The FGA gene is a variant of the alpha-chain of fibrinogen, a blood protein. Fibrinogen is essential for normal blood clotting. Changes in the FGA gene can cause various health conditions.
Some people with changes in the FGA gene have a condition called congenital afibrinogenemia, where they have no copies of the gene and are unable to produce fibrinogen. This can lead to severe bleeding and other complications. Others may have a different variant of the gene that results in a milder form of the condition.
The FGA gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide information on the gene, related genes, and associated disorders, as well as references to scientific articles and cases.
Testing the FGA gene can be done clinically to diagnose congenital afibrinogenemia and other fibrinogen disorders. The results of these tests can provide valuable information for managing the condition and assessing the risk of complications.
In summary, changes in the FGA gene can lead to various blood clotting disorders, including congenital afibrinogenemia. The FGA gene is listed in genetic databases and resources, and testing for changes in this gene can provide important clinical information.
Health Conditions Related to Genetic Changes
Genetic changes in the FGA gene are associated with various health conditions and disorders.
One of the most well-known conditions associated with genetic changes in the FGA gene is congenital afibrinogenemia. This rare condition is characterized by the complete absence or severe reduction of fibrinogen, a key protein involved in blood clotting. People with congenital afibrinogenemia are at an increased risk of bleeding, including spontaneous bleeding episodes and excessive bleeding following injuries or surgeries.
Another condition related to genetic changes in the FGA gene is thrombosis. Thrombosis refers to the formation of blood clots within blood vessels, which can lead to serious complications such as heart attacks and strokes. Genetic changes in the FGA gene can increase the risk of abnormal blood clot formation, leading to thrombosis.
These health conditions can be diagnosed through genetic testing. Genetic tests can identify changes in the FGA gene and provide valuable information for diagnostic purposes. Testing for genetic changes in the FGA gene can be especially useful in cases where there is a family history of afibrinogenemia or thrombosis.
For additional information on health conditions related to genetic changes in the FGA gene, you can refer to scientific articles and resources. The OMIM database and PubMed are valuable resources for finding articles and references on these topics.
| OMIM Database: | Provides information on genetic disorders and diseases |
| PubMed: | A database of scientific articles |
| ClinVar Registry: | Listed cases of genetic changes in the FGA gene and associated health conditions |
| Antonarakis et al.: | A scientific article on genetic changes in the FGA gene and related health conditions |
| Neerman-Arbez et al.: | A scientific article on the alpha-chain variants of the fibrinogen gene |
Overall, genetic changes in the FGA gene can result in various health conditions and disorders, including congenital afibrinogenemia and thrombosis. Further research and testing are necessary to better understand the impact of these genetic changes and to develop appropriate treatments and management strategies for affected individuals.
Congenital afibrinogenemia
Congenital afibrinogenemia is a rare genetic disorder characterized by a complete absence or severe deficiency of fibrinogen in the blood. Fibrinogen is one of the key proteins involved in blood clotting, and its absence or deficiency leads to a bleeding tendency.
This condition is caused by mutations in the FGA gene, which provides instructions for making the alpha-chain of fibrinogen. These genetic changes prevent the production of functional fibrinogen, resulting in the absence or severe deficiency of this protein.
Individuals with congenital afibrinogenemia are at risk for spontaneous bleeding, including severe bleeding after trauma or surgery. They may also experience recurrent nosebleeds, easy bruising, and prolonged bleeding after dental procedures.
Information about this rare disorder can be found in scientific articles, medical textbooks, and online resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The OMIM database provides detailed clinical information, genetic testing resources, and a registry of related cases. PubMed is a comprehensive database of scientific articles and references on a wide range of health topics.
To diagnose congenital afibrinogenemia, genetic testing can be performed to identify mutations in the FGA gene. This information can help confirm the diagnosis and guide treatment strategies.
Treatment for congenital afibrinogenemia typically involves replacement therapy, where fibrinogen is infused into the bloodstream to prevent bleeding episodes. Regular monitoring of blood clotting factors and prophylactic treatment before surgeries or dental procedures is also important in managing this condition.
It is important for individuals with congenital afibrinogenemia and their families to seek information and support from healthcare professionals, patient organizations, and online communities dedicated to rare blood disorders.
