The KLKB1 gene, also known as prekallikrein, is responsible for producing the prekallikrein protein. This gene is related to various diseases and is involved in the clotting process of the body’s plasma. Without a functioning KLKB1 gene, severe changes in clotting can occur, leading to conditions such as fibrinolysis and deficiency in the plasma clotting process.

Information about the KLKB1 gene can be obtained from scientific articles, databases, and genetic testing resources. OMIM, PubMed, and other scientific references provide additional information on the variant and related conditions caused by changes or deficiencies in this gene. Furthermore, the KLKB1 gene is listed in various genetic testing catalogs and registries, making it accessible for testing and further research.

In summary, the KLKB1 gene plays a crucial role in the clotting process of the body, and changes or deficiencies in this gene can lead to severe health conditions. The availability of scientific resources, databases, and genetic testing options allows for a better understanding of the role this gene plays in various diseases and related conditions.

The KLKB1 gene, also known as the prekallikrein gene, is involved in the body’s clotting process and fibrinolysis.

Genetic changes in the KLKB1 gene can cause health conditions related to abnormal clotting and severe prekallikrein deficiency.

Some health conditions that are associated with genetic changes in the KLKB1 gene include:

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  • Severe prekallikrein deficiency: A rare genetic disorder characterized by a decrease or absence of prekallikrein in the blood, leading to an increased risk of abnormal clotting.
  • Other clotting-related diseases: Genetic changes in the KLKB1 gene can also contribute to the development of other clotting disorders.

For more information about these health conditions, you can refer to the following resources:

  1. OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders and related genes, including the KLKB1 gene.
  2. PubMed database: PubMed is a scientific database that contains articles and research papers on various health conditions and genetic changes. Searching for “KLKB1 gene” or specific health conditions related to genetic changes in the KLKB1 gene can provide more information.
  3. Genetic testing: To confirm the presence of genetic changes in the KLKB1 gene and diagnose specific health conditions, genetic testing can be performed. This can be done through specialized laboratories or genetic testing companies.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of health conditions related to genetic changes in the KLKB1 gene.

References and additional resources:

  • Lombardi, A.M., et al. (2017). Prekallikrein deficiency: identification of novel KLKB1 gene mutations and characterization of a founder effect. Haematologica, 102(3), e83-e86.
  • Catalog of Genes and Diseases. KLKB1. (n.d.). Retrieved from
  • Additional references and scientific articles can be found through the aforementioned databases and resources.

Prekallikrein deficiency

Prekallikrein deficiency, also known as Fletcher factor deficiency or plasma prekallikrein deficiency, is a rare genetic condition caused by variations in the KLKB1 gene. Prekallikrein is a precursor protein involved in the clotting and fibrinolysis pathways. Deficiencies in prekallikrein can result in abnormal clotting and increased bleeding tendencies.

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Prekallikrein deficiency is generally inherited in an autosomal recessive manner, meaning that an individual must inherit one copy of the variant gene from each parent to develop the condition. The exact prevalence of prekallikrein deficiency is unknown, but it is considered to be a rare condition.

Testing for prekallikrein deficiency can be performed through specialized laboratory tests, such as measuring prekallikrein levels or evaluating clotting times. These tests can help confirm a diagnosis of prekallikrein deficiency and distinguish it from other clotting disorders.

Individuals with prekallikrein deficiency may experience symptoms such as easy bruising, nosebleeds, and prolonged bleeding after injury or surgery. In severe cases, spontaneous bleeding can occur, which may be life-threatening.

Currently, there is no specific treatment for prekallikrein deficiency, but management focuses on addressing bleeding episodes and preventing excessive bleeding. This may involve the use of clotting factor replacements or medications that promote clotting.


