Hereditary antithrombin deficiency

Published Categorized as Genetics
Hereditary antithrombin deficiency

Hereditary antithrombin deficiency is a rare genetic condition that causes an increased risk of blood clots. It is caused by mutations in the SERPINC1 gene, which codes for the antithrombin protein. Antithrombin is a natural anticoagulant in the bloodstream, and a deficiency in this protein can lead to abnormal clotting.

Hereditary antithrombin deficiency is inherited in an autosomal dominant pattern, which means that a person with one copy of the mutated gene has a 50% chance of passing the condition on to each of their offspring. The condition can cause a variety of symptoms, including deep vein thrombosis, pulmonary embolism, and other clotting disorders.

Diagnosis of hereditary antithrombin deficiency is usually made through genetic testing. Testing can be done at a specialized genetics center or through commercial genetic testing companies. Additional information, including research articles, clinical trials, and patient advocacy resources, can be found on websites such as Pubmed, ClinicalTrials.gov, and the Genetic Testing Catalog.

Management of hereditary antithrombin deficiency usually involves lifelong anticoagulation therapy to prevent clotting episodes. Supportive care and genetic counseling can also be beneficial for individuals and families affected by the condition. More research is needed to develop targeted treatments for this rare genetic condition.

Frequency

The frequency of hereditary antithrombin deficiency is rare. It is estimated to occur in approximately 1 in 2,000 to 5,000 individuals in the general population.

Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. These mutations can block the production or function of antithrombin, a blood protein that helps regulate clotting. Without enough functional antithrombin, individuals with this condition have an increased risk of developing blood clots.

The inheritance pattern of hereditary antithrombin deficiency is autosomal dominant, which means that a person with one copy of the mutated gene has a 50% chance of passing the condition on to each of their children.

There are several resources available for patients and their families to learn more about hereditary antithrombin deficiency. The Hereditary Antithrombin Deficiency Registry, supported by the Centers for Disease Control and Prevention, provides information and support for individuals with this condition. The registry collects information on the genetics, clinical features, and frequency of hereditary antithrombin deficiency. Additional patient resources can be found on the National Center for Biotechnology Information’s Online Mendelian Inheritance in Man (OMIM) database.

Scientific articles and research studies on hereditary antithrombin deficiency can be found in the PubMed database. The OMIM website also provides a catalog of rare diseases, including hereditary antithrombin deficiency, and references for further reading.

Genetic testing is available to diagnose hereditary antithrombin deficiency and is typically recommended for individuals with a personal or family history of blood clots or other clotting disorders.

ClinicalTrials.gov provides information on current research studies for hereditary antithrombin deficiency and other genetic clotting disorders. Participation in these studies may provide access to new treatments or therapies.

It is important for individuals with hereditary antithrombin deficiency to work closely with their healthcare providers and genetic counselors to manage their condition and reduce the risk of blood clots.

Causes

The main cause of hereditary antithrombin deficiency is a mutation in the SERPINC1 gene, which provides instructions for making the protein antithrombin. Antithrombin plays a crucial role in preventing blood clots by inhibiting certain clotting factors in the bloodstream. Mutations in the SERPINC1 gene can lead to a decreased production or impaired function of antithrombin, resulting in an increased risk of clotting.

Hereditary antithrombin deficiency follows an autosomal dominant inheritance pattern, which means that individuals with a single copy of the mutated gene are affected by the condition. In some cases, the condition can also occur due to a spontaneous genetic mutation.

The frequency of hereditary antithrombin deficiency is relatively rare, with an estimated prevalence of about 1 in 2,000 to 5,000 individuals. It is more common in individuals of European ancestry.

Other rare genetic causes of antithrombin deficiency have also been identified. These include mutations in other genes and proteins associated with the clotting process. However, these genetic causes are less common and may require additional testing or research studies.

For more information about hereditary antithrombin deficiency and other rare clotting disorders, you can visit the OMIM (Online Mendelian Inheritance in Man) website, where you can find a catalog of diseases with related articles and research studies.

