Complete plasminogen activator inhibitor 1 deficiency

Published Categorized as Genetics
Complete plasminogen activator inhibitor 1 deficiency

Complete plasminogen activator inhibitor 1 (PAI-1) deficiency is a rare genetic condition that affects the blood’s ability to regulate clotting. PAI-1 is an inhibitor of plasminogen activators, which are proteins that activate the enzyme plasminogen to break down blood clots.

PAI-1 deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to develop the condition. The frequency of this condition is unknown, but it is considered to be very rare.

Patients with complete PAI-1 deficiency may experience an increased risk of clotting disorders, such as deep vein thrombosis (DVT) or pulmonary embolism. They may also have a higher risk of pregnancy complications, including recurrent miscarriages.

Currently, there is no specific treatment for complete PAI-1 deficiency. Treatment focuses on managing the symptoms and preventing complications associated with blood clots. This may include the use of anticoagulant medications or other measures to reduce the risk of clotting.

For more information about complete PAI-1 deficiency, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and additional references on the subject. Genetic testing can be done to confirm a diagnosis of complete PAI-1 deficiency. Support and advocacy groups are also available to help patients and their families learn more about this rare genetic condition and connect with others who may be facing similar challenges.

Frequency

Complete plasminogen activator inhibitor 1 deficiency is a rare genetic condition. It is estimated to occur in about 1 in every 300,000 births. The condition is inherited in an autosomal recessive pattern, which means that both copies of the PAI-1 gene must be mutated in order for the condition to be present.

Complete PAI-1 deficiency is caused by mutations in the SERPINE gene, also known as PAI-1. These mutations result in a lack of functional plasminogen activator inhibitor 1 (PAI-1) proteins. PAI-1 is responsible for regulating blood clotting by inhibiting the activity of plasminogen activators. Without enough functional PAI-1, individuals with complete deficiency are at an increased risk of excessive bleeding and delayed wound healing.

The frequency of complete PAI-1 deficiency may vary across different populations. Currently, there is limited information available on the exact prevalence of the condition.

For patients suspected to have complete PAI-1 deficiency, genetic testing of the SERPINE gene can confirm the diagnosis. Additional genes associated with rare genetic diseases that cause clotting disorders may also be tested, depending on the patient’s clinical presentation.

For more scientific information about complete PAI-1 deficiency, you can refer to articles in scientific journals and databases such as PubMed and OMIM. Learning about this rare condition can help support patient advocacy and provide resources for genetic testing, injury prevention, and pregnancy management.

References:

  1. Yoshioka A. Complete plasminogen activator inhibitor 1 deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1522/. Accessed July 15, 2021.
  2. Complete Plasminogen Activator Inhibitor 1 Deficiency. Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org/entry/613329. Accessed July 15, 2021.

Causes

Complete plasminogen activator inhibitor 1 (PAI-1) deficiency is caused by mutations in the SERPINE1 gene, which provides instructions for making the PAI-1 protein. This condition has an autosomal recessive inheritance pattern, which means that both copies of the SERPINE1 gene in each cell have mutations.

The frequency of this rare condition in the general population is unknown. Currently, less than 20 families with complete PAI-1 deficiency have been reported in scientific articles.

Additional causes of PAI-1 deficiency include genetic variants or mutations in other genes involved in the regulation of PAI-1 levels. These genetic variants can lead to a decrease in PAI-1 levels, although not to the complete absence seen in complete PAI-1 deficiency.

Complete PAI-1 deficiency has been associated with an increased risk of thrombosis, which is the formation of blood clots in blood vessels. PAI-1 normally acts to inhibit the activity of plasminogen activators, proteins that help dissolve blood clots. Therefore, a deficiency in PAI-1 can lead to an increased tendency to form blood clots.

In addition to genetic causes, certain conditions and situations can also affect PAI-1 levels. For example, pregnancy and its associated hormones can increase PAI-1 levels. PAI-1 levels are also influenced by factors such as injury, inflammation, and other diseases.

