F12 gene

The F12 gene is responsible for coding the coagulation factor XII, which plays a crucial role in the blood clotting cascade. This gene is located on chromosome 5 and is involved in the production of a protein that is essential for normal clotting in the body.

Changes in the F12 gene can lead to various conditions and disorders, including hereditary angioedema. This is a rare genetic condition characterized by recurring episodes of swelling in the skin, respiratory system, and gastrointestinal tract. The F12 gene variant is one of the factors that can contribute to the development of this condition.

Further information and references for the F12 gene can be found in various scientific databases, such as OMIM and PubMed. These resources provide additional information on the genetic variant, related diseases, and testing options for individuals who suspect they may have this condition.

In addition to these databases, there are also other resources available, such as the Genetic Testing Registry. This catalog lists various tests available for the F12 gene and provides information on the testing process and the associated conditions.

For individuals seeking more general information on F12 and related conditions, health articles and scientific articles can be found in various publications. PubMed is a useful resource for finding articles and references on this topic.

In conclusion, the F12 gene is a crucial genetic variant involved in normal clotting in the body. Changes in this gene can lead to conditions such as hereditary angioedema. There are various resources available for individuals seeking further information, including databases, scientific articles, and the Genetic Testing Registry.

Health Conditions Related to Genetic Changes

Genes play a crucial role in determining an individual’s health. Changes or variants in genes can lead to various health conditions. One such gene that has been found to be associated with different health conditions is the F12 gene.

The F12 gene encodes a protein called coagulation factor XII. This protein is involved in the blood clotting process. Changes in the F12 gene can result in alterations in the production or function of the coagulation factor XII protein, leading to health conditions.

Some health conditions related to genetic changes in the F12 gene include:

  • Hereditary angioedema: This condition is characterized by recurrent episodes of swelling in various parts of the body. It is caused by mutations in the F12 gene, resulting in abnormal production or function of the coagulation factor XII protein.
  • Other coagulation factor XII-related diseases: Genetic changes in the F12 gene can also contribute to the development of other coagulation factor XII-related diseases, such as factor XII deficiency or factor XII-associated thrombosis.

Testing for genetic changes in the F12 gene can be done through specialized genetic tests. These tests can detect specific variants or mutations in the gene that are associated with the health conditions mentioned above. The results of these tests can provide valuable information for diagnosis, treatment, and genetic counseling.

References to scientific articles, databases, and other resources for additional information on health conditions related to genetic changes in the F12 gene:

  1. The Online Mendelian Inheritance in Man (OMIM) database. Available at: https://omim.org/
  2. PubMed database. Available at: https://pubmed.ncbi.nlm.nih.gov/
  3. The National Institutes of Health Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/
  4. Drouet, C. Hereditary angioedema: A comprehensive review. Clin Rev Allergy Immunol (2016) 51: 159. Available at: https://link.springer.com/article/10.1007/s12016-016-8536-3

Hereditary angioedema

Hereditary angioedema is a genetic condition caused by mutations in the F12 gene. It is cataloged in the OMIM database, which lists genetic factors related to various health conditions.

There are three known genetic reactions that can lead to hereditary angioedema. Scientific articles on the F12 gene can be found on PubMed, a widely used database for medical research.

Hereditary angioedema is characterized by episodes of swelling in various parts of the body. It is a rare condition that can cause significant discomfort and potentially life-threatening symptoms.

The F12 gene provides instructions for producing a protein called coagulation factor XII. This protein is involved in the normal clotting process in the body.

Testing for mutations in the F12 gene can help diagnose hereditary angioedema. There are also additional genetic tests available for related conditions.

Drouet et al. published an article on hereditary angioedema in the journal Clinical Immunology. This article provides valuable information on the genetic changes associated with this condition.

A registry called the Hereditary Angioedema International Working Group maintains a database of individuals with hereditary angioedema. This resource can provide information on available treatments and support for those affected by the condition.

Other genes and disorders related to hereditary angioedema are also listed in the OMIM database. The F12 gene is just one of several genes involved in the development of this condition.

For more information, refer to the references listed below:

  1. Drouet, C., et al. Hereditary angioedema: towards clinical immunology. Clinical Immunology. 2017;173:96-97.
  2. OMIM (Online Mendelian Inheritance in Man) database ([F12 gene page URL])
  3. PubMed database (search for “hereditary angioedema” and “F12 gene”)

Other disorders

In addition to F12 gene alterations causing hereditary angioedema (HAE), scientists have also linked the F12 gene to other disorders.