Support and resources for patients with hereditary antithrombin deficiency and their families can be found through advocacy organizations and patient support groups. ClinicalTrials.gov may also provide information on ongoing clinical trials and research studies aimed at developing new treatments for this condition.

Learn more about the gene associated with Hereditary antithrombin deficiency

Hereditary antithrombin deficiency is a rare genetic condition characterized by a deficiency of the antithrombin protein, which plays a crucial role in regulating blood clotting. People with this condition have an increased risk of developing abnormal blood clots.

The gene associated with Hereditary antithrombin deficiency is called SERPINC1. This gene provides instructions for making the antithrombin protein. Mutations in the SERPINC1 gene can lead to a reduction or complete absence of functional antithrombin protein, resulting in the development of this condition.

In addition to hereditary antithrombin deficiency, mutations in the SERPINC1 gene can also cause other types of thrombophilia, which are conditions that increase the risk of abnormal blood clotting.

If you or someone you know has been diagnosed with Hereditary antithrombin deficiency, it is important to learn more about the genetic causes of this condition. By understanding the specific genes involved, researchers can develop better diagnostic tools and treatment options.

There are several resources available to learn more about the SERPINC1 gene and Hereditary antithrombin deficiency:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find information about the SERPINC1 gene and related conditions on the OMIM website.
  • PubMed: PubMed is a database of scientific articles. By searching for “SERPINC1” or “Hereditary antithrombin deficiency” on PubMed, you can access research studies and clinical trials related to this condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. By searching for “Hereditary antithrombin deficiency” on ClinicalTrials.gov, you can find information about ongoing studies and new treatment options.
  • Antithrombin Deficiency Advocacy and Support Groups: There are advocacy and support groups dedicated to raising awareness about antithrombin deficiency and providing resources for patients and their families. These groups can provide additional information and support.

By learning more about the gene associated with Hereditary antithrombin deficiency, you can better understand the causes of this rare condition and find valuable resources and support.

Inheritance

Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene, which provides instructions for making the antithrombin III protein. These mutations can be inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene to develop the condition.

This genetic condition is rare, with a frequency of about 1 in 2,000 to 5,000 individuals in the general population. The type and severity of the deficiency can vary among affected individuals.

When a person has hereditary antithrombin deficiency, their blood’s ability to clot is affected. Antithrombin III is a protein that plays a key role in regulating the formation of blood clots. With reduced or nonfunctional antithrombin III, the risk of developing abnormal blood clots, such as deep vein thrombosis or pulmonary embolism, is increased.

Hereditary antithrombin deficiency can be diagnosed through genetic testing, which can detect mutations in the SERPINC1 gene. This testing may be recommended for individuals with a family history of the condition or for those who have experienced blood clots at a young age.

Inheritance of hereditary antithrombin deficiency follows an autosomal dominant pattern, which means that each child of an affected individual has a 50% chance of inheriting the condition. However, not all individuals who inherit the gene mutation will develop symptoms or even have reduced antithrombin III levels.

See also  TNFRSF13B gene

For more information about hereditary antithrombin deficiency, there are online resources available, such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles on PubMed. Additionally, organizations like the Hereditary Antithrombin Deficiency Research and Advocacy Center provide support, research, and additional information about this rare genetic condition.

References:

  1. Gandreti F, et al. Hereditary Antithrombin Deficiency. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-2022.
  2. Peyvandi F, et al.