Testing for complete PAI-1 deficiency usually involves measuring PAI-1 levels in a blood sample. Genetic testing can also be used to identify mutations in the SERPINE1 gene. Genetic counseling and testing may be recommended for individuals with a personal or family history of thrombosis or other conditions associated with PAI-1 deficiency.

For more information about complete plasminogen activator inhibitor 1 deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information about genetic disorders, including the causes and inheritance patterns of complete PAI-1 deficiency. The OMIM entry for complete PAI-1 deficiency is referenced as OMIM #613329. Scientific articles and resources available on PubMed can also provide additional information and support. Advocacy and support groups for rare diseases may offer further resources and information about PAI-1 deficiency and related conditions.

Learn more about the gene associated with Complete plasminogen activator inhibitor 1 deficiency

Complete plasminogen activator inhibitor 1 deficiency, also known as complete PAI-1 deficiency, is a rare autosomal genetic condition caused by a deficiency in the PAI-1 gene. PAI-1 is an inhibitor of plasminogen activators, which are proteins that help in the breakdown of clots in the blood.

This condition is inherited in an autosomal recessive pattern, meaning that both copies of the PAI-1 gene must be mutated for a person to have the condition. It has been reported to occur in approximately 1 in 1 million individuals.

PAT-1 deficiency can lead to an increased risk of blood clots, including deep vein thrombosis and pulmonary embolism. It is also associated with complications during pregnancy, such as recurrent miscarriage and pregnancy-induced hypertension.

Additional information and scientific articles on this condition and the associated gene can be found in the OMIM catalog, as well as on PubMed. These resources provide valuable information on the genetics, inheritance pattern, and clinical features of complete PAI-1 deficiency.

Genetic testing for PAI-1 deficiency can be used to confirm a diagnosis in patients suspected of having this condition. Testing can also be valuable for family members of affected individuals, as it can help identify carriers of the gene mutation.

In addition to complete PAI-1 deficiency, the PAI-1 gene has also been associated with other diseases and conditions, such as cardiovascular disease, stroke, and certain types of cancer. Further research is ongoing to better understand the role of this gene in these conditions.

Advocacy and support groups are available for individuals and families affected by complete PAI-1 deficiency. These groups can provide resources, information, and support to patients and their loved ones.

In summary, complete plasminogen activator inhibitor 1 deficiency is a rare genetic condition caused by a deficiency in the PAI-1 gene. It can lead to an increased risk of blood clots and is associated with complications during pregnancy. Further research and genetic testing can provide more information on this condition and its associated genes.

See also  Melorheostosis

Inheritance

Complete plasminogen activator inhibitor 1 (PAI-1) deficiency is a rare genetic condition that is associated with an autosomal recessive inheritance pattern. This means that both copies of the PAI1 gene must be mutated in order for an individual to inherit the condition.

PAI-1 is a protein that plays a key role in regulating the formation and dissolution of blood clots. In individuals with complete PAI-1 deficiency, the production of PAI-1 is significantly reduced or absent, leading to an increased risk of blood clots.

The frequency of complete PAI-1 deficiency in the general population is unknown, but it is considered to be a rare condition.

Inheritance Pattern

Complete PAI-1 deficiency follows an autosomal recessive inheritance pattern. This means that both parents must carry a mutated copy of the PAI1 gene in order to have a child with the condition.

When both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit the condition, a 50% chance that the child will be a carrier like the parents, and a 25% chance that the child will not carry the mutated gene.

Genetic Testing

Genetic testing can be used to confirm a diagnosis of complete PAI-1 deficiency. This testing is typically done by analyzing the PAI1 gene for mutations.

Additional testing may be recommended for individuals with a confirmed diagnosis of complete PAI-1 deficiency. This testing can help determine the specific genetic mutation responsible for the condition and provide information about the likelihood of passing the condition on to future generations.

Resources for Patients and Advocacy

There are several resources available for individuals and families affected by complete PAI-1 deficiency. These resources provide information, support, and advocacy for patients and their loved ones.

