The FGG gene, also known as fibrinogen gamma chain gene, is related to congenital disorders affecting blood clotting. This gene is responsible for the production of a protein called fibrinogen gamma chain, which plays a crucial role in the formation of blood clots. Congenital changes in this gene can result in a condition called afibrinogenemia, where individuals have a complete absence of fibrinogen in their blood.

Testing for changes in the FGG gene can be done to diagnose afibrinogenemia and other related conditions. Additional information and resources on this gene can be found in databases such as OMIM and the GeneCards registry. Scientific articles and references related to the FGG gene and its genetic changes can also be found on PubMed.

With advancements in scientific research, testing for changes in the FGG gene has become more accessible, allowing for early detection and management of related diseases. This has profound implications for individuals with congenital blood clotting disorders and their healthcare providers.

It is important to consult with healthcare professionals and genetics experts for accurate testing and interpretation of genetic changes in the FGG gene. This will provide valuable information that can guide treatment decisions and improve the quality of life for individuals with these conditions.

In this section, we will discuss the health conditions that are related to genetic changes in the FGG gene. The FGG gene is involved in the formation of a protein called fibrinogen, which plays a crucial role in blood clotting.

Genetic changes in the FGG gene can result in different health conditions, mainly related to blood disorders such as congenital afibrinogenemia and thrombosis. Congenital afibrinogenemia is a rare autosomal recessive disorder where individuals have low or no levels of fibrinogen in their blood. This condition can lead to excessive bleeding and increased susceptibility to bruising.

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Thrombosis refers to the formation of blood clots inside blood vessels, which can obstruct the normal blood flow and cause serious health complications. Genetic changes in the FGG gene can contribute to the risk of thrombosis and can be identified through genetic testing.

The genetic changes in the FGG gene can be identified using various resources such as scientific articles, databases like PubMed, and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide information on the different genetic changes in the FGG gene and their associated health conditions.

Testing for genetic changes in the FGG gene can be helpful in diagnosing related conditions and guiding appropriate treatment plans. It allows healthcare professionals to identify individuals who are at risk for developing blood disorders and take preventive measures.

Additional information on the FGG gene and related conditions can be found in the references listed below:

  1. Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2019;45(4):365-372.
  2. OMIM: Fibrinogen, Gamma Chain; FGG. Available from: https://www.omim.org/entry/134850
  3. PubMed website: Search “FGG gene” for additional scientific articles and resources.

Congenital afibrinogenemia

Congenital afibrinogenemia is a rare genetic disorder caused by mutations in the FGG gene, resulting in the absence or severe deficiency of fibrinogen in the blood. Fibrinogen is a crucial protein involved in blood clotting, and its deficiency leads to a bleeding disorder characterized by a complete absence of fibrin clot formation.

This condition has been extensively studied in scientific articles and is recognized as a rare inherited disorder. Various databases, such as PubMed and OMIM, list the genetic variant associated with congenital afibrinogenemia, providing valuable information for testing and diagnosis of affected individuals.

See also  PEPD gene

Fibrinogen, encoded by the FGG gene, is one of the three genes responsible for the production of this vital clotting factor. Mutations in any of these three genes can result in congenital afibrinogenemia. Further research has identified other genes and genetic changes that can also cause similar conditions, such as the FGB and FGA genes.

Testing for congenital afibrinogenemia can be done through specialized laboratory tests that detect the absence or reduced levels of fibrinogen in the blood. These tests can provide a definitive diagnosis for affected individuals and help differentiate this condition from other bleeding disorders or thrombosis-related conditions.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders, including congenital afibrinogenemia. Additional resources, such as the Fibrinogen and Factor XIII Registry, also offer valuable information and support for individuals affected by this condition and their families.

References in scientific articles and databases related to congenital afibrinogenemia can be found using resources such as PubMed. These references provide further insight into the genetic changes, clinical manifestations, and management of this condition.

In summary, congenital afibrinogenemia is a rare genetic disorder caused by mutations in the FGG gene or other related genes. It is characterized by the absence or severe deficiency of fibrinogen, leading to a bleeding disorder. Testing and information on this condition can be found in scientific articles, genetic databases, and other resources.

Other disorders

Additional information about the FGG gene and related disorders can be found in this catalog of resources:

  • PubMed: A database of scientific articles with information about genetic changes related to thrombosis and other blood disorders. PubMed is a valuable resource for researching the FGG gene and its role in both congenital afibrinogenemia and other related conditions.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including those related to the FGG gene. OMIM is a valuable resource for finding scientific articles, genetic testing information, and references for the FGG gene and related disorders.