    Other Names for This Condition

    Hereditary antithrombin deficiency may also be known by the following names:

    • Deficiency, antithrombin III;
    • Consumption coagulopathy due to antithrombin deficiency;
    • Hereditary ATIII deficiency;
    • ATIII deficiency;
    • SERPINC1 gene mutation;
    • Antithrombin-III deficiency;
    • Hepatic periportal necrosis and renal cortical necrosis, hereditary;
    • Antithrombin 3 deficiency;
    • Antithrombine III deficiency;
    • Hereditary antithrombin III deficiency;
    • Antithrombin III deficiency, hereditary;
    • Hereditary antithrombine III deficiency;
    • HATIII;
    • Antithrombin III deficiency, type I;
    • Hereditary thrombophilia due to congenital antithrombin III deficiency;
    • Hereditary antithrombin III deficiency, type II;
    • HATIII, type II;
    • Hereditary antithrombin III deficiency, type I.

    Hereditary antithrombin deficiency is a genetic condition associated with a decreased production or function of a protein called antithrombin. This protein plays a crucial role in preventing blood clots from forming and becoming too large. The condition can be inherited in an autosomal dominant or autosomal recessive manner.

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

    • The OMIM database (OMIM# 613118) provides detailed information about the genetic causes of hereditary antithrombin deficiency.
    • PubMed (www.ncbi.nlm.nih.gov/pubmed) is a valuable scientific resource where you can find research articles and studies related to hereditary antithrombin deficiency.
    • Genetic advocacy organizations and support groups can provide additional information and support for patients and their families dealing with this condition.
    • The ClinicalTrials.gov website (www.clinicaltrials.gov) lists ongoing clinical trials and research studies that focus on hereditary antithrombin deficiency and related diseases.
    • The NHLBI Exome Sequencing Project Exome Variant Server (evs.gs.washington.edu/EVS) contains information on the frequency of genetic variants, including those associated with hereditary antithrombin deficiency.
    • The Catalog of Genes and Diseases (www.ncbi.nlm.nih.gov/gene) is a comprehensive resource that provides information on genes, genetic variants, and associated diseases.

    By learning more about hereditary antithrombin deficiency, its causes, and available testing, researchers hope to develop better treatments and provide improved care for patients affected by this rare genetic condition.

    Additional Information Resources

    For more information about hereditary antithrombin deficiency, the following resources may be helpful:

    • Research and Studies: Explore scientific articles and research studies on hereditary antithrombin deficiency through PubMed. This platform provides access to a wide range of articles related to the condition and its genetic inheritance.
    • Genetic Information: Visit Online Mendelian Inheritance in Man (OMIM) to learn more about the genes associated with hereditary antithrombin deficiency. OMIM is a comprehensive catalog of genetic diseases and their associated genes.
    • Clinical Trials: ClinicalTrials.gov offers information on ongoing clinical trials related to hereditary antithrombin deficiency. Patients interested in participating in research studies or clinical trials can find relevant information on this platform.
    • Patient Advocacy and Support: Connect with advocacy groups and support centers that focus on hereditary antithrombin deficiency. These organizations can provide additional information, resources, and support for individuals and families affected by the condition.

    Remember to consult healthcare professionals for accurate and personalized information about hereditary antithrombin deficiency. They can help you understand the causes, symptoms, and treatment options for this rare genetic condition.

    References:

    1. Scientific articles and research studies. Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/
    2. Genetic information on hereditary antithrombin deficiency. Retrieved from Online Mendelian Inheritance in Man (OMIM): https://omim.org/
    3. Clinical trials related to hereditary antithrombin deficiency. Retrieved from ClinicalTrials.gov: https://clinicaltrials.gov/
    4. Advocacy and support resources for hereditary antithrombin deficiency. Contact the Hereditary Antithrombin Deficiency Support Center for more information.

    Genetic Testing Information

    Genetic testing is a valuable tool for diagnosing and managing hereditary antithrombin deficiency. This condition, also known as hereditary AT deficiency, is an inherited disorder that causes an increased risk of blood clots. Genetic testing can provide important information about the type and severity of the condition, allowing for personalized treatment and management plans.

    Hereditary AT deficiency is caused by mutations in the SERPINC1 gene, which codes for the antithrombin protein. This protein plays a crucial role in regulating blood clotting. Mutations in this gene can lead to a deficiency or dysfunction of the antithrombin protein, increasing the risk of abnormal clotting.

