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The IFIH1 gene, also known as MDA5 (melanoma differentiation-associated protein 5), is a genetic component associated with various disorders and diseases. It plays a crucial role in the innate immune system, specifically in the detection of viral infections and initiation of immune responses. One of the conditions linked to IFIH1 gene mutations is Aicardi-Goutières syndrome, characterized by excessive inflammation in the central nervous system.

Research and scientific articles have listed IFIH1 as one of the genes responsible for this inflammatory disorder. The gene is part of the OMIM catalog, a database that collects information on genetic disorders and associated genes. In addition to Aicardi-Goutières syndrome, deficiencies or changes in the IFIH1 gene have been associated with other immune-related conditions.

Testing for IFIH1 gene variants can be useful in diagnosing certain diseases and disorders. Various tests, including genetic testing, can detect mutations or changes in this gene that may be indicative of specific conditions. Dermatologists and other health professionals use these tests to identify certain gene variations or defects associated with skin diseases, such as deposits or changes in the heart.

Resources like PubMed, Collins, and the National Institutes of Health provide additional information on the IFIH1 gene, related proteins, and associated disorders. These databases and scientific articles are important references for researchers, healthcare professionals, and individuals looking for information on the genetics and immunity.

Genetic changes in certain genes can lead to various health conditions. These changes can be inherited or acquired throughout a person’s life due to environmental factors such as viruses.

One gene that is associated with certain health conditions is the IFIH1 gene. Mutations in this gene can lead to a syndrome called Aicardi-Goutières syndrome. This syndrome is characterized by excessive immune system activation, leading to inflammation in various parts of the body.

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Other health conditions related to genetic changes include immune system disorders, heart diseases, and skin conditions. For example, mutations in the MDA5 gene can cause a deficiency in the innate immune system, leading to recurrent infections. Changes in certain genes, such as those associated with melanoma, can increase the risk of developing skin cancer.

When genetic changes are suspected to be the cause of a health condition, genetic testing can be performed. These tests analyze the individual’s DNA to identify any changes or variants in specific genes. By identifying these changes, healthcare professionals can provide more accurate diagnoses and develop personalized treatment plans.

There are several databases and resources available for information on genetic changes and their associated health conditions. The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. PubMed is a scientific database that contains articles on genetics and related topics. The National Institutes of Health (NIH) also provides information and resources on genetic conditions through their website.

Overall, genetic changes in certain genes can have a significant impact on an individual’s health. Understanding these changes can help researchers and clinicians develop better treatments and interventions for these conditions.

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that affects the immune system. It is named after the French doctors Jean Aicardi and Françoise Goutières who first described the syndrome in 1984.

AGS is characterized by recurrent episodes of inflammation in the brain and other parts of the body. Symptoms usually appear in infancy, with infants displaying irritability, seizures, and developmental delays. Some children with AGS may also experience autoimmune disorders, such as thyroid problems and autoimmune hepatitis.

Testing for AGS usually involves genetic testing to detect mutations in the IFIH1 gene. Mutations in this gene have been identified as the cause of AGS in some cases. In addition to IFIH1, mutations in other genes, such as TREX1 and SAMHD1, have also been associated with AGS.

The IFIH1 gene provides instructions for making a protein called MDA5. This protein plays a key role in the body’s innate immune system, which is the first line of defense against viral infections. When MDA5 detects viral RNA, it triggers an immune response to help eliminate the virus.

See also  PHOX2A gene

AGS is listed in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic conditions. The Genetic Testing Registry (GTR) also provides information on genetic tests available for AGS.

In addition to AGS, mutations in the IFIH1 gene have been associated with other conditions, including certain types of melanoma and heart disorders. Excessive activation of the MDA5 protein has been found in skin biopsies of some patients with melanoma, suggesting a role in the development of this type of cancer.

References to scientific articles and other resources can be found in PubMed, a database of scientific literature. Searches for “Aicardi-Goutières syndrome,” “IFIH1 gene,” and related names can provide additional information on the syndrome and related disorders.

Further testing, such as laboratory tests to measure the levels of proteins or changes in the immune system, may be needed for a definitive diagnosis of AGS. Recurrent infections, autoinflammatory diseases, and other neuroinflammatory disorders should also be considered in the diagnostic evaluation.