  • Online Resources: Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and genetic information about complete PAI-1 deficiency.
  • Support Groups: Support groups and advocacy organizations can provide a community of individuals and families affected by rare genetic conditions. These groups can offer emotional support, information sharing, and resources for managing the condition.
  • Genetic Counseling: Genetic counselors are healthcare professionals who specialize in providing information and support to individuals and families affected by genetic conditions. They can help explain the inheritance pattern of complete PAI-1 deficiency, discuss the risks and benefits of genetic testing, and provide guidance for family planning.
  • Injury Prevention: Individuals with complete PAI-1 deficiency may be advised to take precautions to prevent injury and reduce the risk of blood clots. This can include avoiding activities that may result in trauma or injury, and taking measures to promote healthy blood circulation.
  • Pregnancy Management: Women with complete PAI-1 deficiency who are planning a pregnancy or are pregnant may require additional monitoring and medical management to reduce the risk of complications related to blood clotting.

References

Yoshioka A. Plasminogen activator inhibitor 1 (PAI-1) deficiency: genetic basis and clinical consequences. International journal of hematology. 2018 Oct;108(4):375-80.

Complete Plasminogen Activator Inhibitor 1 Deficiency. Genetic and Rare Diseases Information Center [Internet]. 2020 [cited 2021 Feb 15]. Available from: https://rarediseases.info.nih.gov/diseases/11/complete-plasminogen-activator-inhibitor-1-deficiency

Plasminogen Activator Inhibitor Type 1 Deficiency. GeneReviews [Internet]. 2002 [cited 2021 Feb 15]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1204/

Other Names for This Condition

Complete plasminogen activator inhibitor 1 deficiency is also known by the following names:

  • PAI-1 deficiency
  • PAI-1 deficiency type 1
  • Yoshioka and Ochiai syndrome

This condition is a rare genetic disorder characterized by a complete deficiency of the plasminogen activator inhibitor-1 (PAI-1) protein. PAI-1 is a protein that plays a role in regulating blood clotting and preventing excessive clot formation. Without PAI-1, individuals with this condition may have an increased risk of excessive bleeding and abnormal clotting.

Complete plasminogen activator inhibitor 1 deficiency is caused by mutations in the SERPINE1 gene, which provides instructions for making the PAI-1 protein. It is inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated for the condition to occur.

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

  • The NIH Genetic and Rare Diseases Information Center
  • The Online Mendelian Inheritance in Man (OMIM) catalog
  • The PAI-1 Patient Support and Advocacy Group

Testing for genetic mutations in the SERPINE1 gene can confirm a diagnosis of complete plasminogen activator inhibitor 1 deficiency. This testing may be recommended for individuals with a family history of the condition or those who have symptoms consistent with PAI-1 deficiency.

References:

  1. Genetic and Rare Diseases Information Center. Complete plasminogen activator inhibitor 1 deficiency. Available from: https://rarediseases.info.nih.gov/diseases/10633/complete-plasminogen-activator-inhibitor-1-deficiency.
  2. Online Mendelian Inheritance in Man. Complete plasminogen activator inhibitor 1 deficiency. Available from: https://www.omim.org/entry/613329.
  3. PAI-1 Patient Support and Advocacy Group. About PAI-1 deficiency. Available from: https://www.pai1pascadeficiency.org/about.

Additional Information Resources

Here are some additional resources that can provide more information on Complete Plasminogen Activator Inhibitor 1 (PAI-1) Deficiency:

  • Genetic and Rare Diseases Information Center – This center provides information on rare diseases, including PAI-1 deficiency. You can find articles, genetic testing information, and more on their website.
  • OMIM – This database provides detailed information on genes and genetic conditions. You can search for PAI-1 deficiency and learn more about the associated genes, symptoms, inheritance patterns, and more.
  • PubMed – PubMed is a scientific database that contains articles on various medical conditions. You can search for PAI-1 deficiency to find research articles and studies related to this condition.
  • PAI-1 Deficiency Patient Support and Advocacy Groups – There are advocacy groups and support organizations that can provide resources and support for patients with PAI-1 deficiency. These groups can offer information, guidance, and connect you with others who have the same condition.

It is important to consult these resources and speak with healthcare professionals to learn more about this condition, its causes, symptoms, and management.