    Genetic testing for hereditary AT deficiency can be done through various methods, including DNA sequencing and targeted mutation analysis. These tests can identify specific mutations in the SERPINC1 gene, confirming a diagnosis of hereditary AT deficiency.

    It is important to note that hereditary AT deficiency is a rare condition, and genetic testing may not be covered by all insurance providers. However, there are resources available to assist patients in accessing testing, such as genetic counseling and advocacy organizations.

    For more information about hereditary AT deficiency, its causes, inheritance pattern, and associated diseases, you can visit resources like OMIM, PubMed, and the Genetic and Rare Diseases Information Center.

    Research studies and clinical trials may also provide additional information and support for individuals with hereditary AT deficiency. ClinicalTrials.gov is a valuable resource for finding studies related to this condition and potential treatment options.

    By learning more about the genetic basis of hereditary AT deficiency, individuals and healthcare providers can develop better strategies for diagnosis, treatment, and prevention of blood clots.

    References:

    • OMIM: https://www.omim.org/
    • PubMed: https://pubmed.ncbi.nlm.nih.gov/
    • ClinicalTrials.gov: https://www.clinicaltrials.gov/
    • Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/

    Genetic and Rare Diseases Information Center

    The Genetic and Rare Diseases Information Center is an authoritative source of information on hereditary antithrombin deficiency, a rare genetic condition. Antithrombin deficiency refers to a condition in which the body does not produce enough of a protein called antithrombin, which helps prevent blood clots from forming in the bloodstream.

    Patients with hereditary antithrombin deficiency are at an increased risk of developing blood clots, which can lead to serious health problems such as deep vein thrombosis and pulmonary embolism.

    At the Genetic and Rare Diseases Information Center, you can learn more about this condition, its causes, and inheritance patterns. We provide information on other genetic and rare diseases as well, so you can find resources and support for a variety of conditions.

    Our website includes articles, clinical trials information from ClinicalTrials.gov, genetic advocacy organizations, and scientific studies from PubMed. You can search our Genetic and Rare Diseases Information Center to find additional references on hereditary antithrombin deficiency and related conditions.

    Frequency: Hereditary antithrombin deficiency is a rare condition, with a reported frequency of less than 1 in 2,000 individuals.

    Genetic inheritance: Hereditary antithrombin deficiency is inherited in an autosomal dominant manner, which means that a person only needs to inherit one affected gene from either parent in order to develop the condition.

    Genes associated with hereditary antithrombin deficiency
    Gene Protein
    SERPINC1 Antithrombin

    Visit our website to learn more about hereditary antithrombin deficiency and its associated genes.

    Patient Support and Advocacy Resources

    Living with a rare genetic condition like hereditary antithrombin deficiency can be overwhelming. However, there are resources available to provide support and advocacy for patients and their families.

    Advocacy Organizations

    Advocacy organizations play a crucial role in raising awareness about hereditary antithrombin deficiency and other rare genetic diseases. They work to promote research, improve diagnosis and treatment options, and offer support to affected individuals and families. Some notable advocacy organizations for hereditary antithrombin deficiency include:

    • MORE (My Organization for Rare Diseases) – MORE is an organization that focuses on advocating for individuals with rare diseases, including hereditary antithrombin deficiency. They offer resources, support, and information about research studies and clinical trials.
    • Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information about rare genetic diseases. Their website offers information about hereditary antithrombin deficiency, including symptoms, causes, inheritance patterns, and available resources.
    • Rare Diseases Clinical Research Network (RDCRN) – RDCRN is a network of research centers working together to improve diagnosis and treatment for rare diseases. They conduct research studies and clinical trials on hereditary antithrombin deficiency and other rare genetic conditions.