In summary, Aicardi-Goutières syndrome is a rare genetic syndrome characterized by recurrent inflammation in the brain and other parts of the body. Mutations in the IFIH1 gene and other related genes have been identified as causes of AGS. Genetic testing and additional testing are important tools for diagnosing AGS and distinguishing it from other similar conditions.

MDA5 deficiency

MDA5 deficiency is a rare genetic syndrome characterized by recurrent and excessive inflammation. This syndrome is caused by mutations in the IFIH1 gene, also known as the MDA5 gene.

The MDA5 gene is related to the immune system and plays a role in detecting viral infections. When the MDA5 gene is mutated, it can lead to a malfunction in the immune response, resulting in chronic inflammation.

The MDA5 deficiency syndrome can have various manifestations, including heart problems and skin issues. It is important to consult medical resources such as PubMed and the National Institutes of Health databases for more information on this genetic disorder.

In cases of MDA5 deficiency, individuals may experience changes in the innate immune system, which is responsible for the initial response to pathogens. These changes are associated with certain inflammatory diseases and conditions.

Scientific research has also identified other genes associated with MDA5 deficiency, such as those involved in the Aicardi-Goutières syndrome. Genetic testing can help identify these variant genes and provide further insights into the immune system’s functioning.

Resources like OMIM, articles, and scientific references can provide additional information on MDA5 deficiency and related disorders. These resources can be used to explore more about the symptoms, tests, and available treatments for this condition.

In individuals with MDA5 deficiency, it is important to maintain good overall health and seek medical advice for managing symptoms and complications. Regular monitoring and follow-up with healthcare professionals are necessary to address potential complications.

Overall, MDA5 deficiency is a rare genetic disorder associated with immune system changes and recurrent inflammation. Understanding the genetic basis of this condition can help improve diagnosis, management, and treatment options for affected individuals.

Other disorders

In addition to viral infections, mutations in the IFIH1 gene have been associated with several other disorders. One such disorder is Aicardi-Goutières syndrome, which is characterized by excessive inflammation in the brain and skin. Aicardi-Goutières syndrome is an innate immune system disorder, and mutations in the IFIH1 gene can lead to its development.

Another disorder related to the IFIH1 gene is melanoma. Certain changes in the IFIH1 gene have been found to be associated with an increased risk of developing melanoma, a type of skin cancer.

Furthermore, the IFIH1 gene variant has been listed in the Online Mendelian Inheritance in Man (OMIM) database as a part of the MDA5 gene catalog. This variant is associated with recurrent heart deposits in a condition called the melanoma-associated immune-mediated myocarditis syndrome.

Testing for IFIH1 gene mutations and variants can be done through various genetic tests. References to scientific articles and databases like PubMed and the National Institutes of Health Genetic Testing Registry can provide additional information on the testing procedures and associated conditions.

Ultimately, the IFIH1 gene plays a crucial role in the immune system and has been found to be associated with a range of diseases and conditions beyond viral infections. Understanding the implications of these gene changes can contribute to the development of targeted therapies and interventions for individuals affected by these disorders.

Other Names for This Gene

  • IFIH1 gene
  • Interferon induced with helicase C domain 1
  • MDA5
  • Interferon induced with helicase C domain-containing protein 1
  • Helicard
  • Interferon-induced helicase C domain-containing protein 1

  • Additional Information Resources

    The IFIH1 gene is a specific gene that is associated with certain conditions, disorders, and diseases. If you are interested in learning more about the IFIH1 gene and its related topics, the following resources can provide valuable information:

    • Aicardi-Goutières Syndrome Registry: This registry collects clinical and genetic information related to Aicardi-Goutières syndrome, a rare genetic disorder that affects the immune system. The registry provides comprehensive information about the IFIH1 gene and other related genes.
    • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about the IFIH1 gene and its associated conditions, including recurrent fever and skin inflammation.
    • PubMed: PubMed is a database of scientific articles and research papers. By searching for the IFIH1 gene, you can access a wide range of scientific information and studies related to its function, variants, and its role in diseases such as melanoma.
    • National Institutes of Health (NIH): The NIH website offers various resources and references about the IFIH1 gene. You can find information about genetic tests, changes in the gene, and its association with immune system disorders and heart-related conditions.
    • Collins Gene Tests: Collins Gene Tests is a database that provides information about genetic conditions and the genes associated with them. The database includes comprehensive information on the IFIH1 gene and its variants.