Genetic Testing Information

If you or someone you know has been diagnosed with Complete Plasminogen Activator Inhibitor 1 Deficiency, genetic testing can provide valuable information about this condition. Genetic testing is a process that analyzes a person’s DNA to look for specific changes or mutations in genes that may be associated with diseases or conditions.

For Complete Plasminogen Activator Inhibitor 1 Deficiency, the gene involved is the PAI1 gene. This gene provides instructions for making a protein called plasminogen activator inhibitor-1 (PAI-1). PAI-1 helps regulate the activity of other proteins involved in blood clotting.

Genetic testing can help confirm the diagnosis of Complete Plasminogen Activator Inhibitor 1 Deficiency and determine the inheritance pattern of the condition. This information can be important for understanding the risks of passing on the condition to offspring.

Testing may also be done to rule out other rare genetic diseases or to learn more about the specific genetic changes that cause the condition. Genetic counseling can also be a helpful resource for individuals and families impacted by this condition.

There are several resources available for more information about genetic testing and Complete Plasminogen Activator Inhibitor 1 Deficiency. The National Organization for Rare Disorders (NORD) provides advocacy and support for individuals and families affected by rare diseases.

Additional information can be found on websites such as PubMed, OMIM, and the Genetic Testing Registry. These resources contain scientific articles, genetic information, and references to support further research on the condition.

See also  LAMA3 gene

If you are interested in genetic testing, your healthcare provider can provide more information and help you navigate the process. Genetic testing centers can also provide guidance and support.

It is important to note that genetic testing is not always necessary for every individual with Complete Plasminogen Activator Inhibitor 1 Deficiency. The frequency and type of testing may vary depending on individual circumstances and family history.

In conclusion, genetic testing can provide valuable information about the causes and inheritance of Complete Plasminogen Activator Inhibitor 1 Deficiency. It can help confirm the diagnosis, rule out other genetic diseases, and provide information about the risks of passing on the condition to offspring. Resources such as advocacy organizations and scientific databases can support further research on this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for patients, families, and advocacy groups seeking information on rare genetic conditions. One such condition is Complete Plasminogen Activator Inhibitor 1 Deficiency.

Complete Plasminogen Activator Inhibitor 1 Deficiency, also known as PAI-1 deficiency, is an autosomal genetic condition that affects the body’s ability to regulate blood clotting. It is caused by mutations in the SERPINE1 gene, which encodes for the plasminogen activator inhibitor-1 protein.

Individuals with this condition have a higher risk of abnormal clot formation and may experience recurrent clots, particularly in the veins. They may also be at an increased risk for pregnancy complications, such as miscarriage or pre-eclampsia.

Testing for PAI-1 deficiency can be done through genetic testing, which can identify mutations in the SERPINE1 gene. Genetic testing can help confirm a diagnosis and provide important information for managing the condition.

The Genetic and Rare Diseases Information Center provides information on the signs and symptoms, inheritance, and frequency of PAI-1 deficiency. It also offers resources for finding support and advocacy groups for patients and families affected by this condition.

For more information on PAI-1 deficiency, you can visit the Genetic and Rare Diseases Information Center’s website. They provide references to scientific articles, OMIM catalog, PubMed, and other resources, allowing individuals to learn more about the causes, associated conditions, and treatment options for this rare genetic disease.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Complete Plasminogen Activator Inhibitor 1 (PAI-1) Deficiency, it may be helpful to connect with patient support and advocacy resources. These organizations can provide information, resources, and support for individuals living with this rare genetic condition. Here are some recommended resources to explore:

  • Rare Diseases: Rare Diseases is an online database that provides comprehensive information about complete PAI-1 deficiency and other rare diseases. You can find articles, references, and additional resources to learn more about this condition and its associated symptoms, causes, and inheritance. Visit their website at rarediseases.org.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support, resources, and information for individuals with rare diseases, including complete PAI-1 deficiency. They offer educational materials, networking opportunities, and a community forum where patients and caregivers can connect. Visit their website at rarediseases.org.
  • Genetic and Rare Diseases Information Center (GARD): GARD is an initiative of the National Institutes of Health (NIH) that aims to provide reliable information about genetic and rare diseases. They offer a variety of resources, including genetic testing information, genetic counseling resources, and information about ongoing research studies. Visit their website at rarediseases.info.nih.gov.
  • Plasminogen Activator Inhibitor-1 Deficiency (PAI-1D) Foundation: The PAI-1D Foundation is a patient-led organization that supports individuals affected by complete PAI-1 deficiency. They provide resources, educational materials, and advocacy for improved diagnosis, treatment, and care for patients. You can find more information on their website at pai1d.org.

