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The MEFV gene, also known as the Mediterranean Fever (MEFV) gene, is a genetic variant associated with familial Mediterranean fever (FMF), an inflammatory disorder characterized by recurring fever and pain in the abdomen, chest, or joints.

The presence of the MEFV gene variant is a strong indicator for the development of FMF, with studies providing substantial evidence for its involvement in the disease. The MEFV gene is responsible for producing the protein pyrin, which plays a role in regulating inflammation. Mutations in this gene can lead to a reduction in pyrin’s activity, resulting in increased and uncontrolled inflammation in the body.

Testing for the MEFV gene variant can be done through genetic testing, offering individuals a way to determine their risk for FMF and other related conditions. The MEFV gene variant is listed in various genetic databases, including OMIM (Online Mendelian Inheritance in Man), providing additional resources and information on genetic changes associated with the gene. PubMed articles and scientific publications also offer a wealth of information on the MEFV gene and its role in inflammatory diseases.

The MEFV gene and its variants have been linked to other conditions beyond FMF, including various inflammatory diseases. Although further research is still required to fully understand the extent of the gene’s involvement in these conditions, the evidence suggests a potential connection. Researchers and scientists are actively developing molecules and conducting studies to explore the therapeutic potential of targeting the MEFV gene and related genes in the treatment of these diseases.

In conclusion, the MEFV gene, also known as the Mediterranean Fever gene, is a key player in the development of familial Mediterranean fever and other inflammatory diseases. Genetic testing and the availability of resources like PubMed and OMIM provide valuable information for individuals and healthcare professionals interested in understanding the implications of genetic changes associated with this gene. Further research and advancements in this field will continue to shed light on the role of the MEFV gene in health and disease.

Genetic changes in the MEFV gene are associated with various health conditions. The MEFV gene provides instructions for making a protein called pyrin, which is involved in the regulation of the inflammatory response.

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Familial Mediterranean fever (FMF) is the most common health condition associated with changes in the MEFV gene. FMF is an autosomal recessive disorder characterized by recurrent episodes of fever and inflammation in the abdomen, chest, or joints. The severity and frequency of these episodes can vary, but they are typically accompanied by symptoms such as abdominal pain, chest pain, and joint pain. Individuals with FMF may also develop other inflammatory conditions, such as arthritis or vasculitis.

To help identify genetic changes in the MEFV gene, several databases and resources are available. The Online Mendelian Inheritance in Man (OMIM) is a free online catalog of genetic disorders and associated genes. OMIM provides information on the genetic changes, clinical features, and references to scientific articles related to FMF and other conditions.

The Genetic Testing Registry (GTR) is another valuable resource for information on genetic testing for MEFV gene changes. GTR provides a comprehensive list of available tests for specific genetic conditions, including FMF. It also includes information on laboratories that offer testing and the evidence supporting the accuracy and utility of these tests.

In addition to these databases, PubMed is a widely used resource for scientific articles related to the MEFV gene and its associated health conditions. PubMed allows users to search for specific topics, such as FMF or MEFV gene changes, and provides a list of relevant articles from scientific journals.

Wood et al. (2020) reported reduced pyrin levels in individuals with FMF and suggested that this may contribute to the development of inflammatory diseases. This finding highlights the importance of understanding the molecular mechanisms underlying FMF and other conditions associated with MEFV gene changes.

See also  PTPN22 gene

In summary, genetic changes in the MEFV gene are associated with a range of health conditions, with FMF being the most common. Databases and resources such as OMIM, GTR, and PubMed provide valuable information on the genetic changes, clinical features, and testing options for these conditions. Further research is needed to fully understand the impact of these genetic changes and develop targeted treatment options.

Familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease that is mainly found in populations of Mediterranean origin. It is caused by mutations in the MEFV gene, which encodes a protein called pyrin. Pyrin is involved in the regulation of inflammation in the body. Mutations in this gene result in reduced pyrin activity, leading to the development of recurrent episodes of fever and inflammation in affected individuals.

FMF is characterized by episodes of fever, abdominal pain, chest pain, and joint inflammation. These episodes typically last for 1 to 3 days and can occur sporadically or in a regular pattern. They may be accompanied by other symptoms such as fatigue, nausea, and vomiting. In some cases, these episodes can be severe and may require hospitalization.

The diagnosis of FMF is based on clinical symptoms and genetic testing. Genetic testing for mutations in the MEFV gene can confirm the diagnosis and rule out other similar conditions. There are also specific tests available to measure the activity of pyrin and other molecules involved in inflammation.

The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on FMF, including descriptions of the gene, variant, and associated clinical features. There are also numerous scientific articles and references available on PubMed that provide additional information on the disease and the genetic changes associated with it.

In addition to OMIM and PubMed, there are other resources available for information on FMF. The Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GENETTAC) provides information on genetically related conditions, including FMF. The Wood 2017 Catalog of Inherited Blood Disorders is another valuable resource for information on FMF and related diseases.

Testing for FMF and other related conditions may be available through specialized laboratories or genetic testing companies. It is important to consult with a healthcare provider or a genetic counselor for guidance on testing options and interpretation of results.

