Prekallikrein deficiency

Published Categorized as Genetics
Prekallikrein deficiency

Prekallikrein deficiency is a rare genetic condition that affects the body’s ability to form blood clots, leading to increased bleeding and clotting problems. It is inherited in an autosomal recessive manner, which means that both parents must carry a mutated copy of the prekallikrein gene for their child to be affected.

Scientific articles about prekallikrein deficiency are relatively rare, as it is a rare condition. However, there is still some information available about this genetic deficiency. The Online Mendelian Inheritance in Man (OMIM) database provides additional genetic information about prekallikrein deficiency, including the inheritance pattern and associated diseases. PubMed, a database of scientific articles, also contains references to studies on prekallikrein deficiency and related topics.

People with prekallikrein deficiency may experience symptoms such as easy bruising, nosebleeds, and prolonged bleeding after injury or surgery. In some cases, they may also develop blood clots that can lead to complications. The frequency of prekallikrein deficiency in the general population is not well known.

Support and advocacy resources for people with prekallikrein deficiency can be found through organizations such as the National Hemophilia Foundation and the World Federation of Hemophilia. These organizations can provide information and support to individuals and families affected by prekallikrein deficiency, as well as connect them with additional resources. The CDC’s website and the Hemophilia, von Willebrand Disease & Platelet Disorders Handbook are also helpful sources of information on this condition.

Frequency

Prekallikrein deficiency is a rare genetic condition. According to the OMIM database, there have been only a few reported cases of this deficiency. The condition is also known by other names such as Fletcher factor deficiency or plasma prekallikrein deficiency.

Due to the rarity of this condition, there is limited information available. Scientific resources such as PubMed and OMIM provide some support in learning more about this condition. However, additional research is needed to fully understand the causes and inheritance of prekallikrein deficiency.

The frequency of prekallikrein deficiency in the general population is not well-documented. The Candeo Center for Rare Diseases states that it is a rare condition, but exact numbers are not available.

Testing for prekallikrein deficiency may be done if a patient has symptoms or a family history of the condition. Genetic testing can identify mutations in the prekallikrein gene and other associated genes. However, due to the rarity of the condition, testing may not be readily available in all healthcare settings.

For more information on prekallikrein deficiency and other rare diseases, advocacy groups and support organizations can provide additional resources and support. References and articles on the topic can be found in scientific journals and medical databases. Patients and their families can consult with healthcare professionals for guidance and information on managing this condition.

In summary, due to its rarity, the frequency of prekallikrein deficiency is not well-documented. More research and information are needed to fully understand this genetic condition and its associated problems.

Causes

Prekallikrein deficiency is an inherited condition caused by mutations in the KLKB1 gene. The frequency of this condition is not well known, but it is considered to be rare.

Prekallikrein deficiency is associated with other names such as Fletcher trait, Hageman factor deficiency II, and Fitzgerald factor deficiency. More information about the genetic causes of this rare condition can be found in the OMIM database and in scientific articles indexed in PubMed.

The KLKB1 gene provides instructions for making a protein called prekallikrein. Prekallikrein is involved in the clotting process of blood. Mutations in the KLKB1 gene can result in a deficiency of prekallikrein, leading to problems with the clotting process.

Genetic testing can be done to confirm the causes of this condition. Typically, the testing is done on a blood sample. Testing for prekallikrein deficiency and other inherited clotting diseases can be done in specialized laboratories or through commercial testing resources.

For more information about the causes of prekallikrein deficiency and similar conditions, additional resources are available through advocacy organizations such as the CANDeo Patient Advocacy Center and the National Organization for Rare Disorders (NORD).

Note: The information provided above is a summary of the causes of prekallikrein deficiency. For more in-depth information, please consult scientific articles and other reliable sources.

Learn more about the gene associated with Prekallikrein deficiency

Prekallikrein deficiency, also known as Fletcher factor deficiency, is a rare genetic condition that affects the clotting process in the body. It is caused by mutations in the gene known as the prekallikrein gene.

This gene is responsible for the production of a protein called prekallikrein, which plays an important role in the clotting cascade. When this gene is mutated, it can result in reduced or absent levels of prekallikrein in the blood, leading to an increased risk of bleeding.