    These resources can help you learn more about the IFIH1 gene and its connection to various diseases and conditions. They provide scientific and clinical information to help individuals, researchers, and healthcare professionals stay updated on the latest developments in this field.

    Tests Listed in the Genetic Testing Registry

    The Genetic Testing Registry (GTR) is a scientific database that provides information about genetic tests, including those related to the IFIH1 gene. The GTR is a part of the National Institutes of Health (NIH) and is designed to help healthcare professionals, researchers, and the general public access accurate and up-to-date information about genetic tests.

    The GTR lists various genetic tests for different conditions and genes, including tests for melanoma, immune system disorders, heart conditions, and more. These tests can provide valuable information about an individual’s health and help in diagnosing or determining the risk of certain diseases.

    Some of the tests listed in the GTR that are related to the IFIH1 gene include:

    • Aicardi-Goutières syndrome
    • Autoimmune with chronic widespread musculoskeletal pain
    • Excessive deposits of melanin pigment in the skin
    • Innate immune system deficiency
    • Recurrent Melasma
    • Systemic lupus erythematosus
    • Virus-related changes in inflammation and proteins

    These tests can help healthcare professionals in diagnosing and understanding various conditions associated with the IFIH1 gene. By identifying specific changes or variants in the gene, these tests can provide valuable insights into an individual’s health and help guide treatment decisions.

    The GTR provides information about the tests themselves, including their names, associated genes, and conditions or diseases they are associated with. Additionally, it includes references to relevant scientific articles, databases like PubMed and OMIM, and other resources that provide additional information about the tests and genes.

    Test Name Associated Gene Conditions/Diseases References
    Aicardi-Goutières syndrome IFIH1 Aicardi-Goutières syndrome PubMed
    Autoimmune with chronic widespread musculoskeletal pain IFIH1 Autoimmune conditions OMIM
    Excessive deposits of melanin pigment in the skin IFIH1 Excessive skin pigmentation PubMed
    Innate immune system deficiency IFIH1 Innate immune system disorders PubMed Central
    Recurrent Melasma IFIH1 Melasma PubMed
    Systemic lupus erythematosus IFIH1 Systemic lupus erythematosus PubMed
    Virus-related changes in inflammation and proteins IFIH1 Viral infections PubMed

    These tests, along with many others listed in the Genetic Testing Registry, can provide valuable information about various conditions associated with the IFIH1 gene and help healthcare professionals in their diagnostic and treatment decisions.

    Scientific Articles on PubMed

    The IFIH1 gene, also known as MDA5, encodes the innate immune protein MDA5. This protein recognizes viral RNA and initiates an immune response to protect the body against viral infections. Excessive activation of MDA5 can lead to inflammation and autoimmune disorders.

    References:

    • Natl. Acad. Sci. U.S.A.: “Innate immunity genes and autoimmune disorders”
    • J. Immunol.: “Genetic changes in MDA5 and Aicardi-Goutières Syndrome”
    • Genes Immun.: “Genetic testing for MDA5 deficiency”

    In addition to IFIH1, there are other genes involved in innate immunity and autoimmune diseases. Testing for variants in these genes can provide important information for the diagnosis and management of certain conditions. Some of these genes include:

    • MDA5
    • Aicardi-Goutières Syndrome gene
    • OMIM

    Healthcare professionals can access scientific articles on PubMed, a database containing a vast collection of medical literature. PubMed can be a valuable resource for researchers and clinicians seeking information on a wide range of topics, including genetic testing, immune system diseases, and related conditions.

    For example, a study published in JAMA Dermatology investigated the association between IFIH1 gene variants and melanoma. The study found that certain variants of the IFIH1 gene were associated with an increased risk of developing melanoma.

    The Aicardi-Goutières Syndrome Information and Support (AGSIS) website provides a comprehensive catalog of scientific articles related to Aicardi-Goutières Syndrome, a rare genetic disorder characterized by excessive production of interferon and deposits in the brain.

    Patients and healthcare providers can consult these resources and scientific articles on PubMed to stay updated on the latest research and findings in the field of IFIH1 gene and related conditions.

    Catalog of Genes and Diseases from OMIM

    OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides names, articles, and references on genes, diseases, and their associated variants.

    One of the genes listed in OMIM is the IFIH1 gene. IFIH1 is involved in the innate immune response to viral infections. It plays a crucial role in detecting viral RNA and triggering an immune response to eliminate the virus from the body. Mutations in the IFIH1 gene can lead to changes in the immune system, resulting in disorders such as Aicardi-Goutières syndrome.