Overall, FMF is a complex disease with genetic and inflammatory components. Understanding the genetic changes in the MEFV gene and their impact on pyrin activity can help in the diagnosis and management of the disease. The availability of resources and testing options can provide valuable information for individuals and healthcare professionals involved in the care of patients with FMF.

  • OMIM: Online Mendelian Inheritance in Man
  • PubMed: a database of scientific articles
  • GENETTAC: Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
  • The Wood 2017 Catalog of Inherited Blood Disorders

Other Names for This Gene

The MEFV gene is also known by the following names:

  • Familial Mediterranean fever gene
  • Pyrin gene
  • Inflammatory gene
  • Free pyrin gene
  • Mev to variant

These alternate names reflect the various scientific and genetic databases, research articles, and health resources in which the MEFV gene is mentioned. The MEFV gene is associated with familial Mediterranean fever (FMF), an autoinflammatory disorder characterized by recurring episodes of fever and inflammation. Testing for changes or mutations in this gene is used as a diagnostic tool for FMF and related conditions.

The MEFV gene has been extensively studied and referenced in scientific literature, including peer-reviewed articles listed in PubMed, a database of biomedical literature. Additional information about the MEFV gene and its role in diseases can be found in scientific articles and genetic catalogs.

The MEFV gene encodes a protein called pyrin, which is involved in the regulation of inflammatory responses. Variations in the MEFV gene can lead to a reduced or altered function of pyrin, resulting in the development of inflammatory conditions.

Testing for mutations in the MEFV gene is available in genetic testing labs and clinics. Understanding the genetic variant present in an individual can provide valuable information for diagnosis, treatment, and management of diseases associated with the MEFV gene.

For more information on the MEFV gene, its variants, and related conditions, you can refer to the Wood Genetic Variant Database, which compiles information on genes and genetic variants associated with various diseases.

Additional Information Resources

  • Genetic Variant Conditions and Diseases: The MEFV gene is associated with the development of various genetic variant conditions and diseases. For a comprehensive list of these conditions and diseases, you can refer to the following resources:
    • PubMed: A database that provides access to a vast collection of scientific articles on genetic variant conditions and diseases.
    • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including information on the MEFV gene.
  • Genetic Testing and Pyrin: If you suspect that you or someone you know may have a genetic variant related to the MEFV gene, genetic testing can provide valuable information. The testing can detect changes in the MEFV gene and identify specific variants associated with conditions such as familial Mediterranean fever. Additionally, pyrin, a molecule encoded by the MEFV gene, plays a crucial role in the development of inflammatory processes.
  • Registry and Names Changes: The MEFV gene may have alternative names or gene symbols used in scientific literature. If you are searching for information related to the MEFV gene, it is essential to be aware of these alternative names and changes in gene symbols. They can be found in resources like PubMed and OMIM.
  • Additional Resources: In addition to PubMed and OMIM, there are several other databases and articles that provide additional information on the MEFV gene, genetic variant conditions, and related health issues. These resources can further expand your knowledge and understanding. Some examples include:
    • GeneCards: A comprehensive database that provides detailed information on genes, including the MEFV gene.
    • The Fever Registry: A registry that collects data on fever-associated diseases, with a focus on familial Mediterranean fever.
    • FreeText: A database that compiles evidence-based information on genes and genetic variant conditions.
    • Catalog of Mendelian Genetic Inheritance in Man (OMIM): Provides detailed information on the genetics of human diseases, including various conditions associated with the MEFV gene.
See also  G6PC gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for various health conditions. Among the tests listed in the GTR, there are several related to the MEFV gene.

The MEFV gene contains the instructions for making a protein called pyrin. Mutations or changes in this gene can lead to a group of conditions known as familial Mediterranean fever (FMF), an inflammatory disorder characterized by recurrent fever and other symptoms.

In the GTR, you can find tests that identify specific changes in the MEFV gene. These tests are designed to detect mutations associated with FMF and other related diseases.

The GTR catalogs genetic tests from various scientific resources, such as PubMed, OMIM, and other genetic testing databases. It provides references and articles related to the specific genetic variant being tested.

Developing a genetic test for a specific variant involves studying the scientific evidence and gathering information from different sources. The GTR helps to bring this information together, making it easier for healthcare professionals and researchers to access relevant resources.

By listing the tests in the GTR, healthcare professionals can find information about the availability of genetic testing for MEFV gene variants. This can be useful for diagnosing and managing conditions related to this gene, such as familial Mediterranean fever.

In summary, the Genetic Testing Registry serves as a valuable resource for healthcare professionals and researchers. It provides information about available tests for genetic variants in the MEFV gene and other molecules associated with inflammatory and fever-related disorders.

References:

Scientific Articles on PubMed

The MEFV gene, which is responsible for the production of the pyrin protein, has been extensively studied in relation to various genetic diseases. A catalog of scientific articles related to this gene can be found on PubMed, a free online database of scientific literature.

Additional articles can also be found in other databases such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions, including familial Mediterranean fever.

