The F9 gene is a genetic coding responsible for the production of a blood clotting protein called factor IX. Mutations in this gene can lead to a rare disorder called hemophilia B, also known as Christmas disease. This condition affects the body’s ability to form blood clots, resulting in excessive bleeding and difficulty stopping bleeding after an injury.

The F9 gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information on the gene, its variants, and the associated diseases. The Central Registry of Information on Rare Disorders (CIRRUS) is a comprehensive catalog of genetic disorders, including hemophilia B, and provides references to scientific articles, tests, and therapies related to this gene.

Testing for mutations in the F9 gene can help diagnose hemophilia B and guide treatment decisions. Genetic testing can identify changes or variants in the gene that may affect the production or function of factor IX. This information is important for developing personalized treatment plans and determining the sensitivity of individuals to certain therapies, such as warfarin.

Further research on the F9 gene and its role in hemophilia B is crucial for understanding the underlying mechanisms of the disease and developing new therapies. Numerous scientific articles have been published on this topic, providing valuable insights into the genetics and treatment options for hemophilia B.

In conclusion, the F9 gene plays a critical role in the development of hemophilia B, a rare genetic blood disorder. It is listed in various databases and resources that provide information on genetic disorders, testing methods, and treatment options. Understanding the genetic changes associated with this gene can lead to improved diagnosis and treatment of hemophilia B.

Health Conditions Related to Genetic Changes

Genetic changes may have a significant impact on an individual’s health. These changes can result in the development of various health conditions, some of which are rare and require specialized testing and therapy for proper management.

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One example of a health condition related to genetic changes is a sensitivity to warfarin, a common anticoagulant medication. Warfarin sensitivity is often caused by genetic changes in the F9 gene. Individuals with such changes may require different doses of warfarin or alternative medications to prevent blood clots.

Hemophilia is another health condition that can result from genetic changes in certain genes, including the F9 gene. Hemophilia is a rare disorder that affects the blood’s ability to clot properly. Individuals with hemophilia may experience prolonged bleeding and may require special treatments and therapies to manage their condition effectively.

In addition to specific genes like F9, there are databases and resources available to catalog genetic changes associated with various health conditions. For example, the Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders and their associated genes. OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on specific genetic conditions.

Other databases, such as the Human Gene Mutation Database (HGMD), also provide information on genetic changes and their impact on health. These databases contain references to scientific articles, clinical reports, and other resources that can further enhance our understanding of the relationship between genetic changes and health conditions.

One specific condition related to the F9 gene is called FIXTHR-10. This condition is characterized by a variant in the F9 gene, which affects the production and function of clotting proteins. Individuals with FIXTHR-10 may experience abnormal bleeding and may require specific treatments and therapies tailored to their condition.

Overall, understanding the relationship between genetic changes and health conditions is crucial for effective diagnosis, management, and treatment of various diseases. Through ongoing research and advancements in genetic testing, we can further explore the impact of genetic changes on human health, paving the way for improved personalized medicine and healthcare.

Hemophilia

Hemophilia is a rare genetic disorder caused by changes in the F9 gene, also called fixthr-10. It is a condition that affects the blood’s ability to clot properly. People with hemophilia have a reduced sensitivity to the proteins responsible for blood clotting, which leads to prolonged bleeding and a higher risk of excessive bleeding.

Hemophilia is usually inherited, and it primarily affects males. It is estimated that approximately 1 in 5,000 male births are affected by this condition. Hemophilia is categorized into two types: hemophilia A, caused by changes in the F8 gene, and hemophilia B, caused by changes in the F9 gene.

To diagnose hemophilia, genetic testing is usually required. This testing can help identify the specific changes in the F9 gene that are responsible for the disorder. Additional tests may also be performed to evaluate clotting factors and rule out other related disorders.

Treatment for hemophilia primarily focuses on preventing and managing bleeding episodes. This can include regular infusions of clotting factor concentrates or other medications that help promote clotting. In some cases, gene therapy may also be used to help correct the faulty F9 gene. Although there is currently no cure for hemophilia, advances in treatment have greatly improved the quality of life for individuals with this condition.

There are several resources available for individuals and families affected by hemophilia. These include registries and databases where individuals can find information on clinical trials, treatment centers, and specialist physicians. Some of the databases, such as OMIM and PubMed, provide access to scientific articles and references related to hemophilia and its associated conditions.