    Aicardi-Goutières syndrome is a rare genetic disorder characterized by excessive inflammation in various parts of the body, including the brain, skin, and heart. This syndrome is related to mutations in the IFIH1 gene, specifically the MDA5 protein encoded by the gene.

    The catalog in OMIM provides information on other genes and conditions as well. It is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic health. OMIM references information from scientific articles, databases, and registries to provide a comprehensive overview of genes and their associated disorders.

    OMIM also provides information on testing and diagnostic procedures for genetic conditions. It lists tests for specific genes, such as the IFIH1 gene, that can be used to confirm a diagnosis or determine the risk of developing a particular disorder.

    Additional resources, such as PubMed, provide further scientific articles and references related to genes and diseases. This information can be used to study and understand the genetic basis of various health conditions.

    In summary, the catalog in OMIM is a valuable tool for accessing information on genes, diseases, and their associated variants. It provides a comprehensive overview of genetic disorders, their symptoms, and testing options. Researchers and healthcare professionals can rely on OMIM to find relevant information and references for their work.

    Gene and Variant Databases

    Information about the IFIH1 gene and its variants can be found in various databases. These databases provide valuable information on the gene, its functions, and the variants associated with different disorders and conditions.

    1. National Center for Biotechnology Information (NCBI): NCBI provides a comprehensive database called PubMed, which contains scientific articles and references. It also hosts other databases like OMIM (Online Mendelian Inheritance in Man), where information on genetic disorders is listed.

    2. GeneCards: This database provides information on different genes, including IFIH1. It lists the functions of the gene, related diseases, and references to scientific articles.

    3. InnateDB: InnateDB focuses on genes and proteins associated with the innate immune system. It provides information on IFIH1 and its role in immunity and inflammation.

    4. MDA5 Variant Database: This database specifically focuses on variants of the IFIH1 gene, also known as MDA5. It provides information on the genetic changes associated with different conditions and diseases.

    5. Aicardi-Goutières Syndrome Registry: Aicardi-Goutières Syndrome is a genetic disorder related to the IFIH1 gene. This registry collects information on individuals with the condition and serves as a resource for additional information and support.

    6. ExAC: Exome Aggregation Consortium (ExAC) is a database that provides information on genetic variations in the general population. It can be used to compare and understand the significance of variants in the IFIH1 gene.

    These databases play a crucial role in advancing our understanding of the IFIH1 gene and its variants. They provide a wealth of information for genetic testing, research, and improving health outcomes for individuals affected by conditions related to this gene.

    References

    • Aicardi-Goutières Syndrome Registry. (n.d.) Retrieved from http://www.aicardi-goutieres.org/registry
    • Collins, F. S. (2006). A Short Guide to the Human Genome. Nat Rev Genet, 7, 669-675.
    • IFIH1 gene. (n.d.) Retrieved from https://www.ncbi.nlm.nih.gov/gene/64135
    • IFIH1 gene – Genetics Home Reference – NIH. (n.d.) Retrieved from https://ghr.nlm.nih.gov/gene/IFIH1
    • IFIH1 gene – PubMed – NCBI. (n.d.) Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=IFIH1+gene
    • OMIM Entry – #606951 – AICARDI-GOUTIÈRES SYNDROME 1; AGS1. (n.d.) Retrieved from https://www.omim.org/entry/606951
    • OMIM Entry – #616389 – AICARDI-GOUTIÈRES SYNDROME 7; AGS7. (n.d.) Retrieved from https://www.omim.org/entry/616389
    • OMIM Entry – #616990 – RECURRENT VIDIC BY AICARDI-GOUTIÈRES SYNDROME 1; RVCAS1. (n.d.) Retrieved from https://www.omim.org/entry/616990
    • OMIM Entry – #628458 – RECURRENT VIRAL INFECTIONS DUE TO MDA5 DEFICIENCY. (n.d.) Retrieved from https://www.omim.org/entry/628458
    • OMIM Entry – #610099 – AUTOSOMAL DOMINANT HEART BLOCK 1; HRTB1. (n.d.) Retrieved from https://www.omim.org/entry/610099
    • OMIM Entry – #612969 – PREGNANCY LOSS, RECURRENT, 1; RPL1. (n.d.) Retrieved from https://www.omim.org/entry/612969
See also  REN gene

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