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The F13B gene is responsible for encoding the coagulation factor XIII B subunit, which is a clotting factor in the blood. Testing for F13B gene deficiency can help diagnose certain clotting disorders. Variants in this gene can be identified and characterized using genetic testing.

Information about the F13B gene and its variants can be found in various genetic databases and resources. One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogues information about genes and genetic conditions. Scientific articles listed in PubMed also provide additional information about the function and role of the F13B gene.

F13B gene deficiency is an age-related condition that can lead to changes in clotting function. It is also associated with other health conditions, such as macular degeneration. The F13B gene has been identified as a genetic risk factor for this degenerative disease.

References:

Genetic changes in the F13B gene can lead to health conditions related to blood clotting and age-related macular degeneration.

One health condition related to genetic changes in the F13B gene is factor XIII deficiency. Factor XIII is a protein that plays a crucial role in blood clotting. Genetic changes in the F13B gene can result in a deficiency of this protein, leading to an increased risk of abnormal blood clotting.

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Another health condition related to genetic changes in the F13B gene is age-related macular degeneration (AMD). AMD is a degenerative disease that affects the macula, the central part of the retina responsible for sharp central vision. Genetic variations in the F13B gene have been found to be associated with an increased risk of AMD.

To determine if genetic changes in the F13B gene are present, individuals can undergo genetic testing. Genetic tests can detect specific changes or variations in genes and provide information about a person’s risk of developing certain health conditions. Testing for F13B gene changes may be performed through different types of genetic tests, including sequencing or targeted variant testing.

For more information on the F13B gene and related health conditions, you can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on genes, genetic changes, and associated health conditions.

In conclusion, genetic changes in the F13B gene can result in health conditions such as factor XIII deficiency and age-related macular degeneration. Testing for these genetic changes can provide individuals with important information about their risk of developing these conditions.

Factor XIII deficiency

Factor XIII deficiency is a rare genetic disorder characterized by a deficiency of the clotting factor XIII. This condition affects the ability of blood to clot properly, leading to an increased risk of abnormal bleeding, poor wound healing, and other related health problems.

Registry: There is a registry for Factor XIII deficiency that helps collect data on affected individuals to better understand the condition and improve patient care.

Symptoms: Symptoms of Factor XIII deficiency can vary widely, but may include easy bruising, nosebleeds, joint pain, and abnormal bleeding following injury or surgery.

Function of Factor XIII: Factor XIII plays a crucial role in the final stages of blood clot formation. It helps stabilize the clot by crosslinking fibrin, the protein that forms the clot, making it stronger and more resistant to degradation.

Testing and Diagnosis: Factor XIII deficiency can be diagnosed through laboratory tests that measure the levels and activity of the factor. Genetic testing can also be performed to identify specific changes in the F13B gene associated with the deficiency.

Treatment: Treatment for Factor XIII deficiency may involve regular infusions of factor XIII concentrate to prevent bleeding episodes and promote better wound healing.

See also  GLA gene

Resources and Information: Additional information on Factor XIII deficiency, including testing resources and support, can be found through scientific databases such as PubMed and OMIM. These resources provide access to articles, genetic databases, and other related information.

Related Conditions: Factor XIII deficiency is closely related to other clotting disorders, such as von Willebrand disease and hemophilia. These conditions involve deficiencies or abnormalities in other clotting factors.

Age-related degeneration: Factor XIII deficiency is a genetic condition and is not related to age-related degeneration.

Variant genes: In addition to the F13B gene, other genes can also play a role in Factor XIII deficiency. These genes may be involved in the production or function of other clotting factors.

References:

  • PubMed: [insert link to PubMed]
  • OMIM: [insert link to OMIM]

Additional Resources:

  • [insert name of testing catalog or website]
  • [insert name of genetic testing database or website]

Related Articles:

  • [insert titles of related articles]

Age-related macular degeneration

Age-related macular degeneration (AMD) is a degenerative disease of the macula, which is the central part of the retina that is responsible for sharp, central vision. It is the leading cause of vision loss in older adults.

AMD is a complex condition that involves multiple genetic and environmental factors. One of the genes that has been found to be associated with AMD is the F13B gene.

The F13B gene provides instructions for making a protein called coagulation factor XIII B (F13B). This protein is involved in the formation of fibrin clots, which are necessary for normal blood clotting. Genetic changes in the F13B gene can lead to a deficiency or dysfunction of factor XIII B, resulting in abnormal clot formation.

Research has shown that certain genetic variants of the F13B gene are associated with an increased risk of AMD. These variants may affect the function of factor XIII B or alter its levels in the blood, leading to an increased risk of abnormal clot formation in the macula.

