:

  • Variant analysis: This test analyzes specific changes, or variants, in the TNFRSF1A gene that may be associated with TRAPS or other diseases.
  • Protein analysis: This test examines the proteins produced by the TNFRSF1A gene to determine if there are any abnormalities or changes.
  • Receptor-associated factor analysis: This test looks for changes in the proteins that are associated with the TNFRSF1A receptor, which plays a role in the immune response.
  • Multiple gene panel testing: This test assesses multiple genes, including TNFRSF1A, to identify potential causes of TRAPS and related conditions.

Additional information on these tests, including their clinical validity and utility, can be found in scientific databases such as OMIM, PubMed, and others. The GTR provides links to these resources for further exploration and understanding of the genetic tests associated with TNFRSF1A.

It is important to note that the specific genetic tests and their availability may vary depending on the region and healthcare provider. Consulting with a healthcare professional is recommended for accurate and up-to-date information on genetic testing for TNFRSF1A and other related genes.

Scientific Articles on PubMed

In the context of the TNFRSF1A gene, there have been numerous scientific articles published on PubMed related to various aspects of this gene and its associated conditions. Here are some key points and resources:

  • Many studies have focused on the changes and mutations in the TNFRSF1A gene that can lead to the development of TNFRSF1A-associated periodic syndrome (TRAPS) and other related conditions.
  • Proteins encoded by the TNFRSF1A gene, such as tumor necrosis factor receptor type 1 (TNFR1), play a crucial role in regulating immune responses and inflammation.
  • Testing for genetic changes in the TNFRSF1A gene can be informative for diagnosing TRAPS and other receptor-associated genetic diseases.
  • Resources, such as the Online Mendelian Inheritance in Man (OMIM) and genetic databases, provide valuable information on the TNFRSF1A gene and its related disorders.
  • Scientific articles on PubMed have explored the role of TNFRSF1A and other receptor-associated genes in various diseases and conditions.
  • The exact mechanisms and triggers of TRAPS and other TNFRSF1A-associated conditions are still unclear, and ongoing research aims to unravel this.
  • Changes in cysteines within the TNFRSF1A receptor can lead to abnormal signaling and contribute to the development of TNFRSF1A-associated disorders.
  • The TNFRSF1A gene variant and its associated changes have been extensively cataloged in genetic databases and referenced in scientific articles.

Overall, the scientific literature on PubMed provides a wealth of information on the TNFRSF1A gene, its associated conditions, and the role of related genes in various diseases. Further research and understanding of this gene and its effects on health will contribute to improved diagnostics, treatments, and management of TNFRSF1A-related disorders.

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Catalog of Genes and Diseases from OMIM

The TNFRSF1A gene encodes the tumor necrosis factor receptor-associated factor protein, which is a receptor-associated factor and plays an important role in the immune response. Genetic changes in this gene can trigger various diseases and conditions.

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic conditions and the genes associated with them. OMIM catalogs genes and diseases, and it is a valuable resource for researchers and healthcare professionals.

OMIM provides detailed information on the TNFRSF1A gene, including its function, genetic changes, and associated diseases. The gene is also known by other names, such as tumor necrosis factor receptor superfamily member 1A.

Genetic changes in the TNFRSF1A gene have been identified in diseases such as periodic fever syndrome, multiple sclerosis, and tumor necrosis factor receptor-associated periodic syndrome. These genetic changes can cause abnormalities in the protein encoded by the gene, leading to various health conditions.

The OMIM catalog provides additional resources and references related to the TNFRSF1A gene and its associated diseases. It includes scientific articles, tests, and research studies that shed light on the role of this gene in disease development and progression.

Research on the TNFRSF1A gene is ongoing, and new scientific findings are regularly added to the OMIM database. This ensures that healthcare professionals and researchers have access to the latest information on genetic causes of diseases and conditions.

In conclusion, the TNFRSF1A gene is listed in the OMIM catalog, and it is associated with various diseases and conditions. OMIM provides a comprehensive overview of the gene’s function, genetic changes, and associated diseases, making it a valuable resource for those involved in genetic testing and research.

Gene and Variant Databases

The TNFRSF1A gene is associated with various genetic conditions and diseases. Gene and variant databases provide valuable resources for researchers, clinicians, and individuals interested in learning more about the role of this gene in health and disease.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It provides information on the TNFRSF1A gene and related disorders, such as tumor necrosis factor receptor-associated periodic syndrome (TRAPS), periodic fever syndrome, and others.

PubMed is a scientific database that contains articles and references on a wide range of topics, including genetics and the TNFRSF1A gene. It can be a valuable resource for finding additional information on the gene and its role in various diseases.

GeneTests is a genetic testing registry that provides information on genetic tests and laboratories offering testing for the TNFRSF1A gene. It lists the specific changes or variants in the gene that are associated with different diseases.

Other databases may also include information on the TNFRSF1A gene and its variants. These databases can provide additional resources and references for further exploration.

The genetic changes or variants in the TNFRSF1A gene can cause receptor-associated periodic fever syndromes and other related diseases. The exact causes and triggers of these conditions are still unclear, but the TNFRSF1A gene is known to play a key role in the regulation of inflammatory response and immune system function.

The TNFRSF1A gene codes for the tumor necrosis factor receptor-associated factor (TRAF) protein, which is involved in signaling pathways that control inflammation and apoptosis. Changes in the gene can lead to abnormal function of the TRAF protein and dysregulation of these signaling pathways.

By understanding the genetic changes and their effects on the TNFRSF1A gene and related proteins, researchers and clinicians can develop better diagnostic tests, therapies, and interventions for individuals affected by these conditions.

In summary, gene and variant databases such as OMIM, PubMed, and GeneTests provide valuable information on the TNFRSF1A gene and its role in various genetic conditions and diseases. These resources can help researchers, clinicians, and individuals interested in learning more about the gene and its impact on health and disease.

References