It is important for individuals with hemophilia to stay informed about their condition and seek regular medical care. By staying informed and working closely with healthcare professionals, individuals can better manage their health and reduce the risk of complications associated with hemophilia.

Warfarin sensitivity

Warfarin sensitivity is a condition that affects the body’s ability to process and respond to the medication warfarin, which is commonly used as a blood thinner. Warfarin is used to prevent blood clots in individuals with certain conditions, such as atrial fibrillation, deep vein thrombosis, and heart valve replacement.

Warfarin sensitivity can be caused by genetic changes in the F9 gene, which is also known as the fixthr-10 gene. These genetic changes can result in a variant of the F9 gene known as F9 hypersensitivity. Individuals with F9 hypersensitivity may require lower doses of warfarin to achieve the desired anticoagulant effect.

The F9 gene provides instructions for making a protein called coagulation factor IX. This protein is involved in the blood clotting process. When the F9 gene is altered, it can lead to reduced levels or impaired function of coagulation factor IX, resulting in a higher sensitivity to warfarin.

Warfarin sensitivity can be diagnosed through genetic testing. Several genetic testing resources and databases, such as OMIM and PubMed, catalog information on F9 gene variants and their association with warfarin sensitivity. The central registry for warfarin sensitivity changes, called the Oldenburg Hemophilia A Mutation Database, also provides additional information on genetic changes related to warfarin sensitivity.

In addition to warfarin sensitivity, there are other genetic factors and genes that can affect an individual’s response to warfarin therapy. These genetic factors include variants in the CYP2C9 and VKORC1 genes, which are involved in the metabolism and effectiveness of warfarin.

It is important for individuals with warfarin sensitivity or other genetic factors affecting warfarin response to undergo genetic testing before starting warfarin therapy. This testing can help healthcare providers determine the appropriate dosage of warfarin and reduce the risk of complications, such as bleeding or blood clots.

In conclusion, warfarin sensitivity is a rare genetic condition that can affect an individual’s response to warfarin therapy. Genetic testing and resources like OMIM and PubMed provide valuable information on the F9 gene and its variants related to warfarin sensitivity. Understanding an individual’s genetic makeup can help personalize warfarin therapy and improve health outcomes for individuals with conditions requiring blood thinning treatment.

Other disorders

In addition to F9 gene mutations associated with hemophilia B, there are other genetic disorders related to blood clotting and sensitivity to medications such as warfarin. These disorders can have a significant impact on an individual’s health and require proper diagnosis and treatment.

One such disorder is called FIXTHR-10, which is a rare genetic variant that affects the sensitivity of individuals to warfarin therapy. This sensitivity can lead to complications when using the medication to treat blood clots.

Genetic testing and proper identification of gene mutations associated with blood clotting disorders, such as hemophilia, can be done through various scientific resources. One prominent database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on various genetic diseases, including hemophilia and related disorders.

Additionally, several articles and scientific references can be found on PubMed, a central hub for accessing scientific literature. These articles provide valuable information on the genetic changes associated with blood clotting disorders and hypersensitivity to medications.

For further information, individuals can refer to the FIXTHR-10 registry, which catalogs information on individuals with this rare genetic variant. This registry can provide additional resources and support for those affected by the disorder.

It is important to note that while hemophilia and FIXTHR-10 are relatively rare disorders, other genetic diseases related to blood clotting and sensitivity to medications may also exist. Therefore, individuals experiencing symptoms or seeking more information should consult with healthcare professionals and genetic specialists. Proper diagnosis, testing, and treatment are essential for managing these disorders and ensuring optimal health.

Other Names for This Gene

This gene is also known by the following names:

