The F11 gene provides instructions for making a protein called coagulation factor XI. This protein is involved in the clotting process, which helps stop bleeding after an injury. Mutations in the F11 gene can lead to a deficiency of coagulation factor XI, resulting in a bleeding disorder.
The F11 gene is listed in the OMIM (Online Mendelian Inheritance in Man) database, where you can find additional information on related conditions and genetic testing. You can also find scientific articles on the F11 gene in PubMed, a database of references to scientific articles. Testing for F11 gene deficiency involves analyzing the DNA for genetic changes or mutations that can affect the production or function of coagulation factor XI.
Coagulation factor XI deficiency is a rare disorder, and its prevalence varies among different populations. Known genetic factors can play a role in determining if an individual will develop blood clots under certain conditions. The F11 gene, along with other genes involved in the clotting process, has been associated with an increased risk of thrombosis (blood clot formation).
For more information on the F11 gene and related conditions, you can explore genetic databases and resources such as the Genetic Testing Registry and the Catalog of Human Genes and Genetic Disorders. These resources can provide further insights into the role of the F11 gene in health and disease.
Health Conditions Related to Genetic Changes
Genetic changes in the F11 gene can lead to several health conditions. Here are some of the conditions related to these genetic changes:
- Factor XI Deficiency: Genetic changes in the F11 gene can cause a deficiency of Factor XI, also known as hemophilia C. This deficiency impairs the blood clotting process and can lead to excessive bleeding.
- Thrombosis: Certain genetic changes in the F11 gene have been associated with an increased risk of abnormal blood clots, which can cause thrombosis. Thrombosis is a serious condition that can lead to heart attacks, strokes, and other cardiovascular problems.
- Other Blood Clotting Disorders: In addition to Factor XI deficiency, genetic changes in the F11 gene can also contribute to other blood clotting disorders. These disorders can affect the normal function of various clotting factors in the bloodstream.
To learn more about these conditions and the genetic changes in the F11 gene, you can refer to the following resources:
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- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders and their associated genes. You can search for F11 gene-related conditions on this database.
- PubMed: PubMed is a scientific database that contains a vast collection of articles and references. You can find research articles related to the role of the F11 gene in various health conditions.
- The Human Gene Mutation Database (HGMD): This database catalogs genetic changes in various genes, including F11. It provides information on the names and effects of different variants.
- The Genetic Testing Registry (GTR): GTR is a resource that provides information on genetic tests for specific genes and conditions. It can help you find testing resources for F11 gene-related disorders.
By utilizing these resources, you can gather additional information on the health conditions related to genetic changes in the F11 gene. Remember to consult with healthcare professionals for proper diagnosis, testing, and management of these conditions.
Factor XI deficiency
Factor XI deficiency, also known as hemophilia C, is a genetic disorder that affects the blood clotting process. It is caused by mutations in the F11 gene, which provides instructions for making a protein called factor XI. This protein plays a crucial role in the cascade of biochemical reactions that leads to the formation of a blood clot.
Factor XI deficiency is inherited in an autosomal recessive pattern, which means that both copies of the F11 gene in each cell must have mutations for the disorder to be present. People with factor XI deficiency have a reduced amount of factor XI or a dysfunctional form of the protein, making it harder for blood clots to form. This can lead to prolonged bleeding after injuries or surgeries.
Factor XI deficiency is listed as a rare disease in various databases and resources, including the Online Mendelian Inheritance in Man (OMIM) catalog. The disorder has been the subject of numerous scientific articles and publications, which can be found in the PubMed database.
Testing for factor XI deficiency typically involves blood clotting tests, such as the activated partial thromboplastin time (aPTT). Genetic testing can also be performed to identify specific mutations in the F11 gene. This information can be used to confirm a diagnosis, assess the severity of the deficiency, and provide guidance for treatment options.
Treatment for factor XI deficiency may involve infusions of purified factor XI concentrate to help restore normal blood clotting. In some cases, additional measures may be needed to prevent excessive bleeding, such as avoiding certain medications or procedures that can increase the risk of bleeding.
It is important for individuals with factor XI deficiency to work closely with their healthcare providers to manage their condition. Resources such as patient registries, support groups, and educational materials can provide additional information and support for individuals and families affected by the condition.
For more information on factor XI deficiency, related genes, and other conditions, refer to the following resources:
- OMIM catalog: Provides detailed information on genetic disorders
- PubMed: A database of scientific articles and publications
- Factor XI Deficiency Registry: A registry for individuals with factor XI deficiency
Other Names for This Gene
The F11 gene is also known by several other names, including:
- Coagulation factor XI gene
- F11 coagulation factor XI gene, type 1 deficiency
- FXI
- FI11
- Pt
- PTA
- Thrombin
These names are used to refer to the same gene and are often used interchangeably in scientific articles, databases, and resources.
Additional Information Resources
Here is a list of additional resources that provide information on the F11 gene and related genetic factors:
- Genetic Testing: Genetic Testing Registry provides information on genetic tests for F11 deficiency.
- Scientific Articles: PubMed is a database of scientific articles. Search for F11 gene to find publications related to this factor.
- OMIM: Online Mendelian Inheritance in Man (OMIM) provides information on genetic factors and their role in diseases. F11 deficiency is listed on OMIM.
- Variant Databases: Various databases collect information on genetic variants. Check these databases for specific changes in the F11 gene.
- Additional Resources: Health registries and other related resources may provide further information on F11 deficiency and its role in various conditions.