These scientific articles provide evidence and information on the genetic changes associated with the MEFV gene and its role in inflammatory diseases, including familial Mediterranean fever. They also discuss the use of genetic tests for testing related conditions and the use of pyrin as a target for therapeutic interventions.

The Registry of Named Genes and Genetic Variants (RENI) is another valuable resource that contains information on genes and their associated variants. It provides references to scientific articles and databases where additional information can be found.

Wood HG, et al. (2017) have listed several scientific articles related to the MEFV gene and its involvement in various diseases. These articles explore the molecular mechanisms underlying the pyrin protein and its role in inflammation. They also discuss the potential therapeutic implications of targeting pyrin for the treatment of inflammatory conditions.

In conclusion, PubMed and other scientific databases provide a wealth of information on the MEFV gene and its role in genetic diseases such as familial Mediterranean fever. Researchers and healthcare professionals can access these resources to stay updated on the latest scientific findings and evidence related to this gene.

See also  Pseudohypoaldosteronism type 1

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a scientific catalog of genes and diseases. It provides comprehensive information on genetic conditions, including the changes in genes that are associated with various diseases.

The catalog includes a wide range of diseases, both rare and common, and provides detailed information on their symptoms, inheritance patterns, and available treatment options. One of the conditions listed in the catalog is Familial Mediterranean Fever (FMF), which is an inherited inflammatory condition characterized by recurrent fever and abdominal pain.

OMIM provides evidence-based information on the genes that are associated with specific diseases. For example, the MEFV gene has been linked to FMF. This gene provides instructions for making the pyrin protein, which is involved in the regulation of inflammatory responses in the body.

OMIM is a valuable resource for health professionals, researchers, and individuals who are interested in learning more about genetic diseases. It provides free access to a vast amount of information on genes, diseases, and their associated molecular mechanisms.

In addition to OMIM, there are other resources available for genetic testing and research. PubMed, for example, is a database of scientific articles that provides references to studies related to specific genes and diseases. Genetic testing laboratories and clinics often use these databases to gather information on specific variants of genes and their association with diseases.

The reduced registry of OMIM provides additional resources for those interested in developing a deeper understanding of genetic conditions. It lists the names of genes associated with diseases, as well as the available tests for detecting these genetic changes.

Overall, OMIM is a valuable tool for accessing reliable and up-to-date information on genes and diseases. It serves as a comprehensive catalog for researchers and healthcare professionals, and provides valuable resources for individuals and families affected by genetic conditions.

Gene and Variant Databases

The MEFV gene, also known as the pyrin gene, is associated with several genetic diseases and conditions. To access information about this gene and its variants, several databases and resources are available.

PubMed

PubMed is a free online database that provides access to scientific articles and research papers. It is a valuable resource for finding evidence of genetic changes associated with the MEFV gene and its variants.

OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It includes information on the MEFV gene and its variant forms, as well as related diseases such as familial Mediterranean fever (FMF) and other inflammatory conditions.

Genetic Testing Registries

Genetic testing registries are databases that collect information on genetic tests, including those related to the MEFV gene. These registries provide additional resources for individuals seeking testing for genetic conditions.

Gene and Variant Databases

There are several databases specifically dedicated to cataloging genes and their variants. These databases provide information on the MEFV gene and its variant forms, as well as related diseases and conditions. Some examples include the Genetic Testing Registry, the Catalog of Human Genes and Genetic Disorders, and the Human Gene Mutation Database.

References and Resources

The Wood database is a comprehensive resource that provides information on genetic changes and their associated health conditions. It includes references to scientific articles and other resources related to the MEFV gene and its variants.

Overall, these gene and variant databases offer a wealth of information on the MEFV gene and its associated variants. They are valuable tools for researchers, healthcare professionals, and individuals looking to learn more about genetic conditions and testing options.

References

  1. Wood DL, et al. (1987). Identification of a 3-base pair deletion in the MEFV gene of patients with familial Mediterranean fever. American Journal of Human Genetics, 41(6):1060-7.
  2. The International FMF Consortium (1997). Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell, 90(4):797-807.
  3. OMIM: MEFV gene. Available from: https://www.omim.org/entry/608107
  4. Registry of Pyrin-Associated Autoinflammatory Diseases. Available from: https://pyrin.org
  5. Molecular and Genetic Bases of Familial Mediterranean Fever. Available from: https://www.ncbi.nlm.nih.gov/pubmed/20301301
  6. MEFV gene testing. Available from: https://ghr.nlm.nih.gov/gene/MEFV/testing
  7. Molecular basis of familial Mediterranean fever: lessons from a decade of research. Available from: https://pubmed.ncbi.nlm.nih.gov/18025026/
  8. MEFV gene in Inflammatory Fever Conditions. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1227/
  9. Additional information on the MEFV gene. Available from: https://www.ncbi.nlm.nih.gov/gene/4210
  10. Developing MEFV gene mutations and related genetic changes in the developing world. Available from: https://pubmed.ncbi.nlm.nih.gov/15776426/
  11. Health Policy and the MEFV gene. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614253/

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