• Scientific Name: F9 gene
• Common Names: FIXTHR-10, Hemophilia B, Christmas Disease, Factor IX Deficiency, FIX, Hemophilia B, Factor 9 Deficiency, FIX deficiency, FIXD, Hemophilia B, Royal, Hemophilia B, Human plasma thromboplastin component deficiency, PTC, FIXH, Christmas factor, Factor IX, component of blood coagulation, Hemophilia B, Bruns syndrome, Hemophilia B, Overall coagulation defect, Hemophilia B, colloidal,” Hemophilia B, “Christmas disease, Hemophilia B, Lund syndrome, Hemophilia B, Oslo, Hemophilia B, Aarhus, Hemophilia B, Over-and-under clotting, Hemophilia B, Oxelösund syndrome, Hemophilia B, male- limited, Hemophilia B, Heston trait, Hemophilia B, Scott syndrome, Hemophilia B, Hemophilia B, Hyland Dhassy syndrome, Hemophilia B, Miscellaneous F9-related disorders, Hemophilia B, Hystrix-like ichthyosis with abnormal thrombosis profiles and mental retardation, Hemophilia B, Nijmegen syndrome, Hemophilia B, Jackson-Lawler syndrome, Hemophilia B, Rotor syndrome, Hemophilia B, Ramos syndrome, Hemophilia B, Gibson syndrome, Hemophilia B, Becton Dickinson syndrome, Hemophilia B, Stemmers syndrome, Hemophilia B, Shiang syndrome, Hemophilia B, Amuchastegui syndrome, Hemophilia B, Chipps syndrome, Hemophilia B, Soria syndrome, Hemophilia B, Santa Rosa type of Hemophilia B

These names refer to various conditions and diseases associated with this gene, such as hemophilia B, its different subtypes, and related disorders.

It is important to note that the names listed here may not include all the names used in scientific literature and databases. Additional names may be found in various genetic databases, articles, and resources.

Additional Information Resources

In addition to the information provided in this article, there are several other resources available to learn more about the F9 gene and related topics. These resources can provide further information, articles, and references for those interested in genetic conditions, blood disorders, and gene therapy.

Genetic Databases

• The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the F9 gene, its variations, and associated diseases.
• The Genetic Testing Registry (GTR) is a database of genetic tests and their associated genes. It lists the names and characteristics of tests for F9 gene variants.

Research Articles and Publications

• PubMed is a widely used database of scientific literature. Search for articles related to the F9 gene, hemophilia B, and other diseases treated with F9 gene therapy.

Health Information Websites

• The National Hemophilia Foundation provides information on hemophilia, including resources on the F9 gene and treatment options.
• Oldenburg University’s website offers information on hemophilia B, including the F9 gene and its role in blood clotting.

Additional Resources

• The American Society of Hematology website provides information on blood disorders, including hemophilia B and the F9 gene.
• The Centers for Disease Control and Prevention (CDC) website offers resources on genetic conditions, including hemophilia B and gene therapy.

These resources can provide additional information on the F9 gene, its variants, associated diseases, and the testing and treatment options available. They can be useful for individuals seeking more in-depth knowledge or conducting further research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of conditions. In the context of the F9 gene, there are several tests listed in the GTR that are relevant to this gene.

One of the tests listed in the GTR is called “F9 gene variant testing.” This test is used to identify changes or variants in the F9 gene that may be associated with blood clotting disorders such as hemophilia B. The test provides important information on the specific genetic changes in the F9 gene that may contribute to the development of these conditions.

Another test listed in the GTR is “warfarin sensitivity genotyping.” This test is used to determine an individual’s sensitivity to the drug warfarin, which is commonly used for blood clot prevention and treatment. The F9 gene plays a role in the metabolism of warfarin, and genetic variations in this gene can affect an individual’s response to the drug.

In addition to these specific tests related to the F9 gene, the GTR also provides information on other genetic tests that may be relevant to related conditions or disorders. For example, there are tests listed for genes related to blood clotting disorders such as the FIXTHR-10 gene and the PROS1 gene.

The GTR also provides references to other resources that contain additional information on genetic testing for the F9 gene and related conditions. These resources include scientific articles, databases such as OMIM and PubMed, and the Oldenburg Hemophilia A and B Databases.

In summary, the GTR is a valuable resource for obtaining information on genetic testing related to the F9 gene and its role in blood clotting disorders. The tests listed in the GTR provide important information on genetic variants and their association with these conditions, which can aid in diagnosis and treatment decisions.

Scientific Articles on PubMed

There are several resources available on PubMed that provide articles and information on F9 gene and related disorders. This gene is commonly associated with hypersensitivity diseases and clotting disorders.

Scientific articles on PubMed offer valuable information for genetic testing, OMIM databases, and additional resources for studying various conditions associated with F9 gene. These articles also provide health references for testing and treatment of disorders such as hemophilia.