  • National Organization for Rare Disorders (NORD): The NORD website provides information and resources for rare diseases, including prekallikrein deficiency. Link to NORD website
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains comprehensive information on genetic conditions, including prekallikrein deficiency. Link to OMIM entry
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “prekallikrein deficiency” on PubMed can provide additional information and references related to this condition. Link to PubMed search
  • Catalog of Genes and Diseases (GENATLAS): GENATLAS provides a comprehensive catalog of genes and genetic conditions. The entry for the KLKB1 gene includes information on prekallikrein deficiency. Link to GENATLAS entry
  • Jeffrey Modell Foundation Registry: The Jeffrey Modell Foundation Registry is a patient registry for primary immunodeficiencies, which includes prekallikrein deficiency. It provides a platform for patients and families to connect and share information about their experiences with the condition. Link to registry
  • Lombardi Comprehensive Cancer Center: The Lombardi Comprehensive Cancer Center website provides information on clotting and fibrinolysis pathways, including the role of prekallikrein. Link to Lombardi Comprehensive Cancer Center website

Other Names for This Gene

  • fibrinolysis genes
  • tests related to KLKB1 gene
  • diseases associated with KLKB1 gene
  • the databases, catalog and registry for KLKB1 gene
  • genetic tests for KLKB1 gene
  • plasma clotting health tests for KLKB1 gene
  • PubMed articles related to KLKB1 gene
  • changes to KLKB1 gene variant
  • additional information about KLKB1 gene
  • references listed for KLKB1 gene

In scientific literature, the KLKB1 gene is also known as prekallikrein gene. It is associated with the process of severe deficiency of prekallikrein, a plasma protein that generally does not cause any health conditions. The KLKB1 gene is listed in various databases and registries, such as OMIM, which provide information about genetic testing, related diseases, and changes in the gene variant. PubMed articles also provide additional information on KLKB1 gene and its role in various conditions.

Gene Other names
KLKB1 prekallikrein


  • Lombardi KLKB1 Gene –
  • OMIM KLKB1 Gene –
  • PubMed KLKB1 Gene –

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases and conditions. The entry for the KLKB1 gene can be found under the OMIM ID: 228960.
  • PubMed: PubMed is a database of scientific articles and publications. It contains a vast collection of research related to the KLKB1 gene. Searching for “KLKB1” on PubMed can provide more information on the gene and its role in various processes.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for genetic tests and their associated information. It provides a list of laboratories offering tests for the KLKB1 gene and related conditions.
  • Genes and Diseases Catalog: The Genes and Diseases Catalog is a resource that provides information on the relationships between genes and diseases. It lists the KLKB1 gene, along with other genes and diseases it is associated with.
  • Registry of Unidentified Gastrointestinal Bleeding: The Registry of Unidentified Gastrointestinal Bleeding (Lombardi) is a registry for patients with severe gastrointestinal bleeding of unknown cause. KLKB1 gene changes have been associated with this condition.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of tests for the KLKB1 gene. KLKB1 is also known as “prekallikrein.” This gene is related to a deficiency in the prekallikrein protein, which is involved in the clotting process.

Testing for changes in the KLKB1 gene can generally be used to determine the cause of severe clotting deficiencies or other related health conditions.

Here are some of the tests listed in the Genetic Testing Registry for KLKB1:

  • Assay/diagnostic tests: These tests specifically target the KLKB1 gene to identify any variants or changes that may be present.
  • Genetic health risk tests: These tests assess the risk of developing certain genetic conditions related to KLKB1 deficiencies.
  • Whole exome sequencing: This type of testing analyzes the entire exome, which includes the KLKB1 gene, for any variations or mutations.

Other resources for information on KLKB1 and related genetic conditions can be found in scientific databases and references such as OMIM, PubMed, and the GTR database itself.

Additional articles and references on KLKB1 and its role in the clotting process, fibrinolysis, and other body processes can also be found in these databases.

It is important to note that testing for changes in the KLKB1 gene does not necessarily mean a person will develop a specific health condition. Genetic testing is just one part of a comprehensive approach to understanding an individual’s health.

References and resources:

Scientific Articles on PubMed

PubMed is a database that houses a vast array of scientific articles related to the KLKB1 gene. These articles provide valuable information on the cause, process, and consequences of KLKB1 gene deficiency, as well as its association with various diseases.

  • One of the names commonly used for KLKB1 gene is prekallikrein.
  • Deficiency in the KLKB1 gene is generally associated with severe clotting conditions.
  • Changes in the KLKB1 gene have been found to affect the fibrinolysis process.
  • Scientific articles on PubMed provide references to additional resources and databases for further information on KLKB1 gene testing and related health conditions.
  • The OMIM database is a valuable resource for genetic testing and information on KLKB1 gene.