To learn more about the prekallikrein gene and its association with Prekallikrein deficiency, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides information about the genetic basis of various rare diseases, including Prekallikrein deficiency. You can search for the gene associated with this condition by entering “prekallikrein” in the search bar on the OMIM website.
  • Candeo: Candeo is an advocacy and support center for individuals and families affected by rare genetic conditions. They provide resources, support, and information about various genetic disorders, including Prekallikrein deficiency. You can visit their website to learn more about this condition and connect with other individuals and families affected by it.
  • PubMed: PubMed is a database of scientific articles and references. You can search for articles related to Prekallikrein deficiency and the association with the prekallikrein gene on PubMed to get more scientific information about this condition.

Additionally, genetic testing can be conducted to diagnose Prekallikrein deficiency. The testing typically involves analyzing the prekallikrein gene for mutations or variations that may be associated with the condition. If you suspect that you or your child may have Prekallikrein deficiency, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide further information.

Remember, Prekallikrein deficiency is a rare genetic condition, and additional causes of clotting problems or bleeding disorders should be ruled out by a healthcare professional during the diagnostic process.

Inheritance

The inheritance pattern of prekallikrein deficiency is typically autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to have the condition. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that their child will have prekallikrein deficiency.

See also  Mucopolysaccharidosis type VI

Prekallikrein deficiency is a rare genetic condition, and the gene associated with it is called the KLKB1 gene. Mutations in this gene are the cause of the deficiency. Inheritance of prekallikrein deficiency can also be influenced by other rare genetic causes.

More information about the genetic inheritance of prekallikrein deficiency can be found on the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of prekallikrein deficiency.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains articles about the inheritance and genetic frequency of prekallikrein deficiency.
  • The Catalog of Advocacy: The Catalog of Advocacy is a resource created by the Genetic and Rare Diseases Information Center (GARD). It provides information and support for people with rare genetic diseases, including prekallikrein deficiency.

Genetic testing can be done to confirm a diagnosis of prekallikrein deficiency. This testing involves analyzing a patient’s DNA for mutations in the KLKB1 gene. In some cases, additional genetic testing may be needed to identify other rare genetic causes of prekallikrein deficiency.

It is important for people with prekallikrein deficiency to work closely with their healthcare team to manage the condition and prevent clotting problems. Learning about the inheritance and underlying genetic causes of prekallikrein deficiency can help individuals and their families better understand the condition and its impact.

Other Names for This Condition

Prekallikrein deficiency is also called:

  • Fletcher factor deficiency
  • High molecular weight kininogen deficiency
  • Plasma prekallikrein deficiency
  • Hereditary prekallikrein deficiency
  • PK deficiency
  • HMWK deficiency
  • Fletcher trait

This condition has rare frequency and is generally associated with genetic inheritance. It is typically a rare clotting factor deficiency that causes problems with the clotting process. Prekallikrein deficiency may be congenital or acquired. Congenital prekallikrein deficiency is a genetic condition present from birth, while acquired prekallikrein deficiency results from other diseases or conditions.

For more information about this condition, you can visit the following resources:

These resources can provide more information about the condition, genes associated with it, testing for prekallikrein deficiency, patient support and advocacy organizations, and more.

Additional Information Resources

  • Catalog of Genes and Diseases: The Center for Information on Genetic Diseases (CANDeo) provides a comprehensive catalog of genes associated with rare genetic diseases, including Prekallikrein Deficiency. This resource can help you learn more about the condition and its associated genes.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides information about genetic disorders. You can find more information about Prekallikrein Deficiency, including inheritance patterns, gene names, and references to scientific articles.
  • PubMed: PubMed is a database of scientific articles. Searching for “Prekallikrein Deficiency” will provide you with more research and information about this rare condition.
  • Support and Advocacy: There are organizations and advocacy groups that provide support and resources for people with Prekallikrein Deficiency and other rare diseases. They offer information, community support, and may be able to connect you with others who are facing similar challenges.
  • Testing Centers: If you suspect that you or someone you know may have Prekallikrein Deficiency, testing can be done to confirm the diagnosis. Contact a genetic testing center or speak with a healthcare professional to learn more about the testing process and available options.
  • Learn About Clotting Process: Understanding the clotting process is important in understanding the causes and symptoms of Prekallikrein Deficiency. You can find information about clotting and related conditions from reputable medical websites and resources.

Remember to consult with your healthcare provider or a genetic counselor for more personalized and accurate information about Prekallikrein Deficiency and its implications for you or your family.