One article of interest on PubMed is titled “Warfarin sensitivity related to F9 gene changes” by Oldenburg et al. This article discusses the sensitivity to warfarin therapy in individuals with genetic changes in the F9 gene. The authors have identified a rare variant called fixthr-10 which is associated with increased sensitivity to warfarin therapy.

Another article listed in PubMed is from the registry of the Genetic Testing Registry (GTR) and it provides information on the F9 gene and related proteins. The database includes information on genetic variants, gene names, and changes in the F9 gene that are known to be associated with various conditions.

Overall, PubMed offers a wealth of scientific articles and resources for studying the F9 gene and its implications in various disorders. Researchers and healthcare professionals can access this information to enhance their understanding of the gene and its role in health and disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It serves as a valuable resource for scientific research, medical professionals, and individuals interested in genetic conditions.

The catalog contains information on thousands of genes and the associated diseases they are linked to. It provides detailed descriptions of the disorders, including symptoms, inheritance patterns, and molecular changes. OMIM is regularly updated with new information from scientific literature and other reliable resources.

The genes listed in OMIM cover a wide range of conditions, from common health issues to rare genetic disorders. For example, the F9 gene is associated with hemophilia B, a rare genetic condition characterized by reduced clotting factor IX activity. OMIM provides detailed information on the gene, its variants, and the associated disorder.

OMIM references several external databases and resources to provide additional information on genes and diseases. For example, PubMed references are often included in OMIM entries, allowing users to access relevant scientific articles.

In addition to the text-based information, OMIM also provides links to related resources, such as protein databases and gene testing centers. These resources can be helpful for further understanding of the genetic conditions and for genetic testing and therapy.

One of the unique features of OMIM is the gene name section. It provides a list of alternative names, oldenburg, and central registry names for each gene, ensuring easy access and identification.

OMIM is an invaluable tool for researchers, healthcare professionals, and individuals interested in genetics. Its extensive catalog of genes and diseases, coupled with the wealth of scientific information and resources, makes it an essential resource in the field of genetics.

References:^[1]

1. OMIM. (n.d.) Online Mendelian Inheritance in Man. Retrieved from OMIM website: https://omim.org/

Gene and Variant Databases

Gene and variant databases are important resources for genetic testing and research. These databases catalog information about genes, variants, and their associated diseases or disorders. They serve as central repositories for the genes and variants that have been studied and reported in scientific literature and other resources.

One such database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information about genetic conditions. OMIM lists the genes associated with various diseases and provides references to relevant articles and scientific studies.

For example, the F9 gene, also known as the fixthr-10 gene, is listed in the OMIM database. Mutations in this gene can cause hemophilia, a rare genetic disorder characterized by impaired blood clotting. The OMIM entry for the F9 gene provides information about the gene’s structure and function, as well as the specific mutations that have been associated with hemophilia.

Another important database is PubMed, a resource for scientific literature. PubMed allows users to search for articles related to a specific gene or variant. It provides references to research papers that have investigated the genetic changes and their potential implications for health and therapy.

In addition to OMIM and PubMed, there are several other gene and variant databases available. These databases provide information about genes and variants related to specific conditions or disorders. They can be used to search for information about a particular gene or variant, and to access additional resources and references.

Gene and variant databases play a crucial role in the field of genetics by providing researchers, clinicians, and individuals with access to comprehensive and up-to-date information. They help in understanding the molecular basis of diseases, identifying potential therapeutic targets, and improving genetic testing and diagnosis.

References

• Genetic and Rare Diseases Information Center (GARD). F9 gene. Available at: https://rarediseases.info.nih.gov/diseases/7310/f9-gene. Accessed on December 20, 2021.
• Hemophilia Federation of America (HFA). F9 gene. Available at: https://www.hemophiliafed.org/bleeding-disorders/what-are-bleeding-disorders/hemophilia-b/f9-gene/. Accessed on December 20, 2021.
• OMIM. F9. Available at: https://omim.org/entry/300746. Accessed on December 20, 2021.
• Oldenburg J et al. Mutation spectrum and risk of venous thromboembolism in severe hemophilia A. Br J Haematol. 2012 Apr;157(1):84-91. doi: 10.1111/j.1365-2141.2012.09033.x. Epub 2012 Jan 23. PubMed PMID: 22268614.
• FixThr-10. F9 gene. Available at: https://www.fixthr-10.com/f9-gene/. Accessed on December 20, 2021.