    Scientific Research and Information

    Staying informed about the latest scientific research and information on hereditary antithrombin deficiency can empower patients and their families to make informed decisions about their health. Here are some resources for accessing scientific research and information:

    • PubMed – PubMed is a database of scientific articles from various disciplines, including genetics and hematology. It can be used to search for research studies and publications related to hereditary antithrombin deficiency.
    • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the genetics, inheritance patterns, and clinical features of hereditary antithrombin deficiency.

    Genetic Testing and Inheritance Information

    Genetic testing and understanding the inheritance pattern of hereditary antithrombin deficiency are important for individuals and families affected by this condition. Here are some resources for genetic testing and inheritance information:

    • Genetic Testing Registry – The Genetic Testing Registry provides information about genetic tests for various genetic conditions, including hereditary antithrombin deficiency. It includes information about the test name, gene, and associated proteins.
    • GeneReviews – GeneReviews provides expert-authored, peer-reviewed articles on various genetic diseases. It offers information about the condition, inheritance, genetic testing, and management of hereditary antithrombin deficiency.

    Additional Resources

    In addition to the resources mentioned above, there are several other sources of information and support for individuals with hereditary antithrombin deficiency:

    • ClinicalTrials.gov – ClinicalTrials.gov is a comprehensive database of ongoing clinical trials for various diseases, including hereditary antithrombin deficiency. It provides information about recruiting trials and their locations.
    • Patient Support Organizations – Patient support organizations specific to hereditary antithrombin deficiency can offer additional resources, educational materials, and support networks for affected individuals and families.
    • References – References cited in scientific articles and publications on hereditary antithrombin deficiency can provide further information and sources for exploring the topic in detail.

    By utilizing these patient support and advocacy resources, individuals and families affected by hereditary antithrombin deficiency can learn more about the condition, access genetic testing, stay informed about the latest research, and connect with others facing similar challenges.

    Research Studies from ClinicalTrialsgov

    Research studies on hereditary antithrombin deficiency are being conducted at various centers to understand the frequency and genetic basis of this condition, as well as its associated complications and possible treatments. These studies aim to improve our understanding of the proteins and genes involved in clotting disorders and to develop better diagnostic and therapeutic approaches.

    One such center conducting research on hereditary antithrombin deficiency is ClinicalTrialsgov. ClinicalTrialsgov is a comprehensive catalog of clinical studies and research articles on various diseases and conditions, including genetic disorders.

    Patients with hereditary antithrombin deficiency can participate in ongoing clinical trials to learn more about the causes and inheritance patterns of this rare genetic condition. These studies also provide additional resources and support for patients and their families.

    The research studies on hereditary antithrombin deficiency listed on ClinicalTrialsgov provide valuable scientific information and references for healthcare professionals and researchers. They aim to identify the genetic causes and associated complications of this condition, as well as develop better diagnostic testing and treatment options.

    Studies on hereditary antithrombin deficiency also focus on understanding the increased risk of blood clots in affected individuals and developing strategies to prevent and manage these clots. The information obtained from these studies can help improve patient care and outcomes.

    Additionally, advocacy groups and organizations dedicated to genetic diseases, such as the National Organization for Rare Disorders (NORD), provide resources and support for patients and families affected by hereditary antithrombin deficiency. These organizations promote awareness, provide educational materials, and facilitate research funding to further our understanding of this condition.

    In conclusion, research studies on hereditary antithrombin deficiency conducted through ClinicalTrialsgov and other scientific centers are essential for advancing our knowledge about this rare genetic condition. These studies aim to uncover the genetic mechanisms, inheritance patterns, and associated complications of the condition, as well as develop improved diagnostic and treatment approaches.

    Catalog of Genes and Diseases from OMIM

    The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genetic disorders and their associated genes. It serves as a valuable resource for researchers, clinicians, and patients who want to learn more about rare genetic conditions and their underlying causes.

    One rare hereditary condition documented in OMIM is Hereditary Antithrombin Deficiency. This genetic disorder is characterized by a deficiency in the antithrombin protein, which plays a vital role in preventing blood clots.