Age-related macular degeneration is a complex disease that is influenced by both genetic and environmental factors. In addition to genetic changes, other factors such as aging, smoking, and high blood pressure have been linked to an increased risk of AMD.

For additional information on age-related macular degeneration, you can refer to the following resources:

  • PubMed: A scientific database that provides access to a vast collection of biomedical literature, including articles on AMD and related conditions.
  • OMIM: An online catalog of human genes and genetic conditions. It contains detailed information on the F13B gene and its association with AMD.
  • Genetic testing: Testing for genetic changes in the F13B gene and other genes associated with AMD can be done through specialized genetic testing services.
  • Registry of genetic tests: A database that provides information on genetic tests available for different health conditions, including AMD.

In summary, the F13B gene is one of the genes associated with age-related macular degeneration. Genetic changes in this gene can lead to a deficiency or dysfunction of factor XIII B, which is involved in the formation of fibrin clots. Additional research and resources are available for further information on this topic.

Other Names for This Gene

This gene is also known by the following names:

  • F13B – Factor XIII B subunit
  • Fibrinogen beta chain – This gene encodes the beta chain of fibrinogen, a clotting factor that is essential for blood coagulation
  • Fibrinogen B beta polypeptide – This gene codes for the beta polypeptide of fibrinogen B, which is involved in blood clotting
  • FIBB – This gene is also called fibrinogen beta chain and encodes a protein that is part of the blood clotting process

In addition to these names, this gene is also referred to by other alternative names, including:

  • F13B deficiency – A condition characterized by a deficiency in the factor XIII B subunit
  • Factor XIII B subunit deficiency – A genetic disorder that leads to a deficiency in the factor XIII B subunit
  • Macular degeneration, age-related, 1 – A degenerative eye disease that is associated with changes in the F13B gene

For more information about this gene, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man catalog contains information about genetic conditions and diseases related to the F13B gene
  • PubMed: Scientific articles and research papers about the F13B gene can be found in the PubMed database
  • Genetic Testing Registry: This database provides information about genetic tests for diseases related to the F13B gene
See also  ALS2 gene

References:

  1. F13B gene – Genetics Home Reference. U.S. National Library of Medicine, 18 June 2021, ghr.nlm.nih.gov/gene/F13B.
  2. Suzuki, Keiji, et al. “F13B Gene.” GeneCards | F13B Gene, www.genecards.org/cgi-bin/carddisp.pl?gene=F13B.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the F13B gene, including genetic variants, related diseases, and scientific articles. Visit OMIM for more information.
  • PUBMED: The PubMed database contains a wealth of scientific articles on the F13B gene and its related functions, deficiency, and diseases. Explore PubMed to access relevant research articles.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about available genetic tests for F13B gene-related disorders and deficiencies. Learn more about testing options at Genetic Testing Registry.
  • Other Databases: Various other databases list F13B gene-related information, such as gene function, variants, and associated diseases. These include GeneCards, Ensembl, and UniProt. Refer to these databases for additional data.

For more resources specific to F13B gene deficiency and related conditions like age-related macular degeneration and clotting disorders, the following sources may be helpful:

  1. National Institute of Health: The National Institute of Health provides information on F13B gene deficiency, including symptoms, diagnosis, and treatment options. Visit the NIH website for detailed information.
  2. Disease-specific Organizations and Foundations: Disease-specific organizations and foundations focusing on age-related macular degeneration, clotting disorders, and related conditions often provide resources, support, and education. Consider exploring organizations like the American Macular Degeneration Foundation and the National Blood Clot Alliance.
  3. References and Articles: References and articles cited in scientific publications and reviews can provide additional insights into the F13B gene and its role in different diseases. Review these sources for in-depth information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive and reliable resource for information regarding genetic tests. In the context of the F13B gene, the GTR provides a list of tests related to deficiency in Factor XIII B (F13B), a clotting factor.

Factor XIII B deficiency is a rare inherited condition that affects the blood’s ability to form clots. Genetic testing can help diagnose this condition and identify changes or variants in the F13B gene associated with the deficiency. The GTR lists various tests that focus on different genes and factors involved in clotting, including the F13B gene.

In addition to the F13B gene, there are other genes and genetic changes that can contribute to clotting disorders. The GTR provides information on tests for these related genes and variants, giving clinicians and researchers a comprehensive view of genetic factors influencing clotting function.

The GTR is a valuable scientific tool that catalogues and organizes genetic tests from various health resources. It includes references to scientific articles, databases like PubMed, and other relevant sources. This wealth of information allows for better understanding and research on genetic conditions related to clotting, such as Factor XIII B deficiency and age-related macular degeneration.

For more information on tests related to the F13B gene and clotting disorders, please refer to the Genetic Testing Registry.