Genetic Testing Information

Genetic testing is the process of analyzing a person’s DNA to identify changes or mutations in specific genes that may be causing a genetic disorder or disease. In the case of Prekallikrein deficiency, the specific gene being examined is the KLKB1 gene.

Causes of Prekallikrein deficiency can be either genetic or acquired. Genetic abnormality of the KLKB1 gene is a rare cause of this condition. It is typically inherited in an autosomal recessive manner, which means that both copies of the gene must have mutations for the deficiency to occur. Acquired forms of Prekallikrein deficiency can also occur as a result of liver disease or certain medications.

The OMIM database is a valuable resource for more information on the genetic basis of Prekallikrein deficiency. It provides detailed scientific articles and references on the disease, including information on the associated genes, inheritance patterns, and additional resources for patient advocacy.

For more information on Prekallikrein deficiency and other rare diseases, Candeo also offers comprehensive information and resources. Its database includes articles, references, and support resources for patients and their families.

Genetic testing for Prekallikrein deficiency is generally not routine and is typically conducted on individuals who present with symptoms or have a family history of the condition. The frequency of this condition in the general population is rare, so testing is not commonly done unless there is a specific clinical indication.

Testing for Prekallikrein deficiency typically involves analyzing the KLKB1 gene for mutations or changes. This can be done through various methods, such as sequencing or targeted mutation testing.

In conclusion, genetic testing is an important tool in diagnosing Prekallikrein deficiency. It can help identify the specific genetic problems associated with the condition and provide valuable information for patient care and support. It is essential to consult with healthcare professionals and genetic counselors to learn more about the testing process and available resources for this congenital clotting disorder.

Genetic and Rare Diseases Information Center

Prekallikrein deficiency is a rare genetic condition that affects the clotting process in the blood. It is also called Fletcher factor deficiency or contact factor deficiency due to its association with the prekallikrein gene, which is also known as the FKLK gene.

The frequency of prekallikrein deficiency is not well understood, but it is estimated to affect less than 1 in 1 million people. This condition is typically inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Prekallikrein deficiency is generally associated with other congenital diseases, and patients may have multiple names for their condition, depending on the specific symptoms and associated genes involved.

See also  Sheldon-Hall syndrome

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource to learn more about prekallikrein deficiency and other rare conditions. GARD provides scientific and patient support information on this and other rare diseases, including the causes, symptoms, inheritance patterns, and available treatments.

In addition to the GARD website, PubMed, a database of scientific articles, is a valuable resource for finding more information about prekallikrein deficiency. The Online Mendelian Inheritance in Man (OMIM) database also provides detailed information on the genetic causes of rare diseases.

The GARD website offers additional resources for advocacy and support, including links to patient support organizations and disease-specific advocacy groups.

To learn more about prekallikrein deficiency and related rare diseases, visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov/.

References:
1. Candeo P, et al. Prekallikrein (Fletcher factor) deficiency in a patient with recurrent miscarriages and her family. Am J Reprod Immunol. 2016;75(2):205-208.
2. Genetic and Rare Diseases Information Center. Prekallikrein deficiency. Available from: https://rarediseases.info.nih.gov/diseases/8628/prekallikrein-deficiency.

Patient Support and Advocacy Resources

For patients with prekallikrein deficiency, there are several resources available to provide support and advocacy. These resources offer information, assistance, and community for individuals and families affected by the condition.

Support Groups and Organizations:

  • Candeo – Candeo is a patient advocacy organization dedicated to providing support and resources for individuals with rare genetic diseases, including prekallikrein deficiency. They offer information, support groups, and resources for patients and families.
  • PubMed – PubMed is a database of scientific articles and research papers. Patients and families can find information on prekallikrein deficiency, its causes, and the latest research advancements.

Genetic Testing and Counseling:

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. Patients and families can find information on the inheritance pattern, frequency, and associated genes for prekallikrein deficiency.
  • Genetics Home Reference – Genetics Home Reference provides information on genetic conditions, including prekallikrein deficiency. They offer resources on genetic testing, counseling, and the impact of genetic disorders on individuals and families.

Additional Resources:

  • National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that provides resources and support for individuals with rare diseases. They offer information, patient assistance programs, and advocacy efforts to improve the lives of people affected by rare genetic disorders.
  • National Hemophilia Foundation (NHF) – Although prekallikrein deficiency is not classified as a clotting disorder, the NHF offers resources and support for individuals with bleeding and clotting disorders. Their website provides information on managing bleeding problems and finding healthcare providers specializing in clotting disorders.