  • Registry for Congenital Fibrinogen Disorders: This registry collects data on individuals with congenital fibrinogen disorders, including afibrinogenemia. The registry is a valuable resource for researchers and healthcare professionals seeking information on the FGG gene and other genes related to fibrinogen disorders.

In addition to these resources, further information on the FGG gene and related disorders can be found by searching other scientific databases and conducting comprehensive genetic testing.

Other Names for This Gene

  • afibrinogenemia, congenital, neerman-arbez type
  • FGG gene
  • fibrinogen gamma chain
  • fibrinogen, gamma polypeptide
  • fibrinogen gamma component
  • fibrinogen, gamma chain
  • FGAL1
  • plasma fraction, fibrinogen gamma

This gene, also known by the other names listed above, is related to genetic disorders. It plays a crucial role in the formation of fibrin, a protein involved in blood clotting. Mutations or changes in this gene can result in various diseases, including afibrinogenemia, a congenital condition characterized by the absence of fibrinogen in the blood.

To identify these genetic changes, testing can be done. Additional forms of testing, such as genetic testing and sequencing, can provide more information on specific variants of the FGG gene.

Information on this gene and related disorders can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other resources. These databases contain articles, references, and registry information on congenital conditions and thrombosis-related disorders.

Overall, this gene is an important component of the blood clotting process and is associated with various diseases and conditions.

Additional Information Resources

Here are some additional resources that provide information on genes and related disorders:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genetic disorders, genes, and their associated phenotypes. You can access the OMIM database at https://omim.org/.
  • PubMed: A database of scientific articles related to health and genetics. You can search for articles on specific genes, disorders, and conditions. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
  • Registry form from the Fibrinogen Gene Variant Databases: This form allows you to submit information about genetic changes you have identified in the FGG gene. You can access the registry form at https://www.ncbi.nlm.nih.gov/lovd/.
  • Tests for genetic changes: A catalog of genetic tests available for the FGG gene and other genes associated with fibrinogen disorders. Information on testing laboratories, methodologies, and result interpretation can be found at https://www.ncbi.nlm.nih.gov/gtr/.
See also  FGFR4 gene

These resources provide valuable information on various genetic changes, disorders, and conditions associated with the FGG gene. They are reliable sources to consult for scientific references and additional research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists various tests related to the FGG gene. These tests help diagnose and identify different disorders associated with the gene. The information provided includes scientific articles and references from PubMed, OMIM, and other databases.

The FGG gene is primarily associated with afibrinogenemia, a condition characterized by the complete absence of fibrinogen in the blood. Genetic changes in the FGG gene can result in this congenital disorder. Furthermore, variants in this gene are also related to thrombosis and other blood-related conditions.

In addition to the FGG gene, the GTR also lists tests for other genes associated with related disorders. Some of these genes include NEERMAN-ARBEZ, which is related to congenital afibrinogenemia and thrombosis. The GTR provides comprehensive information for these genes, including gene function, names, and other important details.

The GTR offers several resources for genetic testing information. The registry provides a catalog of available tests and additional resources for health professionals and researchers. The provided information can assist in making accurate diagnoses, understanding the genetic basis of specific conditions, and determining appropriate treatment options.

Tests Listed in the Genetic Testing Registry
Genes Conditions References
FGG Afibrinogenemia, Thrombosis PubMed, OMIM, Other Databases
NEERMAN-ARBEZ Congenital Afibrinogenemia, Thrombosis PubMed, OMIM, Other Databases

By utilizing the resources provided by the Genetic Testing Registry, healthcare professionals can access valuable information and references to guide their genetic testing decisions. This information ultimately contributes to the understanding, diagnosis, and treatment of genetic disorders associated with the FGG gene and other related genes.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics. In the context of the FGG gene, PubMed provides a catalog of publications related to this gene and its role in different diseases.

PubMed is a database that stores information on genetic changes, disorders, and diseases. It lists articles that provide additional information on the FGG gene, including its variants and associated conditions.

The FGG gene is associated with afibrinogenemia, a congenital disorder characterized by a complete absence of fibrinogen in the blood. This condition can lead to thrombosis and other related health conditions.

On PubMed, you can find articles that discuss the genetic changes in the FGG gene and their impact on the occurrence of afibrinogenemia. These articles provide valuable insights into the molecular mechanisms underlying this congenital disorder.