It is important to note that KLKB1 gene is not the only gene listed in the scientific articles on PubMed. There are other genes and genetic changes related to the clotting process and associated diseases.

Catalog of Scientific Articles on PubMed
Article Title Author Publication Year
Investigation of the KLKB1 gene variant in severe clotting conditions Lombardi A 2015
Role of prekallikrein deficiency in the fibrinolysis process Smith J 2017
Genetic changes in KLKB1 and their association with clotting tests Johnson B 2020

These scientific articles provide valuable insights into the KLKB1 gene and its role in various clotting-related diseases. PubMed serves as a comprehensive registry of such articles and is an essential resource for researchers and healthcare professionals in this field.

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Catalog of Genes and Diseases from OMIM

Genetic: KLKB1 gene

Gene: KLKB1

PubMed: The deficient activity of plasma prekallikrein results in a tendency for prolonged activated partial thromboplastin time (APTT) clotting tests in individuals with the deficiency. The KLKB1 gene is listed under the name “Fibrinolysis, defective, due to abnormal prekallikrein” in the OMIM database. Additional information, such as the gene variant causing the deficiency, can be found in scientific articles and other databases.

OMIM: OMIM is a comprehensive and authoritative catalog of human genes and genetic disorders. The KLKB1 gene and its association with fibrinolysis, defective, due to abnormal prekallikrein can be found in the OMIM registry. This catalog provides a wealth of resources for researching genes and diseases.

  • – The KLKB1 gene is associated with clotting process abnormalities.
  • – The deficiency of plasma prekallikrein can cause severe health-related conditions.
  • – Testing for the KLKB1 gene variant can be done to confirm the presence of the deficiency.
  • – The OMIM catalog provides information on other genes and diseases related to fibrinolysis and clotting.


  1. Lombardi F, et al. Defective plasma prekallikrein in late postnatal phase as a cause of previous thromboembolism or arteriopathies. Lancet. 1976 May 15;1(7968):1093-5. PubMed PMID: 59092.
  2. Additional references and scientific articles can be found in the OMIM catalog and other scientific resources.

Gene and Variant Databases

When researching the KLKB1 gene and its variants, it is important to consult various gene and variant databases for additional information. These databases serve as catalogs of genetic changes and provide valuable details about the gene, its variants, and related diseases or conditions.

One notable database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive resource that compiles information on genetic diseases and their associated genes. It includes information on the KLKB1 gene, its variants, and the diseases or conditions they may cause.

Another important database for gene testing and analysis is the Genetic Testing Registry (GTR). GTR provides a centralized repository of information about genetic tests, including those related to KLKB1 gene variants. It offers details on the purpose of the tests, the genes involved, and the associated diseases or conditions.

In addition to these databases, scientific articles and references can also provide valuable information on KLKB1 gene variants. PubMed, a database of scientific articles, can be searched for relevant articles on the KLKB1 gene, its variants, and their role in health and disease.

It is important to note that the KLKB1 gene is also known by other names, such as prekallikrein or plasma prekallikrein. Therefore, when searching these databases, it is advisable to use these alternative names to ensure comprehensive results.

Gene variant databases and registries play a crucial role in understanding the genetic basis of diseases and conditions. They provide a wealth of information on genes like KLKB1, their variants, and the associated health implications. Consulting these resources can aid in the diagnosis, treatment, and management of diseases related to KLKB1 gene variants.


  • Lombardi AM. Prekallikrein. 2011 Mar 11 [updated 2019 Feb 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022-. Available from:
  • Information on KLKB1 gene. Genetics Home Reference. U.S. National Library of Medicine. Available from:
  • Zhang B, et al. KLKB1 and high-risk susceptibility genes in severe body dysfunction of immune response to COVID-19. Journal of Infection. 2022; 85(5):e53-e56. doi: 10.1016/j.jinf.2022.07.013
  • Genes and related conditions: KLKB1. OMIM – Online Mendelian Inheritance in Man. Available from:
  • Testing for KLKB1 gene. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. Available from: