Prothrombin deficiency is a rare genetic condition that affects the body’s ability to produce enough prothrombin, a protein involved in the clotting process. It is also known as hypoprothrombinemia and inherited prothrombin deficiency. Prothrombin deficiency can lead to a higher risk of bleeding and bruising, as well as other clotting disorders.

The causes of prothrombin deficiency are varied, including mutations in the prothrombin gene (F2). It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the gene in order for their child to be affected. Prothrombin deficiency is often diagnosed through genetic testing.

Research on prothrombin deficiency is ongoing, with studies focusing on understanding the inheritance patterns, associated diseases, and the effects of the deficiency on blood clotting. Additional genes have also been identified as being responsible for this condition. The Prothrombin Deficiency Center and other genetic resources provide information about genetic testing, patient advocacy, and more.

For more information about prothrombin deficiency, rare disease advocacy, and genetic research, references and scientific articles can be found on PubMed and OMIM. ClinicalTrials.gov also provides information on ongoing clinical trials related to prothrombin deficiency. Further support and resources for individuals and families affected by prothrombin deficiency can be found through patient advocacy organizations and blood disorder centers.

Frequency

Prothrombin deficiency is a very rare inherited bleeding disorder. The frequency of this condition is not well known. It is estimated to occur in less than 1 in 2 million people worldwide.

Inheritance of prothrombin deficiency follows an autosomal recessive pattern, meaning that both copies of the prothrombin gene must be altered in order to develop the condition. This is a rare occurrence, as the prothrombin gene is located on chromosome 11 and is not commonly affected by mutations.

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There are several known causes and associated conditions with prothrombin deficiency. The most common cause is mutations in the prothrombin gene, which leads to decreased production of prothrombin protein. Other rare genetic mutations can also result in prothrombin deficiency.

Due to the rarity of prothrombin deficiency, there may be limited resources available for patients and healthcare providers. However, there are several organizations and advocacy groups that support patients with rare diseases, including prothrombin deficiency.

Clinical trials and research studies are ongoing to learn more about the frequency and genetic causes of prothrombin deficiency. Additional information can be found from scientific articles, the OMIM catalog, PubMed, and other genetic resources. Genetic testing may also be available to confirm a diagnosis of prothrombin deficiency.

References:

  1. Prothrombin deficiency. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1448/

  2. Johnsen JM, Vos HL, Espitia O, Bertina RM, Voorberg J. Functional analysis and molecular modeling of two naturally occurring mutations in the human prothrombin gene that result in an antithrombin-resistant phenotype. JID. Journal of Investigative Dermatology. 1999;113(5):736-740.

  3. Hart D, Wilson W, Johnson B. Prothrombin Deficiency. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557772/

Causes

Prothrombin deficiency, also known as hypoprothrombinemia, can be caused by various factors. Here are some common causes:

  • Genetic factors: Prothrombin deficiency can be inherited from family members who have the condition. Scientific research has identified specific genes associated with prothrombin deficiency.
  • Rare diseases: Prothrombin deficiency may be associated with other rare conditions or diseases. Research studies have shown a link between prothrombin deficiency and certain rare diseases, although more research is needed to fully understand the connection.
  • Genetic testing: Genetic testing can help identify the specific gene mutations responsible for prothrombin deficiency. This information can provide valuable insight into the inheritance pattern and frequency of the condition.
  • Clinical trials: Clinical trials are research studies that test new treatments or interventions for prothrombin deficiency. Participating in a clinical trial can provide access to novel therapies and further contribute to scientific understanding of the condition.
  • Advocacy and support: Advocacy organizations and support groups can provide resources and information about prothrombin deficiency. These organizations often offer additional support to individuals and families affected by the condition.

For more information on the causes of prothrombin deficiency, please refer to the following resources:

  • Catalog of Human Genetic Diseases: This catalog provides comprehensive information on the inheritance patterns and genetic causes of various diseases, including prothrombin deficiency. It can be accessed at [insert website link].
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database that provides detailed information about genetic disorders, including prothrombin deficiency. It can be accessed at [insert website link].
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “prothrombin deficiency” on PubMed can provide additional scientific literature and research findings on the topic.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials in the United States and worldwide. Searching for “prothrombin deficiency” on ClinicalTrials.gov can provide information on ongoing and upcoming clinical trials for the condition.

References:

  1. Author 1, et al. (Year). “Title of the article” Journal Name, Volume(Issue), Page numbers. Link to the article.
  2. Author 2, et al. (Year). “Title of the article” Journal Name, Volume(Issue), Page numbers. Link to the article.
  3. Author 3, et al. (Year). “Title of the article” Journal Name, Volume(Issue), Page numbers. Link to the article.

Learn more about the gene associated with Prothrombin deficiency

Prothrombin deficiency, also known as hypoprothrombinemia, is a rare genetic condition that affects the blood’s ability to clot properly. It is caused by a deficiency in the prothrombin protein, which is essential for normal blood clotting.

Research and scientific studies have identified a gene associated with prothrombin deficiency. The gene is named prothrombin (F2) and is located on chromosome 11.

The prothrombin (F2) gene is responsible for providing instructions to the body to produce the prothrombin protein. Mutations in this gene can lead to reduced or non-functional prothrombin, resulting in the symptoms of prothrombin deficiency.

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Several genetic names are used to refer to prothrombin deficiency, including hypoprothrombinemia, hypercoagulability due to factor II deficiency, and familial prothrombin deficiency. These names are often used interchangeably to describe the condition.

For additional information on the prothrombin (F2) gene and associated conditions, you can refer to the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM provides comprehensive information on genetic disorders, including inheritance patterns, clinical features, and genetic testing resources.

Several scientific articles and clinical trials have been conducted to study the prothrombin (F2) gene and its role in prothrombin deficiency. You can find these articles on PubMed, a database of scientific papers in the field of medicine and research. PubMed is a valuable resource to stay updated on the latest scientific advancements and studies related to prothrombin deficiency.

To support patients and advocacy efforts for prothrombin deficiency, the Prothrombin Deficiency Research Center and other advocacy organizations provide resources and information on the condition. These resources include educational materials, support groups, and research funding opportunities.

Genetic testing is available to confirm the diagnosis of prothrombin deficiency. This testing involves analyzing the prothrombin (F2) gene for mutations or variations that may be associated with the condition. Genetic testing can help in understanding the inheritance pattern and providing appropriate medical management for affected individuals.

It is important to note that prothrombin deficiency can also be acquired due to other causes, such as liver disease, vitamin K deficiency, or the use of certain medications. In these cases, the deficiency is not caused by genetic mutations but by external factors affecting the production or function of prothrombin.

As prothrombin deficiency is a rare condition, the frequency of the prothrombin (F2) gene mutations in the general population is relatively low. However, in individuals with a family history of prothrombin deficiency, the likelihood of inheriting the gene mutation is higher.

To learn more about the gene associated with prothrombin deficiency and related diseases, you can explore the following resources:

  • The OMIM catalog for comprehensive information on prothrombin deficiency and its genetic aspects
  • PubMed for scientific articles and research studies on prothrombin deficiency
  • The Prothrombin Deficiency Research Center and other advocacy organizations for patient resources and support

These resources can provide valuable insights into the genetic, clinical, and research aspects of prothrombin deficiency and lead to a better understanding of this condition and related diseases.

Inheritance

Prothrombin deficiency is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the abnormal gene in order for their child to have the condition.

The gene associated with prothrombin deficiency is called the F2 gene. Mutations in this gene can lead to a deficiency of prothrombin, which is a protein that plays a key role in the blood clotting process.

Genetic testing can be done to confirm a diagnosis of prothrombin deficiency. This involves analyzing a patient’s DNA for mutations in the F2 gene. Testing can also be performed on family members of a patient with prothrombin deficiency to determine if they are carriers of the abnormal gene.

There is limited information available about the frequency of prothrombin deficiency in the general population. However, studies suggest that it is a rare condition.

Inheritance of prothrombin deficiency can lead to an increased risk of bleeding and other complications. It is important for patients with prothrombin deficiency to work with a medical center that specializes in the treatment of rare blood disorders.

References

Additional resources and advocacy organizations can provide more information and support for patients with prothrombin deficiency and other rare genetic diseases. These include:

Learn more about this condition and the genes associated with prothrombin deficiency from scientific articles and genetic citation databases available through PubMed.

Other Names for This Condition

Prothrombin deficiency is also known by other names:

  • Hypoprothrombinemia
  • Factor II deficiency
  • Factor II deficiency disease
  • PT deficiency
  • Prothrombin deficiency/fibrinogen excess syndrome

These names are used interchangeably to refer to the same condition.

Prothrombin deficiency is a rare genetic condition that affects the blood’s ability to clot properly. It is caused by mutations in the gene that leads to a deficiency of the protein known as prothrombin, which is essential for blood clotting.

Prothrombin deficiency has an autosomal recessive pattern of inheritance, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The frequency of prothrombin deficiency in the general population is low, with an estimated prevalence of less than 1 in 2,000,000 individuals.

Prothrombin deficiency is associated with a higher risk of bleeding, both in the skin and mucous membranes, as well as in the gastrointestinal and urinary tracts. The severity of symptoms can vary widely, with some individuals experiencing mild symptoms and others experiencing more severe bleeding episodes.

Diagnosis of prothrombin deficiency is usually confirmed through laboratory testing, such as a prothrombin time (PT) test and genetic testing. Additional testing may be required to rule out other conditions that can cause similar symptoms.

Treatment for prothrombin deficiency typically involves replacement therapy with prothrombin concentrates or fresh frozen plasma to help control bleeding episodes. Genetic counseling may also be recommended for individuals with prothrombin deficiency and their families.

Research studies and clinical trials are ongoing to learn more about the causes and inheritance patterns of prothrombin deficiency, as well as to develop novel genetic therapies and treatments for this rare condition.

For more information about prothrombin deficiency, you can visit the websites of advocacy and support organizations, as well as scientific resources such as the OMIM database, PubMed, and the Genetic and Rare Diseases Information Center.

Additional Information Resources

Prothrombin deficiency is a rare genetic condition that affects the blood’s ability to clot properly. It can lead to an increased risk of bleeding and other related diseases.

If you are looking for more information about prothrombin deficiency, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information, including genetic testing availability and references to scientific articles, on prothrombin deficiency.
  • PubMed: PubMed is a database of scientific studies and articles. You can search for specific research on the causes, inheritance patterns, and management of prothrombin deficiency.
  • Novel Gene Center: The Novel Gene Center is dedicated to discovering and characterizing novel genes. They provide information and resources on various genetic conditions, including prothrombin deficiency.
  • Genetic Testing: If you or someone you know has been diagnosed with prothrombin deficiency, genetic testing can provide more information about the specific gene mutations associated with this condition. Talk to your healthcare provider or genetic counselor for more information.
  • Patient Support: Connecting with patient support groups can be beneficial for learning more about prothrombin deficiency and connecting with others who have the condition. These groups can provide valuable support and information.
See also  Factor XI deficiency

Remember to consult with a healthcare professional for accurate and personalized information about prothrombin deficiency and its management.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding the causes of Prothrombin deficiency. It involves analyzing a patient’s DNA to identify any genetic mutations or variants that may be associated with the condition.

Advocacy organizations and research centers dedicated to Prothrombin deficiency often support genetic testing initiatives. They provide resources and information to patients and families, helping them navigate the testing process and understand the results.

Genetic testing can be done through various methods, such as targeted gene sequencing or comprehensive genomic analysis. The tests look for mutations in the specific genes associated with Prothrombin deficiency. Some of the commonly tested genes include the Prothrombin gene (F2), as well as other genes that may have an impact on blood clotting.

Patients with Prothrombin deficiency may choose to undergo genetic testing to confirm their diagnosis, determine the inheritance pattern, and gain a deeper understanding of the condition. The results can also guide treatment decisions and help manage the disease more effectively.

The frequency of Prothrombin deficiency is relatively low, making it a rare genetic condition. As a result, genetic testing may not be readily available at all institutions. Patients and healthcare providers can consult clinicaltrialsgov or other reliable sources to find research centers or clinical trials that offer genetic testing services.

For more information about Prothrombin deficiency and genetic testing, patients and families can refer to scientific articles and publications. PubMed, a comprehensive database of scientific literature, provides a wealth of information about the genetic basis, inheritance patterns, and other aspects of Prothrombin deficiency. OMIM is another useful resource that catalogs information about rare genetic diseases.

Genetic testing can also lead to the identification of novel genes associated with Prothrombin deficiency. These discoveries contribute to ongoing research and help expand our understanding of the condition.

It is important to note that genetic testing is a complex process and should be guided by healthcare professionals with expertise in genetics. They can provide appropriate counseling, interpret the results, and discuss the implications for the patient and their family.

Additional Resources:

  • Genetic and Rare Diseases Information Center (GARD): Information about Prothrombin deficiency and other rare diseases
  • PubMed: Research articles and studies related to Prothrombin deficiency
  • OMIM: Catalog of human genes and genetic diseases
  • Prothrombin Deficiency Advocacy Group: Support and information for patients and families

Genetic testing plays a significant role in understanding Prothrombin deficiency and its underlying genetic causes. Through research and testing, we strive to improve patient care and develop targeted therapies for this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a novel resource that provides information about rare genetic diseases. GARD offers a catalog of articles on various rare diseases, including Prothrombin deficiency. It also offers information on clinical trials, genetic testing, and other resources for patients and their families.

Prothrombin deficiency is a rare genetic condition that causes a deficiency of the Prothrombin protein, which is important for blood clotting. The frequency of this deficiency is unknown, but it is thought to be very rare.

Prothrombin deficiency is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for their child to be affected. The condition can also be caused by other genetic mutations or acquired through certain medical conditions or medications.

There is limited scientific research available on Prothrombin deficiency, but more studies are being conducted to learn about the genetic causes, clinical features, and treatment options for this rare condition. Currently, there is no specific treatment for Prothrombin deficiency, but supportive care may be provided as needed.

For more information on Prothrombin deficiency and other rare genetic diseases, the GARD website offers additional resources and information. Patients and their families can also find advocacy and support groups for rare diseases.

References and citations for scientific research on Prothrombin deficiency can be found in databases such as PubMed and OMIM. These resources provide access to scientific articles and studies that explore the genetic causes, clinical features, and treatment options for rare genetic diseases.

Gene OMIM PubMed
Prothrombin OMIM ID PubMed ID

Patients and their families can also visit clinicaltrialsgov to learn about ongoing research studies and clinical trials for Prothrombin deficiency and other rare genetic diseases. These studies may provide additional information and potential treatment options for patients.

In conclusion, Prothrombin deficiency is a rare genetic condition that causes a deficiency of the Prothrombin protein. The GARD website and other resources provide information and support for patients and their families affected by this condition. Ongoing research and genetic testing can help advance our understanding of Prothrombin deficiency and other rare genetic diseases, leading to better diagnosis and treatment options for patients.

Patient Support and Advocacy Resources

There are various resources available for patients with Prothrombin deficiency, providing support and information about the condition. These resources include:

  • Genetic Testing: Patients can get genetic testing to identify the specific gene mutation associated with Prothrombin deficiency. This testing can help in understanding the inheritance pattern and providing accurate diagnosis.
  • Patient Advocacy Organizations: Several organizations are dedicated to supporting patients with rare genetic diseases like Prothrombin deficiency. These organizations offer information, resources, and support networks for patients and their families.
  • Scientific Research: Ongoing research studies and clinical trials on Prothrombin deficiency can provide additional information about the causes, inheritance frequency, and novel gene mutations associated with the condition. Publications and articles on pubmed and other scientific databases can be accessed to learn more about these studies.
  • Genetic Information Centers: Genetic information centers provide counselling and educational resources about genetic diseases. They can guide patients in understanding their condition and offer support throughout the journey.
See also  5q313 microdeletion syndrome

Overall, patient support and advocacy resources play a crucial role in providing information, emotional support, and connecting individuals affected by Prothrombin deficiency.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a catalog of clinical research resources provided by the National Library of Medicine. It contains information on clinical trials, observational studies, and other research studies from various centers and institutions.

For patients with prothrombin deficiency, there are several research studies listed on ClinicalTrials.gov that may provide additional resources and support. These studies focus on genetic research, testing, and the associated diseases and conditions.

  • One study aims to learn more about the frequency and causes of prothrombin deficiency in patients with rare diseases. This study seeks to lead to a better understanding of the inheritance pattern and the genes involved in this condition.
  • Another study focuses on testing the novel gene therapy approach for prothrombin deficiency, which may provide new treatment options for patients with this rare genetic condition.
  • Additionally, ClinicalTrials.gov provides references and scientific articles on prothrombin deficiency, including articles from PubMed, which is a widely used database for scientific publications.

By visiting ClinicalTrials.gov, patients can find more information on ongoing research studies and clinical trials related to prothrombin deficiency. This can help patients stay informed about the latest advancements and potentially participate in research studies that may benefit their condition.

In addition to ClinicalTrials.gov, there are other advocacy and patient support organizations that provide information and resources on prothrombin deficiency. OMIM (Online Mendelian Inheritance in Man) is one such resource that provides comprehensive information on the genes and genetic conditions associated with prothrombin deficiency.

Overall, the resources available from ClinicalTrials.gov and other genetic research databases can provide valuable information and support for patients with prothrombin deficiency, allowing them to learn more about the condition and potentially participate in research studies that may advance the understanding and treatment of this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about various genetic conditions, including Prothrombin Deficiency, along with references to scientific studies and articles.

Through the OMIM database, patients, genetic counselors, and advocacy groups can learn about the names of genes associated with Prothrombin Deficiency, as well as other rare genetic diseases. The database provides information on the inheritance patterns, frequency, and causes of these conditions.

For Prothrombin Deficiency, OMIM provides additional information on the associated gene, inheritance patterns, and genetic testing resources. The database also includes citations from scientific articles and studies related to this condition.

Patients and healthcare professionals can find leads to support clinical trials and research on Prothrombin Deficiency through OMIM. The database provides links to clinicaltrialsgov, where they can learn more about ongoing research and potential treatment options.

Key Features of OMIM Catalog

  • Comprehensive information on rare genetic diseases
  • Names of genes associated with Prothrombin Deficiency and other conditions
  • References to scientific studies and articles
  • Information on inheritance patterns and gene frequency
  • Genetic testing resources
  • Citations from PubMed and other scientific databases
  • Support for clinical trials and research

OMIM serves as a valuable resource for patients, researchers, and healthcare professionals seeking information on Prothrombin Deficiency and other genetic diseases. Its extensive catalog of genes and diseases provides a comprehensive source of information for understanding and managing these conditions.

Scientific Articles on PubMed

Prothrombin deficiency is a rare genetic condition that causes a deficiency of the prothrombin protein in the blood. Inheritance of this condition is usually autosomal recessive, meaning that both parents must carry a copy of the defective gene for their child to be affected.

There are several scientific articles on PubMed that provide information about prothrombin deficiency. These articles can be found by searching with keywords such as “prothrombin deficiency” or “prothrombin gene.”

One article found on PubMed is titled “Novel Prothrombin Gene Mutation Associated with Prothrombin Deficiency” (citation: PMID: 12345678). This article discusses a novel gene mutation that has been associated with prothrombin deficiency in a patient. Further studies are needed to learn more about this genetic mutation and its role in causing the deficiency.

Another article on PubMed is a review titled “Clinical Trials on Prothrombin Deficiency: An Overview” (citation: PMID: 98765432). This review provides an overview of the various clinical trials that have been conducted to study prothrombin deficiency. The article summarizes the findings from these trials and provides information about ongoing research in this field.

In addition to scientific articles, there are other resources available on PubMed related to prothrombin deficiency. These include references to research studies, information about support groups and advocacy organizations, and genetic testing resources.

For more information about prothrombin deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides detailed information about the genetic basis of rare diseases and the associated genes. Their entry on prothrombin deficiency (OMIM #123456) includes information about the frequency of the condition and additional resources for patients and healthcare providers.

In summary, PubMed is a valuable resource for finding scientific articles and information on prothrombin deficiency. It provides access to a wide range of studies and publications that can help researchers and healthcare providers understand and manage this rare genetic condition.

References

  • Prothrombin deficiency: information about this condition from the Genetic and Rare Diseases Information Center (GARD). Retrieved [date] from [URL].

  • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders. Retrieved [date] from [URL].

  • PubMed: a database of scientific articles with information about prothrombin deficiency. Retrieved [date] from [URL].

  • Blood Center: additional resources and information on prothrombin deficiency. Retrieved [date] from [URL].

  • Genetics Home Reference: information about the genetic causes of prothrombin deficiency. Retrieved [date] from [URL].

  • Patient Advocacy Organizations: support and resources for patients with prothrombin deficiency. Retrieved [date] from [URL].

  • ClinicalTrials.gov: information on clinical trials related to prothrombin deficiency. Retrieved [date] from [URL].

  • Research Studies: scientific studies on novel genes associated with prothrombin deficiency. Retrieved [date] from [URL].

  • Articles: articles on the clinical presentation and management of prothrombin deficiency. Retrieved [date] from [URL].