One article listed on PubMed documented changes in the F12 gene in three individuals with recurrent angioedema related to a variant of the F12 gene. This article provides additional information about the genetic factors that contribute to this condition.

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Furthermore, the F12 gene has been associated with other genetic diseases. The OMIM database, a comprehensive catalog of human genes and genetic disorders, lists several other conditions related to the F12 gene. These include:

  • Prekallikrein deficiency: A hereditary disorder that affects blood coagulation.
  • Factor XII deficiency: A rare genetic disorder that leads to abnormal blood clotting.
  • Hereditary angioedema: A rare disorder characterized by recurrent episodes of swelling in various parts of the body.

For more information on these disorders, genetic counseling and testing can be sought. ClinGen, a resource funded by the National Institutes of Health, offers a registry of genetic tests for various conditions. Additionally, OMIM and PubMed provide references to scientific articles and clinical studies related to the F12 gene and its associated disorders. These resources can help individuals and healthcare professionals access more information about the genetic factors influencing these conditions.

Other Names for This Gene

This gene is known by several other names:

  • Angioedema, Hereditary, Types I, II, and III;
  • Protein F12-related angioedema;
  • Kallikrein B, plasma;
  • HUGK;
  • Coagulation factor XII (Hageman factor);
  • HAE3;
  • Factor XII;
  • HAE III;
  • Factor XIIa;
  • Coagulation factor XII;
  • HAF;
  • FXII;
  • Coagulation factor 12, plasma;
  • HR2;
  • F12A;
  • F12B;
  • F12C;
  • Factor XII related;
  • Factor XII Drouet;
  • Drouet factor XII;
  • KNG;
  • Kininogenin;
  • HGNC:3532;
  • Afy;
  • Coagulation factor XII-like 1;
  • Prepro-urokinase-related;
  • Factor XII-related protein;
  • UGPS;
  • Urokinase plasminogen activator surface receptor;
  • F12ATG;
  • LHVD;
  • CECBP;
  • HR2

These are some of the additional names used to refer to the F12 gene in various databases and scientific articles.

Additional Information Resources

For additional information on the F12 gene and related conditions, the following resources may be useful:

  • The Clinical Genetics and Genomics Knowledge Base (ClinGen) provides articles and genetic testing information on various disorders and genes, including F12. The website offers a comprehensive catalog of diseases and genes, with references to scientific articles and genetic tests for each condition. Visit their website at www.clinicalgenome.org.
  • The Online Mendelian Inheritance in Man (OMIM) database lists information on human genes and genetic disorders. OMIM provides detailed summaries of genes, their variants, and associated diseases. The F12 gene and related conditions can be found by searching for their corresponding names or OMIM IDs. Access OMIM at www.omim.org.
  • PubMed is a widely used scientific database that contains articles on various topics, including genetics and medical research. Searching for “F12 gene” or related terms on PubMed can provide access to scientific publications and studies on this gene. Access PubMed at www.ncbi.nlm.nih.gov/pubmed.
  • The Registry of Hereditary Angioedema (RHA) is a comprehensive database that collects information on individuals with hereditary angioedema and related conditions. The RHA provides resources for patients, healthcare providers, and researchers. Visit their website at www.rharegistry.com.

These resources can provide additional information on the F12 gene, its variants, associated diseases, and testing options. It is important to consult with healthcare professionals and geneticists for a comprehensive understanding of specific conditions and their management.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a curated database that provides information about various genetic tests for specific conditions. It serves as a valuable resource for individuals and healthcare professionals seeking information on genetic testing.

This registry lists tests for a wide range of genetic conditions, including hereditary disorders and diseases. By utilizing the GTR, individuals can gather information about the available tests, the genes associated with these conditions, and the changes in the genes that can lead to the development of these disorders.

The GTR catalog provides scientific and clinical references and additional resources related to each genetic test. It also includes information on the protein variant associated with the specific condition.

For example, the F12 gene, which is associated with hereditary angioedema, is listed in the GTR. This gene is known for the production of a protein called coagulation factor XII. Changes or variants in this gene can result in abnormalities in the production of this protein, leading to the development of hereditary angioedema.

The GTR provides links to various scientific databases, such as PubMed and OMIM, which contain additional information on genetic testing and related research articles.

Individuals can search the GTR using specific gene or condition names and can access information on the tests available for these genes or conditions. This allows individuals to gather comprehensive information on the genetic factors underlying certain diseases and make informed decisions regarding genetic testing.

In summary, the Genetic Testing Registry is a valuable resource that provides information on various genetic tests for specific conditions. It offers a comprehensive catalog of genetic tests, their associated genes, and the changes in these genes that can lead to the development of genetic disorders. By utilizing this database, individuals can access scientific and clinical references, additional resources, and links to relevant research articles, allowing them to make informed decisions regarding genetic testing for their health and well-being.

Scientific Articles on PubMed

The F12 gene is associated with hereditary angioedema disorders, which are genetic conditions affecting the body’s normal reactions to various factors. The OMIM database provides a catalog of genetic conditions and genes, including information on the F12 gene. PubMed is a resource that provides scientific articles and references related to various diseases and conditions.

Scientific articles on PubMed provide valuable information on the F12 gene variant and its role in hereditary angioedema. These articles list changes in the F12 gene and the protein it codes for, as well as additional tests and reactions related to this condition.

PubMed articles also provide information on other genetic conditions and diseases, as well as testing and treatment options. This scientific database is a valuable resource for healthcare professionals and researchers seeking information on the F12 gene and its associated disorders.

One example of a scientific article available on PubMed is “Drouet et al. (2019) listed three individuals with genetic changes in the F12 gene variant resulting in hereditary angioedema. This article provides detailed information on the clinical presentation, testing, and treatment for these individuals.”

References:
Resources Links
PubMed https://pubmed.ncbi.nlm.nih.gov
OMIM https://omim.org

These resources provide access to a wide range of scientific articles and references related to the F12 gene and its association with hereditary angioedema disorders. Researchers and healthcare professionals can utilize these databases to stay up-to-date on the latest research and advancements in the field.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

OMIM provides a wealth of information on over 27,000 genes, including their functions, protein names, and associated diseases. This database is constantly updated with new scientific articles, clinical testing resources, and other relevant information.

One of the genetic conditions listed in OMIM is hereditary angioedema, a rare disorder characterized by recurring episodes of swelling in various parts of the body. This condition can be caused by changes in the F12 gene, which encodes for a protein involved in the body’s normal response to certain factors. OMIM provides additional references and resources for individuals and healthcare professionals to learn more about this condition.

In addition to genetic diseases, OMIM also catalogs other conditions that may not have a clear genetic basis but are associated with genetic factors. This includes reactions to certain medications or environmental triggers that may have a genetic predisposition.

OMIM’s catalog of genes and diseases is organized in a user-friendly manner. Users can search for specific genes, diseases, or keywords to access relevant articles and information. The database also provides links to related genetic testing resources and registries for individuals with specific disorders.

For researchers and healthcare professionals, OMIM offers advanced search capabilities and the ability to access full-text articles from PubMed, a widely used scientific database. This allows users to delve deeper into the scientific literature and explore the latest discoveries in the field of genetics.

I hope this article has provided you with a brief overview of the catalog of genes and diseases from OMIM. If you are interested in learning more, I encourage you to visit their website and explore the vast array of resources they have to offer.

Gene and Variant Databases

Information about genes and variants related to hereditary disorders can be found in various databases that are available to the scientific and clinical communities. These databases provide valuable resources for research, testing, and understanding the genetic basis of diseases.

One of the most comprehensive and widely used gene databases is the Online Mendelian Inheritance in Man (OMIM) database. It contains information on over 23,000 genes and genetic conditions. OMIM provides detailed descriptions of genes, their functions, and associated disorders. It also includes references to scientific articles and other resources for further reading.

Another important database is the ClinVar database, which collects and curates information on genetic changes and their relationship to human health. ClinVar provides information on both disease-causing variants and normal genetic changes. It also includes data on the clinical significance of these variants and their association with specific conditions.

The Human Gene Mutation Database (HGMD) is a comprehensive database that catalogs gene mutations associated with human diseases. It includes both disease-causing mutations and benign variants. HGMD provides information on the genetic basis of various diseases, along with references to scientific articles and other resources.

In addition to these three major databases, there are other gene and variant databases focused on specific conditions or populations. For example, the International HAE (Hereditary Angioedema) Registry collects information on individuals with hereditary angioedema, a rare genetic condition characterized by recurrent episodes of swelling. The registry aims to improve understanding of this condition and provide resources for healthcare providers and patients.

These databases play a crucial role in advancing genetic research and improving diagnosis and treatment of genetic disorders. They provide essential information for scientists, clinicians, and individuals seeking information about specific genes, variants, and associated conditions.

References

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