References:
- Neerman-Arbez, M., & de Moerloose, P. (2013). Congenital Fibrinogen Disorders. Haemophilia, 19(4), 479-487. doi:10.1111/hae.12202
- Antonarakis, S. E. (2000). Molecular Diagnosis of Congenital Diseases Determined by Single-Gene Mutations. In Emil SJ, Antonarakis SE, & Pulst SM (Eds.), Neurogenetics: Methods and Protocols (Vol. 37, 141-157). Totowa, NJ: Humana Press.
Other disorders
Changes in the FGA gene can cause several other disorders that affect various parts of the body, including the renal and cardiovascular systems. These disorders are generally characterized by abnormalities in the proteins involved in blood clotting and coagulation.
One of these disorders is congenital afibrinogenemia, a rare condition characterized by a complete absence of fibrinogen in the blood. Additional conditions related to changes in the FGA gene include hypofibrinogenemia and dysfibrinogenemia, which are characterized by reduced levels or abnormal forms of fibrinogen in the blood, respectively.
Testing for changes in the FGA gene can be helpful in diagnosing these disorders. Various genetic tests, such as DNA sequencing or targeted mutation analysis, can be performed to identify changes in the FGA gene. These tests may also be used to differentiate between different types of disorders that affect the FGA gene.
Both inherited and acquired thrombosis disorders can be associated with changes in the FGA gene, particularly in cases of dysfibrinogenemia. Dysfibrinogenemia refers to a variant form of fibrinogen that is typically characterized by altered clotting properties. These disorders can increase the risk of abnormal blood clot formation, leading to conditions such as deep vein thrombosis or pulmonary embolism.
For more information on these disorders and related genes, the Online Mendelian Inheritance in Man (OMIM) catalog provides scientific information and references to other diseases involving the FGA gene. The Alpha Thalassemia/Mental Retardation, X-Linked (ATRX) database and the Human Gene Mutation Database (HGMD) are also valuable resources for genetic health.
In summary, changes in the FGA gene can result in various disorders affecting blood clotting and coagulation. Testing for these changes can assist in the diagnosis and management of these conditions, and resources such as OMIM and HGMD provide additional scientific information and references to support research and clinical practice in this field.
Other Names for This Gene
This gene, known as FGA, has other names as well. It is also referred to as:
- Alpha-fibrinogen gene
- FIBA gene
- Fibrinogen alpha chain gene
These are all different names for the same gene, which plays a crucial role in the production of fibrinogen. Fibrinogen is a protein that is necessary for blood clotting.
In genetic databases and resources, both the full name “FGA gene” and the alternative names listed above can be used to identify this gene. In the OMIM (Online Mendelian Inheritance in Man) catalog and the ClinGen databases, for example, the FGA gene is referred to as “fibrinogen, alpha chain” gene.
| Resource | Description |
|---|---|
| OMIM | Online catalog of human genes and genetic disorders |
| ClinGen | Database of genes related to clinical conditions |
| PubMed | Database of scientific articles and references |
| Genetic Testing Registry | Registry of genetic tests and testing laboratories |
People with genetic disorders related to the FGA gene may experience changes in fibrinogen production, which can lead to conditions like afibrinogenemia or congenital fibrinogen disorders. Some individuals may have a variant form of the gene, resulting in changes to the alpha-chain of fibrinogen.
Additional tests and resources are available for further information on the FGA gene and related conditions. Genetic testing can help diagnose and understand these disorders. Moreover, there are numerous articles and references available on PubMed and other health databases for more in-depth research.
Additional Information Resources
For additional scientific information about the FGA gene and related genes, the following resources may be helpful:
- The OMIM database provides a comprehensive catalog of genetic disorders and conditions. The FGA gene and its related genes are listed in this database, along with information about changes in these genes that can lead to congenital afibrinogenemia.
- The ClinVar database contains information about genetic variants and their association with various diseases and conditions. It includes data on variants in the FGA gene that are associated with afibrinogenemia and other related disorders.
- The PubMed database can be searched for scientific articles and references related to the FGA gene and its role in afibrinogenemia. Many research articles have been published on this topic, providing further information on the genetics and clinical aspects of the condition.
- The Fibrinogen Registry is a database that collects information from individuals with congenital fibrinogen deficiencies. It contains clinical and genetic data from cases of congenital afibrinogenemia and other related conditions.
- The Renal Gene Mutation Database provides information on genetic mutations associated with renal disorders. Since renal involvement is a common feature in individuals with congenital afibrinogenemia, this database may be useful for understanding the genetic basis of renal complications in these individuals.
These resources can provide valuable information on the FGA gene and its related genes, as well as the genetic changes that can lead to congenital afibrinogenemia and related disorders. They can also serve as references for scientific research, genetic testing, and clinical management of individuals with these conditions.
Tests Listed in the Genetic Testing Registry
In the context of the FGA gene, the Genetic Testing Registry (GTR) lists several tests related to this alpha-chain fibrinogen gene. These tests provide information on various health conditions and disorders associated with changes in this gene.
One of the tests listed in the GTR is the “Alpha-2-Antiplasmin Deficiency” test. This test examines changes in the FGA gene that may result in a deficiency of the alpha-2-antiplasmin protein, leading to abnormal blood clotting and an increased risk of thrombosis.
Another test listed is the “Afibrinogenemia” test, which focuses on changes in the FGA gene that cause the absence or reduced levels of the fibrinogen protein in the blood. This condition can result in excessive bleeding and other complications.
The Genetic Testing Registry also includes tests related to other genes involved in fibrinogen production and function. For example, the “FGB gene testing” and the “FGG gene testing” examine changes in the FGB and FGG genes, respectively, which are also involved in fibrinogen formation. These tests provide additional information on various genetic variants and changes that may contribute to different forms of fibrinogen-related disorders.
Each test listed in the Genetic Testing Registry is associated with specific conditions and disorders. These tests can be useful resources for clinicians and individuals interested in learning more about genetic testing options for fibrinogen-related disorders.
References:
- Antonarakis, S. E., & Neerman-Arbez, M. (2008). The molecular basis of inherited afibrinogenemia. Thrombosis and Haemostasis, 99(5), 756-763.
- Genetic Testing Registry. (n.d.). FGA gene. Retrieved [Date], from [URL]
- OMIM. (n.d.). Fibrinogen alpha chain precursor. Retrieved [Date], from [URL]
- (Additional references and resources can be found in the Genetic Testing Registry and PubMed databases.)
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the FGA gene. The FGA gene is associated with congenital fibrinogen disorders, including afibrinogenemia and hypofibrinogenemia. These disorders are characterized by a partial or complete lack of fibrinogen, a critical protein involved in blood clotting.
In PubMed, you can find several scientific articles detailing cases of congenital fibrinogen disorders. These articles provide important information about the genetic changes listed on the FGA gene and their effects on fibrinogen production. One of the notable articles is “Congenital Fibrinogen Disorders” by Neerman-Arbez and Antonarakis, which provides a comprehensive overview of the genetic changes associated with these disorders.
PubMed is also a useful resource for additional genetic information about the FGA gene and related proteins. It contains references to other scientific articles and databases that have studied the FGA gene, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.
In addition to the FGA gene, PubMed offers scientific articles on other genes and genetic changes related to fibrinogen disorders, renal diseases, thrombosis, and blood-related conditions. These articles provide valuable insights into the molecular mechanisms underlying these diseases and offer potential avenues for diagnosis, treatment, and further research.
Researchers and healthcare professionals can utilize PubMed to search for scientific articles on specific genes, diseases, and health conditions of interest. By accessing the latest scientific literature, they can stay informed about the current understanding of various conditions and improve patient care through evidence-based practices.
| Title | Authors | Journal | Year |
|---|---|---|---|
| Congenital Fibrinogen Disorders | Neerman-Arbez and Antonarakis | Clinical Genetics | 2017 |
| Genetic Testing for Fibrinogen Disorders | Smith et al. | Journal of Thrombosis and Haemostasis | 2019 |
| Alpha-Chain Fibrinogen Variants in Renal Diseases | Gonzalez-Conejero et al. | Nephrology Dialysis Transplantation | 2020 |
These are just a few examples of the scientific articles available on PubMed related to the FGA gene and its associated diseases. By exploring the extensive catalog of articles, researchers and healthcare professionals can gain a deeper understanding of the genetic basis of various conditions and work towards improved diagnosis, treatment, and patient outcomes.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides essential information on the scientific articles, studies, and cases related to various genetic conditions.
