The FGB gene, also known as the fibrinogen beta chain gene, is responsible for the production of the fibrinogen beta chain protein. Fibrinogen is an essential component in the blood clotting process, as it is converted into fibrin during coagulation. Changes or mutations in the FGB gene can lead to various disorders related to blood clotting, including congenital bleeding and thrombosis.
There are several variants of the FGB gene, each resulting in a different form of the fibrinogen beta chain protein. These variants can have functional consequences and are associated with specific diseases and conditions. For example, mutations in the FGB gene can cause afibrinogenemia, a rare congenital disorder characterized by a complete absence of fibrinogen in the blood.
Testing for changes in the FGB gene can be done through genetic testing and additional tests, such as functional assays and protein analysis, to determine the effect of these changes on fibrinogen production and function. Information about the FGB gene and its associated disorders can be found in various scientific databases and articles, including the Online Mendelian Inheritance in Man (OMIM) and PubMed.
For individuals affected by disorders related to the FGB gene, managing their health often involves close monitoring, appropriate medical treatment, and lifestyle adjustments to prevent complications such as excessive bleeding or thrombosis. The FGB gene is listed in the Human Gene Mutation Database (HGMD) and the Swiss-Prot database, providing valuable information for researchers and clinicians studying related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the FGB gene can result in various health conditions related to fibrinogen, a group of proteins that play a crucial role in blood clotting. These genetic changes can lead to congenital disorders such as afibrinogenemia, where the body is unable to produce functional fibrinogen.
There are several databases and resources available to obtain information about the FGB gene and related health conditions. The Online Mendelian Inheritance in Man (OMIM) is a valuable resource that provides detailed information on genes, genetic changes, and associated disorders. The PubMed database is a scientific resource that contains articles and references related to genetic changes in the FGB gene.
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Genetic testing is available to detect changes in the FGB gene and diagnose related health conditions. The testing can be done through various methods, including DNA sequencing, to identify specific genetic variants or changes.
The FGB gene is just one piece of the puzzle when it comes to understanding the genetic changes and health conditions related to fibrinogen. There are other genes and proteins involved in this complex process of blood clotting and thrombosis.
Additional resources include the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) database, which provide comprehensive information on genetic changes and associated health conditions.
Some of the health conditions listed in the OMIM database as related to genetic changes in the FGB gene include congenital afibrinogenemia, bleeding disorders, and thrombosis.
In conclusion, genetic changes in the FGB gene can lead to various health conditions related to fibrinogen and blood clotting. Resources such as databases, articles, and genetic testing can provide valuable information to understand and diagnose these conditions.
Congenital afibrinogenemia
Congenital afibrinogenemia is a rare genetic condition characterized by the absence of fibrinogen, a protein crucial for blood clotting. The condition is caused by mutations in the FGB gene, which provides instructions for making one of the three proteins that make up fibrinogen. Mutations in this gene result in the complete absence of functional fibrinogen, leading to severe bleeding episodes.
Patients with congenital afibrinogenemia often experience spontaneous bleeding, particularly in the muscles and joints. These bleeding episodes can be severe and recurrent, requiring regular replacement therapy with clotting factors derived from donated blood. Testing for congenital afibrinogenemia involves blood tests that measure the levels of fibrinogen in the blood.
Additional information about congenital afibrinogenemia, including genes, can be found on the OMIM (Online Mendelian Inheritance in Man) database. The OMIM database catalogs genes and genetic conditions with information on their associated phenotypes and genetic variants.
For clinicians and researchers, the FGB gene is listed in various genetic databases as associated with congenital afibrinogenemia. These resources provide information on the different genetic variants identified in this gene and their functional consequences.
A list of scientific articles and references related to congenital afibrinogenemia and the FGB gene can be found in the PubMed database. This database is a valuable resource for finding scientific literature on various diseases and proteins.
In addition, there are registries and organizations dedicated to providing support and information to individuals with rare bleeding disorders. These resources can help patients and healthcare professionals stay updated on the latest research and treatment options for congenital afibrinogenemia.
In summary, congenital afibrinogenemia is a rare genetic condition caused by mutations in the FGB gene, leading to the absence of functional fibrinogen. This results in severe bleeding episodes and requires regular replacement therapy. Multiple resources, such as databases and registries, provide information and support for this condition, aiding in research and patient care.
Other disorders
In addition to its role in fibrin formation, the FGB gene is associated with a variety of other disorders. These disorders are caused by changes in the genetic makeup of the FGB gene and can result in functional changes to the fibrinogen protein.
One of the most well-known disorders related to the FGB gene is afibrinogenemia. This is a congenital genetic condition characterized by a complete absence of fibrinogen in the blood. Individuals with this condition may experience severe bleeding and are at an increased risk of developing blood clots.