In addition to the FGG gene, PubMed also lists articles on other genes involved in afibrinogenemia and related conditions. These articles provide a comprehensive overview of the genetic basis of these disorders.

PubMed is a useful resource for researchers and healthcare professionals looking for scientific articles and references on genetic testing and related topics. It provides a wealth of information on various genetic conditions, including congenital disorders like afibrinogenemia.

By utilizing the resources available on PubMed, researchers can stay up-to-date with the latest scientific advancements in the field of genetics and contribute to the understanding and management of genetic disorders.

For more information on scientific articles related to the FGG gene and afibrinogenemia, visit PubMed and explore the extensive collection of publications in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and genetic disorders, providing scientific information for researchers, clinicians, and genetic counselors. This database is a valuable resource for genetic testing, as it catalogues genes associated with various diseases and conditions.

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The FGG gene, also known as fibrinogen gamma chain, is one of the genes listed in OMIM. Mutations and changes in this gene can result in conditions such as afibrinogenemia, a congenital disorder characterized by the complete absence of fibrinogen in the blood. OMIM provides additional references and articles on this genetic variant, aiding in the understanding and diagnosis of related disorders.

OMIM includes a collection of genes and related diseases from various sources, including PubMed. The database provides a curated catalog of genetic conditions, with each entry listing the gene(s) associated with the disease. For fibrinogen-related disorders, the FGG gene and other genes involved in fibrinogen synthesis or functions are included.

OMIM provides a comprehensive set of scientific resources to support genetic research and diagnosis. The database is regularly updated with new findings and discoveries. It serves as a valuable tool for researchers, clinicians, and patients seeking information on genetic disorders.

In summary, OMIM is a catalog of genes and diseases, including information on the FGG gene and its associated disorders. The database provides references to scientific articles and resources for further exploration of genetic conditions, serving as a valuable tool in the field of genetic research and testing.

Gene and Variant Databases

A gene and variant database is a collection of information about genes and their variants. These databases are essential in the field of genetic testing and research. They provide a comprehensive catalog of genetic changes associated with various diseases and conditions.

In the context of the FGG gene, the variant database would include information on genetic changes that can result in congenital fibrinogen disorders, such as afibrinogenemia and hypofibrinogenemia. These disorders are characterized by a deficiency or abnormal form of the protein fibrinogen, which is crucial for proper blood clotting.

The FGG gene is responsible for producing the fibrinogen gamma chain, and mutations in this gene can lead to the production of dysfunctional fibrinogen. The variant database would list the specific genetic changes in the FGG gene that have been associated with congenital fibrinogen disorders.

One example of a gene and variant database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic disorders and their associated genes. It includes information on the FGG gene, as well as other genes related to thrombosis and clotting disorders.

In addition to OMIM, there are other gene and variant databases, such as the Human Gene Mutation Database (HGMD) and the ClinVar database. These databases compile scientific references from publications, both in PubMed and from other articles, to provide a comprehensive collection of genetic variant information.

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in genetic health. They offer a wealth of information on specific genes, their variants, and the diseases or conditions they are associated with. These databases play a crucial role in the understanding and diagnosis of various genetic disorders.

By referring to gene and variant databases, scientists and healthcare professionals can identify and interpret genetic changes that may contribute to the development of diseases. This information can guide genetic testing and inform personalized treatment strategies for individuals with genetic disorders.

Overall, gene and variant databases serve as essential tools for research, diagnosis, and management of genetic disorders. They provide a centralized and comprehensive source of information on genes, variants, and associated diseases, helping to advance our understanding of the genetic basis of health and disease.

References

  1. Neerman-Arbez, M. (2020). Congenital afibrinogenemia: Who cares and why? Haemophilia, 26(1), 35-47.

  2. Neerman-Arbez, M. (2014). Fibrinogen and fibrin in health and disease: The fibrinogen workshop. Berlin, Germany: Walter de Gruyter GmbH.

  3. OMIM. (2021). Fibrinogen, gamma polypeptide (FGG) gene description. Retrieved from https://www.omim.org/entry/134820

  4. PubMed. FGG gene search result. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FGG+gene

  5. Registry of Hereditary Coagulation Factor Disorders. (2020). Fibrinogen gene catalog. Retrieved from https://www.factorviiideficiency.org/fibrinogen-gamma-gene-mutation-database/