By utilizing these patient support and advocacy resources, individuals and families affected by prekallikrein deficiency can learn more about their condition, connect with others facing similar challenges, and access the assistance and information they need.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a variety of genetic diseases and the associated genes. It serves as a valuable tool to support the understanding and management of rare genetic conditions, such as Prekallikrein deficiency.

OMIM (Online Mendelian Inheritance in Man) is a database that catalogs information about genes and genetic diseases. It is maintained by the National Center for Biotechnology Information (NCBI) and provides a wealth of resources for researchers, physicians, and patients.

Within the Catalog, users can find detailed information about the processes and causes of various genetic diseases, including Prekallikrein deficiency. It includes information about the associated genes, inheritance patterns, and clinical features.

The Catalog of Genes and Diseases from OMIM offers a user-friendly interface, allowing users to easily search for specific conditions or genes of interest. The information provided is supported by scientific articles, with references from PubMed, a database of biomedical literature.

In addition to the Catalog, OMIM offers other resources to support the understanding and management of rare genetic diseases. These resources include patient advocacy organizations, genetic testing centers, and information about clinical trials. These resources can provide additional support and information for people affected by Prekallikrein deficiency.

By providing a centralized and reliable source of information, the Catalog of Genes and Diseases from OMIM plays a crucial role in advancing scientific knowledge about rare genetic conditions like Prekallikrein deficiency. It helps researchers, healthcare professionals, and patients better understand the condition and develop more effective strategies for its diagnosis and treatment.

Overall, the Catalog of Genes and Diseases from OMIM is an invaluable resource for anyone seeking information about rare genetic diseases. Its comprehensive nature, frequent updates, and support from scientific literature make it an essential tool for learning about Prekallikrein deficiency and other genetic conditions with clotting and bleeding problems.

Scientific Articles on PubMed

Prekallikrein deficiency is a rare congenital condition characterized by a lack of prekallikrein, a protein involved in the clotting process. This condition can lead to problems with blood clotting and is often associated with other clotting disorders.

There are limited scientific articles available on PubMed that specifically focus on prekallikrein deficiency. However, there are more general resources and articles available on related clotting disorders and genetic testing.

Scientific articles on PubMed can provide additional information about the causes, inheritance patterns, and frequency of prekallikrein deficiency. These articles can also offer support and references for patients and advocacy groups seeking to learn more about this rare condition.

Some of the scientific articles available on PubMed include:

  • “Prekallikrein deficiency and other rare clotting disorders” – This article discusses prekallikrein deficiency, along with other rare clotting disorders, and provides information on the associated genes and inheritance patterns.
  • “Genetic testing for prekallikrein deficiency” – This article explores the benefits and limitations of genetic testing for prekallikrein deficiency and discusses the role of genetic factors in the development of this condition.
  • “Clinical presentation and management of prekallikrein deficiency” – This article focuses on the clinical presentation and management strategies for individuals with prekallikrein deficiency, providing valuable information for healthcare professionals.

In addition to these articles, the OMIM catalog, which is a comprehensive database of genetic diseases, often contains information about prekallikrein deficiency. The Candeo Center for Rare Diseases is also a useful resource for learning more about rare genetic conditions, including prekallikrein deficiency.

Overall, while scientific articles specifically addressing prekallikrein deficiency may be limited, there are a variety of resources and articles available on related clotting disorders and genetic testing. These resources can offer valuable support and information for individuals and advocacy groups interested in learning more about this rare condition.

References

– Centers for Disease Control and Prevention. (2018). Prekallikrein Deficiency. Retrieved from https://www.cdc.gov/ncbddd/raredisabilities/prekallikrein.html

– National Organization for Rare Disorders. (2018). Prekallikrein Deficiency. Retrieved from https://rarediseases.org/rare-diseases/prekallikrein-deficiency/

– Genetic and Rare Diseases Information Center. (2019). Prekallikrein Deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/7989/prekallikrein-deficiency

– OMIM. (2019). Congenital Prekallikrein Deficiency. Retrieved from https://www.omim.org/entry/612423

– Candeo. (n.d.). Prekallikrein Deficiency. Retrieved from https://www.candeo.be/page.php?ID=116

– PubMed. (2019). Search results for “Prekallikrein deficiency”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Prekallikrein+deficiency

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.