There are also several other genetic disorders associated with the FGB gene, including dysfibrinogenemia, hypofibrinogenemia, and afibrinogenemia due to mutations in other functional genes involved in fibrinogen synthesis.
Additional information about these disorders and genetic testing resources can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man), which catalogs information on genetic diseases, and the Human Gene Mutation Database (HGMD).
References to articles and studies related to these disorders can be found in PubMed, a comprehensive database of published scientific research.
Both researchers and healthcare professionals can consult these resources to access the latest information on the genetic changes associated with these disorders and for guidance on diagnostic testing and treatment options.
For a comprehensive catalog of disorders related to the FGB gene, the FGB gene entry in the OMIM database and the Genetic Testing Registry (GTR) are valuable resources that provide detailed information on the clinical features, genetic changes, and references for further reading.
Other Names for This Gene
The FGB gene is also known by other names:
- Fibrinogen beta chain gene
- FGB1
- FIBB
References to the FGB gene can be found in scientific articles and databases such as PubMed, OMIM, and genetic testing catalogs. Testing for changes in this gene can be done to diagnose and predict certain conditions and disorders related to fibrinogen, such as bleeding and thrombosis. Genetic changes in the FGB gene have been linked to congenital afibrinogenemia, a rare blood disorder.
Other genes that are related to the FGB gene in function or result in similar diseases or conditions include other fibrinogen genes and genes involved in the fibrinogen signaling pathway. These genes can be found in genetic databases and resources.
More information on the FGB gene and related conditions can be found in the Neerman-Arbez Congenital Fibrinogen Disorders Registry and other health resources.
Additional Information Resources
Here is a list of additional resources that provide information on the FGB gene, both functional and genetic changes associated with it, and related disorders:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders and their associated genes. OMIM entry for the FGB gene and related disorders can be found here.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “FGB gene” or related keywords will provide a list of articles and studies on this gene and its role in various conditions.
- Registry of Genetically Triggered Coagulation Disorders (Regiter): Register is a registry that collects data on congenital bleeding and thrombosis disorders. It provides information on patients with afibrinogenemia and other conditions related to the FGB gene. More information can be found here.
- Catalog of Human Fibrinogen Gene Variants: This catalog provides a comprehensive list of genetic changes and variants identified in the FGB gene. It includes information on the functional consequences of these changes and their association with different diseases. The catalog can be accessed here.
- Other Genetic Databases: Apart from OMIM and the Catalog of Human Fibrinogen Gene Variants, other genetic databases like Ensembl, HGNC, and GenBank also provide valuable information on the FGB gene, its functional changes, and associated disorders.
These resources offer a wealth of information on the FGB gene and its role in various cong
Tests Listed in the Genetic Testing Registry
In the field of health and specifically in the study of congenital disorders, genetic testing plays a crucial role. The FGB gene, which encodes fibrinogen beta chain, is one of the genes that have been extensively studied in this context.
Genetic Testing Registry (GTR) is a valuable resource that contains information on various genetic tests and associated genes. The FGB gene is listed in the GTR due to its relevance in the diagnosis and understanding of congenital disorders.
Some of the congenital disorders associated with variations in the FGB gene include fibrinogen deficiency, afibrinogenemia, and thrombosis. These conditions are characterized by abnormalities in blood clotting and can result in excessive bleeding or clotting, depending on the specific variant.
The GTR provides additional resources for further exploration of the FGB gene and its related disorders. It references scientific articles from PubMed and OMIM, two widely used scientific databases, for more detailed information on the genetic variant and associated conditions.
In addition to the FGB gene, the GTR catalog includes other genes involved in fibrinogen formation and function. These genes work together to ensure the proper structure and function of fibrinogen proteins in blood clotting. Changes in any of these genes can result in various diseases and conditions related to blood clotting disorders.
The GTR serves as a valuable piece of information for genetic testing laboratories, healthcare professionals, and researchers. It provides a comprehensive catalog of genetic tests available for various disorders and conditions, including those related to the FGB gene.
By listing the FGB gene and associated tests, the GTR helps in the identification and diagnosis of fibrinogen-related disorders. It also facilitates further research on the functional aspects of fibrinogen and its role in different diseases.
Scientific Articles on PubMed
In this section, we will explore the scientific articles on PubMed related to the FGB gene and its genetic variant, afibrinogenemia. Afibrinogenemia is a rare genetic disorder characterized by the absence of functional fibrinogen proteins in the blood, leading to a congenital bleeding disorder.
PubMed is a comprehensive database that catalogues scientific articles and references from various journals and databases. It serves as a valuable resource for researchers, health professionals, and individuals seeking information on genetic disorders and related conditions.
Both the FGB gene and afibrinogenemia are listed on PubMed, and this provides a wealth of information on the genetic changes associated with the condition, as well as additional conditions that may co-occur.