Scientific Articles on PubMed

The F13B gene, also known as the coagulation factor XIII B subunit gene, provides genetic information related to factor XIII deficiency. Factor XIII deficiency is a rare inherited disorder that affects the clotting of blood, leading to various health conditions.

F13B gene mutations are linked to factor XIII deficiency and its related diseases. The Online Mendelian Inheritance in Man (OMIM) database lists several genetic changes in the F13B gene that are associated with factor XIII deficiency. These changes can cause clotting abnormalities and contribute to the development of age-related macular degeneration.

The F13B gene is of particular interest in scientific research related to clotting disorders. PubMed, a comprehensive database of scientific articles, contains numerous resources discussing the role of the F13B gene in clotting disorders and other related conditions. These articles explore the function of the F13B gene and its contribution to various diseases.

Genetic testing for F13B gene variants can provide additional information to diagnose and manage factor XIII deficiency and related conditions. Various databases offer genetic testing options and provide comprehensive information on the F13B gene and other genes involved in clotting disorders.

See also  Hereditary antithrombin deficiency

Scientific articles indexed in PubMed can provide valuable insights into the research conducted on the F13B gene and its related diseases. These articles serve as references for health professionals and researchers interested in understanding the genetic basis and molecular mechanisms underlying factor XIII deficiency and related conditions.

In conclusion, the F13B gene plays a crucial role in factor XIII deficiency, clotting disorders, and age-related macular degeneration. Scientific articles available on PubMed provide important information and resources for further understanding the genetic aspects and clinical implications of the F13B gene and related genes involved in clotting disorders.

Catalog of Genes and Diseases from OMIM

The F13B gene is a key factor in the clotting process and is also known as coagulation factor XIII B chain. Its role is to stabilize blood clots and prevent excessive bleeding. Changes in this gene can lead to age-related macular degeneration and other clotting disorders.

OMIM, which stands for Online Mendelian Inheritance in Man, is one of the most comprehensive genetic databases available. It catalogs genes and diseases and provides information about their functions, associated tests, and references to scientific articles.

OMIM lists several related genes and diseases in addition to F13B. For F13B deficiency, OMIM provides information on genetic testing, additional resources, and references to scientific articles about this condition. It also includes information about other clotting factor deficiencies and related diseases.

By using OMIM, researchers and healthcare professionals can access a wealth of information related to the F13B gene and its function, tests, and associated diseases. They can also find references to scientific articles and additional resources for further exploration.

Gene Disease Function
F13B Factor XIII B deficiency Stabilizes blood clots
Other related genes Related diseases Various functions

Research articles about F13B and its related genes and diseases can be found on PubMed, a popular resource for scientific literature. The OMIM database provides references to relevant articles for further reading and exploration.

In summary, OMIM is a valuable catalog of genes and diseases, including F13B and its related genes. It provides comprehensive information about their functions, associated tests, and references to scientific articles. Healthcare professionals and researchers can utilize OMIM to better understand genetic conditions like F13B deficiency and related diseases.

Gene and Variant Databases

Gene and variant databases are valuable scientific resources that provide information on genes, variants, and related conditions. These databases are essential for researchers, clinicians, and individuals interested in understanding genetic factors and their impact on health.

One well-known gene database is the Online Mendelian Inheritance in Man (OMIM), which catalogues information on genetic diseases. OMIM provides comprehensive references on gene names, variants, and associated conditions, including age-related macular degeneration and fibrin clotting deficiency.

Another significant gene database is PubMed, which houses a vast collection of scientific articles and references related to genes, variants, and diseases. PubMed is an excellent resource for additional information and research on the F13B gene, its variants, and its role in fibrin clotting function.

For individuals interested in genetic testing, gene and variant databases play a crucial role in identifying relevant tests and interpreting their results. These databases provide a comprehensive list of tests for various diseases associated with specific genes, including the F13B gene.

Furthermore, gene and variant databases often include information on the functional changes associated with different variants. This information helps researchers and clinicians understand the impact of specific genetic changes on the gene’s function and its potential implications for health.

In summary, gene and variant databases are essential resources for researchers and clinicians studying genetic factors and diseases. These databases provide access to valuable information on genes, variants, associated conditions, and testing options. They serve as a foundation for scientific research, clinical decision-making, and improving overall health outcomes.

References

  • Related articles on F13B gene: PubMed
  • Health conditions related to F13B gene: OMIM
  • Other genes related to factor XIII deficiency: Gene Database
  • Scientific articles on factor XIII deficiency and age-related macular degeneration: PubMed
  • XIIIth Factor Registry: Factor XIII Registry
  • Catalog of genetic tests for F13B gene: Genetic Testing Registry
  • Variant testing for F13B gene deficiency: ClinVar
  • Additional resources for F13B gene-related diseases: NIH Bookshelf

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