These resources can help you explore the genetic factors, blood clotting, and thrombin-related diseases associated with F11 deficiency. Use the provided references to gather more information and learn about the role of this genetic factor in various conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing helps identify changes in genes that may be associated with various health conditions or disorders. In the case of the F11 gene, genetic testing can be used to detect factor XI deficiency, a blood clotting disorder.
The Genetic Testing Registry (GTR) is a catalog of genetic tests provided by various laboratories. It includes information on the name of the test, the gene or genes involved, the condition or disease being tested for, and the laboratory that offers the test.
Tests listed in the GTR related to the F11 gene include:
- Factor XI deficiency testing
- Testing for genetic changes in the F11 gene
- Thrombin generation testing
- Testing for the F11 gene variant associated with factor XI deficiency
These tests can help healthcare professionals diagnose factor XI deficiency, determine the risk of blood clots, and guide treatment decisions. Genetic testing can provide valuable information for patients and their families, allowing them to make informed decisions regarding their health.
For additional scientific information on the F11 gene and related conditions, the National Library of Medicine’s PubMed database is a valuable resource. PubMed provides access to a wide range of articles and references from scientific journals, providing further insight into the role of the F11 gene in factor XI deficiency.
Other databases, such as the Online Mendelian Inheritance in Man (OMIM), also contain information on genetic conditions and genes. These resources can be used to find more information on factor XI deficiency and the F11 gene.
Overall, the Genetic Testing Registry, PubMed, and other genetic databases offer valuable resources for understanding factor XI deficiency, the F11 gene, and related genetic conditions.
Scientific Articles on PubMed
- The role of the F11 gene in genetic deficiency of factor XI: additional resources for testing and information related to this disorder can be found on PubMed.
- Genetic factors and other genes listed in the references play a crucial role in the deficiency of factor XI.
- Health conditions related to genetic diseases and factor XI deficiency can be researched on PubMed.
- The Factor Catalog on PubMed provides information on genetic changes, tests, and databases for factor XI deficiency.
- Variant testing for the F11 gene can be performed to identify changes in the bloodstream associated with factor XI deficiency.
- Scientific articles on PubMed provide essential information on conditions such as blood clots and thrombin related to factor XI deficiency.
- OMIM is a valuable resource on PubMed for genetic information and conditions related to factor XI deficiency.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic disorders and their related genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs genetic variants and their association with diseases.
The F11 gene is one of the genes listed in the OMIM database. Variants in this gene can lead to a deficiency of thrombin, a key factor in the blood clotting process. This deficiency can result in a genetic disorder called factor XI deficiency.
Factor XI deficiency is a condition in which the blood is unable to clot properly. This can lead to an increased risk of bleeding, particularly in the bloodstream. To diagnose factor XI deficiency, blood tests can be conducted to detect any changes or abnormalities in the F11 gene or the factor XI protein.
The OMIM database provides additional resources and references for further information on factor XI deficiency and other related conditions. Scientific articles, registry information, and genetic testing resources can also be found in the OMIM database.
| OMIM | PubMed |
|---|---|
| Genes related to factor XI deficiency | Articles on factor XI deficiency |
| Other genetic databases | Articles related to factor XI deficiency |
By utilizing the resources available in the OMIM catalog, researchers and healthcare professionals can gain a better understanding of the role of the F11 gene and factor XI deficiency in human health. This knowledge can contribute to improved diagnosis, treatment, and management of factor XI deficiency and related disorders.
Gene and Variant Databases
When researching the F11 gene and its variants, it is essential to refer to various gene and variant databases for comprehensive information. These databases act as registries of genetic information, detailing the role of the F11 gene and its variants in various diseases and conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM), which provides a catalog of genetic disorders caused by mutations in the F11 gene. OMIM includes references to scientific literature and links to additional resources for further exploration.
Another valuable resource is the PubMed database, which contains a vast collection of scientific studies and publications related to the F11 gene. This database can provide valuable insights into the various roles of the F11 gene, its variants, and their associations with different health conditions.
The Factor XI Deficiency Mutation Database is a specialized database that specifically focuses on the F11 gene and its variants. It lists known genetic changes in the F11 gene that may result in factor XI deficiency, a disorder related to blood clotting.
In addition to these databases, there are other resources available that provide information on the F11 gene and its variants. These resources can include genetic testing labs, which offer tests to detect changes in the F11 gene for diagnostic purposes.
| Database | Description |
|---|---|
| OMIM | Catalog of genetic disorders associated with F11 gene variants |
| PubMed | Collection of scientific studies and publications related to the F11 gene |
| Factor XI Deficiency Mutation Database | Specialized database focusing on F11 gene variants and factor XI deficiency |
By utilizing these gene and variant databases, researchers can access comprehensive information related to the F11 gene and its variants. This information is crucial for understanding the genetic factors associated with diseases, such as factor XI deficiency and blood clotting disorders.
References
1. Additional information on F11 gene: NCBI Gene
2. Related databases and resources:
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HGNC: F11 gene: HGNC:3553
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OMIM: Factor XI Deficiency: OMIM:612416
3. PubMed articles related to F11 gene:
4. Registry of Health Conditions related to F11 gene:
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Factor XI Deficiency Registry: factorxi.org/registry
5. Scientific articles and resources on F11 gene:
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Role of F11 gene in blood clotting: PMC article
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Genetic changes in F11 gene associated with factor XI deficiency: PubMed article