One notable study by Neerman-Arbez et al. explored the genetic variant of the FGB gene in individuals with afibrinogenemia. The researchers identified specific changes in the gene that result in the absence or functional impairment of fibrinogen proteins. This study provides valuable insights into the molecular basis of the condition and offers potential targets for diagnostics and therapeutic interventions.
Other articles in PubMed discuss the clinical manifestations of afibrinogenemia, including the risk of bleeding and thrombosis. These articles provide important information for healthcare professionals involved in the diagnosis and management of individuals with this condition.
Furthermore, PubMed serves as a platform for researchers and scientists to exchange information, collaborate on studies, and contribute to the collective knowledge of genetic disorders. This allows for continuous updates and advancements in the field of afibrinogenemia and other related diseases.
Overall, PubMed is a valuable resource for accessing scientific articles and information related to the FGB gene, afibrinogenemia, and other genetic disorders. Researchers, healthcare professionals, and individuals interested in these topics can utilize PubMed to stay informed about the latest research, testing protocols, and health-related findings.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It serves as a registry for both genetic conditions and the functional changes in genes that result in these conditions. One of the genes listed in the OMIM catalog is the FGB gene, which is associated with afibrinogenemia and other bleeding disorders.
Afibrinogenemia is a congenital condition characterized by the absence or significantly reduced levels of fibrinogen, a key protein involved in blood clot formation. Mutations in the FGB gene can lead to the production of dysfunctional fibrinogen or no fibrinogen at all, resulting in a higher risk of bleeding and thrombosis.
OMIM provides additional information on other genes and genetic disorders related to bleeding and clotting conditions. It includes names of proteins or functional changes associated with these genes and disorders. The catalog also references scientific articles from PubMed and other databases, providing a wealth of information for further research and testing.
Researchers and healthcare professionals can use the OMIM catalog as a valuable resource for understanding the genetic basis of various disorders and for genetic testing. The information available in OMIM can help in the diagnosis and management of congenital bleeding disorders and other genetic conditions.
| Gene | Disease |
|---|---|
| FGB | Afibrinogenemia and other bleeding disorders |
| Other genes | Related genetic disorders |
The OMIM catalog provides a centralized and comprehensive resource for researchers, clinicians, and patients seeking information on genetic disorders and the genes associated with them. With its extensive collection of gene-disease relationships, OMIM plays a crucial role in advancing our understanding of the genetic basis of congenital disorders and guiding clinical practice.
Gene and Variant Databases
Gene and variant databases are resources that provide information related to genes, proteins, and functional changes associated with certain genetic conditions. These databases are valuable for researchers, healthcare professionals, and individuals seeking information on specific gene variants and their impact on health.
One commonly used gene and variant database is OMIM (Online Mendelian Inheritance in Man), which catalogues information on genetic diseases and their associated genes. OMIM provides a comprehensive list of genes and their known variants, as well as references to scientific articles and other resources for further reading.
Another important database is the FGB Gene Variant Registry, which specifically focuses on variants in the FGB gene associated with congenital fibrinogen disorders. The registry provides a list of known variants and their impact on fibrinogen function. It also includes information on diagnostic testing for these disorders and references to published studies and articles.
For those interested in genetic testing and variant interpretation, databases like ClinVar and HGMD (Human Gene Mutation Database) are valuable resources. ClinVar collects data on genetic variants and their clinical significance, providing information on whether a variant is considered to be pathogenic, likely pathogenic, benign, or of uncertain significance. HGMD is a database that specifically focuses on disease-causing mutations in human genes, providing curated information on gene variants associated with various diseases.
These databases serve as central repositories of information on genes and variants, helping researchers and healthcare professionals better understand the genetic basis of diseases. They are an invaluable resource for studying and diagnosing genetic disorders, as well as for guiding personalized medicine approaches.
References
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Neerman-Arbez M. (2019). Fibrinogen and fibrinogen function in human blood. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1288/.
This comprehensive book chapter provides detailed information on the genetics, functional characteristics, and congenital disorders associated with the FGB gene and fibrinogen proteins.
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OMIM. (2021). Fibrinogen, Beta Chain; FGB. Retrieved from: https://omim.org/entry/613935.
OMIM is a valuable resource for genetic and scientific information. This entry on FGB provides a catalog of genetic abnormalities and changes in the FGB gene that are associated with different bleeding and thrombosis disorders.
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Neerman-Arbez M, et al. (2013). Mutations in the fibrinogen A alpha (FGA) gene are associated with congenital afibrinogenemia. Blood, 122(12), 1993-2000.
This research article describes the identification of mutations in the FGA gene that result in congenital afibrinogenemia, a rare bleeding disorder. It provides important insights into the genetic basis of this condition.
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Additional references and resources can be found through the PubMed database at https://pubmed.ncbi.nlm.nih.gov/ and other scientific literature databases. These sources contain articles on related topics such as fibrinogen function, gene mutations, and testing for genetic conditions associated with the FGB gene.