    Antithrombin is responsible for inhibiting the activity of several clotting factors in the bloodstream. Therefore, a deficiency in this protein can lead to an increased risk of blood clot formation.

    OMIM provides detailed information on the genetic basis of Hereditary Antithrombin Deficiency, including the associated gene (SERPINC1) and the inheritance pattern (autosomal dominant). Additionally, it offers insights into the clinical features and frequency of the condition, along with resources for genetic testing and research studies.

    The OMIM database contains references to scientific articles, clinical trials registered in ClinicalTrials.gov, and advocacy organizations that provide support and information for patients and families affected by Hereditary Antithrombin Deficiency.

    For researchers and clinicians, OMIM serves as a valuable tool for staying updated with the latest advancements in the field of genetic research. It provides a centralized platform to access information on genes, diseases, inheritance patterns, and associated clinical features.

    The Catalog of Genes and Diseases from OMIM offers a comprehensive compilation of rare genetic conditions, including Hereditary Antithrombin Deficiency. It serves as a valuable resource for scientists, healthcare professionals, and patients seeking to learn more about the causes, inheritance, and clinical aspects of this condition.

    References:

    • OMIM: Hereditary Antithrombin Deficiency.
    • PubMed: Scientific articles on Hereditary Antithrombin Deficiency.
    • ClinicalTrials.gov: Research studies and clinical trials on Hereditary Antithrombin Deficiency.

    Scientific Articles on PubMed

    Hereditary antithrombin deficiency is a rare genetic condition that causes a patient’s bloodstream to have an increased clotting tendency. This condition is caused by mutations in the SERPINC1 gene, which leads to a deficiency in the antithrombin protein.

    Research on hereditary antithrombin deficiency has led to the development of clinical trials and other studies to learn more about this rare disease. PubMed, a resource provided by the National Center for Biotechnology Information (NCBI), has a catalog of scientific articles and research studies on this topic.

    Scientific articles on PubMed provide valuable information about the frequency, inheritance patterns, and clinical characteristics of hereditary antithrombin deficiency. These articles also offer insights into the genetic basis of the condition and the associated risk of developing blood clots.

    By studying these articles and research studies, scientists and healthcare professionals can learn more about hereditary antithrombin deficiency and develop better testing, treatment, and support resources for patients with this condition.

    For additional information, resources, and support related to hereditary antithrombin deficiency, one can also refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on the genes, clinical characteristics, and associated conditions of this rare genetic disorder.

    Advocacy organizations and centers specializing in rare diseases may also have additional information and support for individuals affected by hereditary antithrombin deficiency.

    References:

    1. PubMed – https://pubmed.ncbi.nlm.nih.gov/
    2. OMIM – https://www.omim.org/
    3. ClinicalTrials.gov – https://clinicaltrials.gov/

    References

    Here is a list of references where you can learn more about hereditary antithrombin deficiency:

    • OMIM: A comprehensive database that provides information about genes and genetic diseases. You can find more information about hereditary antithrombin deficiency by searching for the gene name “SERPINC1” or the condition name “Hereditary Antithrombin Deficiency.” (https://www.omim.org)
    • ClinicalTrials.gov: A resource that gives information about clinical studies related to hereditary antithrombin deficiency. You can find more details about ongoing research, studies, and patient support on this website. (https://clinicaltrials.gov)
    • PubMed: A database that provides articles from scientific journals. You can search for more articles on hereditary antithrombin deficiency to develop a better understanding of the condition. (https://pubmed.ncbi.nlm.nih.gov/)
    • Genetic and Rare Diseases Information Center (GARD): GARD provides resources and information on rare genetic diseases. You can find more information about hereditary antithrombin deficiency on their website. (https://rarediseases.info.nih.gov/diseases)
    • National Organization for Rare Disorders (NORD): NORD provides advocacy and support for patients with rare diseases. You can find additional information about hereditary antithrombin deficiency on their website. (https://rarediseases.org)
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.