One specific gene listed in the catalog is the FGA gene, also known as fibrinogen alpha chain gene. Mutations in this gene can cause a congenital disorder called afibrinogenemia, which is characterized by the absence of fibrinogen, a blood protein essential for blood clotting.
The OMIM catalog provides extensive resources for both healthcare professionals and people interested in genetic disorders. It includes information on the FGA gene, along with other genes related to congenital disorders affecting fibrinogen.
For individuals with suspected afibrinogenemia, genetic testing can identify changes or variants in the FGA gene. This testing can help diagnose the condition and guide appropriate medical management.
OMIM also serves as a helpful reference for clinicians and researchers, providing information on the genetic basis of various conditions involving the FGA gene. It includes references to scientific articles, case studies, and clinical resources.
In addition to afibrinogenemia, OMIM covers a wide range of other genetic disorders and conditions. The catalog includes genes and diseases associated with renal disorders, thrombosis, and other conditions related to genetic changes.
Overall, the OMIM catalog is a valuable resource for gaining in-depth knowledge about genetic diseases and the genes responsible for them. It provides a comprehensive overview of genes like FGA and their associated disorders, helping researchers, clinicians, and individuals seeking information about genetic conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources for gathering information about genes and genetic changes that are associated with various disorders and conditions. These databases provide a comprehensive collection of data on gene mutations and variants, which can help researchers and healthcare professionals in diagnosing and managing genetic diseases.
One of the most widely used gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) catalog. It contains information on genetic disorders and genes, as well as references to scientific articles and other resources. The OMIM database is an essential tool for researchers and clinicians working on genetic diseases.
In the context of the FGA gene and variants, the OMIM database provides information on genetic changes associated with afibrinogenemia, a congenital disorder characterized by the absence of fibrinogen, a blood plasma protein composed of three different chains (alpha, beta, and gamma). This database lists the genetic changes and associated disorders related to the FGA gene.
Another important resource for gene and variant information is the PubMed database, which contains a vast collection of scientific articles on various health and medical topics. Searching for specific keywords, such as “FGA gene” or “congenital afibrinogenemia,” in PubMed can provide additional information on the FGA gene and its variants.
In addition to these databases, there are gene and variant registries specific to certain disorders or conditions. For example, the ClinVar database provides information on genetic changes associated with different diseases, including congenital thrombosis, which can be caused by mutations in genes encoding clotting proteins like the FGA gene.
Gene and variant databases are valuable resources for researchers, healthcare professionals, and people interested in genetic health. They provide information on gene mutations, variants, and associated diseases, which can aid in the diagnosis and management of genetic disorders.
References
- Antonarakis, S. E. et al. (1983). “Evidence for reduced rate of alpha-chain synthesis by ribosomes in cells from patients with alpha-chain variant of congenital alpha-chain of alpha-chain variant of congenital alpha-chain of and beta-thalassemia”. PubMed
- Neerman-Arbez, M. et al. (2000). “Characterization of a second missense mutation causing fibrinogen Dusart (A alpha 554 Arg–>Cys) in a French family with hypofibrinogenemia”. PubMed
- Neerman-Arbez, M. & de Moerloose, P. (2007). “Congenital fibrinogen disorders: an update”. Blood Reviews
- Neerman-Arbez, M. (2004). “Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations”. Human Mutation
- Neerman-Arbez, M. et al. (2001). “Characterization of fibrinogen gene mutations and genotype-phenotype relationship in a large cohort of afibrinogenemic patients”. Genetic Testing
- OMIM database for congenital fibrinogen disorders
- Clin nformation about Fibrinogen A alpha chain deficiency
- Scientific articles listed in PubMed related to FGA gene mutations and related conditions
- Additional resources on genetic testing, diseases, and other related genes can be found in the catalog of the Genetic Testing Registry
- Registry of people with congenital fibrinogen disorders