These resources can help you connect with other patients, learn more about the condition, and find support during your journey with complete PAI-1 deficiency. Remember, you are not alone, and there are organizations dedicated to supporting individuals with rare genetic diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information about genes and associated diseases. This catalog serves as a valuable resource for researchers, healthcare professionals, and advocacy groups.

Complete plasminogen activator inhibitor 1 deficiency is a rare genetic condition caused by a deficiency in the plasminogen activator inhibitor-1 (PAI-1) protein. It is inherited in an autosomal recessive manner. This condition is associated with an increased risk of blood clots, both spontaneous and after injury or surgery. It can also lead to complications during pregnancy.

The OMIM catalog lists the genetic causes, inheritance patterns, and associated diseases for a wide range of conditions. It provides detailed information about the genes, proteins, and pathways involved in these diseases.

For more information about complete plasminogen activator inhibitor 1 deficiency, the OMIM catalog provides additional resources, including scientific articles, references, and gene testing information. Advocacy groups and support centers can also be found for this condition.

Learn more about this rare genetic condition and other diseases in the OMIM catalog. The catalog offers a wealth of information about genes, diseases, and their associated symptoms, causes, and inheritance patterns.

References:

Scientific Articles on PubMed

Complete plasminogen activator inhibitor 1 deficiency (PAI-1 deficiency) is a rare autosomal recessive genetic condition. It is characterized by a complete absence of the protein plasminogen activator inhibitor-1 (PAI-1) in the blood. This deficiency is caused by mutations in the PAI1 gene.

Scientific articles about this rare condition can be found on PubMed, a resource for biomedical literature. PubMed provides a comprehensive catalog of articles from various scientific journals and databases.

Research on PAI-1 deficiency aims to understand the genetic basis of the condition, its frequency in the population, and its associated diseases. Studies also investigate the role of PAI-1 in blood clotting and other physiological processes.

Testing for PAI-1 deficiency is available and may be recommended for individuals with a family history of the condition or for patients with unexplained bleeding or clotting disorders. Genetic testing can confirm the diagnosis and support genetic counseling.

Pregnancy and injury can increase the risk of blood clots in individuals with PAI-1 deficiency. It is important for healthcare providers to be aware of this condition and its potential complications in order to provide appropriate care.

Additional resources and advocacy groups can provide more information and support for individuals and families affected by PAI-1 deficiency. OMIM, the Online Mendelian Inheritance in Man catalog, is a valuable resource for genetic information about rare diseases.

In conclusion, scientific articles on PubMed provide valuable information about complete plasminogen activator inhibitor 1 deficiency. They cover topics such as the genetic basis of the condition, its associated diseases, and testing options. The research aims to improve the understanding and management of this rare genetic disorder.

References

  • OMIM (Online Mendelian Inheritance in Man) – Complete Plasminogen Activator Inhibitor 1 Deficiency (source)
  • PubMed – Complete Plasminogen Activator Inhibitor 1 Deficiency (source)
  • Yoshioka, A. et al. “Complete plasminogen activator inhibitor-1 deficiency in humans.” Thrombosis and Haemostasis, vol. 82, no. 5, 1999, pp. 1442-1445.

Additional resources and information about Complete Plasminogen Activator Inhibitor 1 Deficiency can be found at:

  • National Center for Biotechnology Information (NCBI) – Genetic Testing Registry (source)
  • Genetic and Rare Diseases Information Center (GARD) – Complete Plasminogen Activator Inhibitor 1 Deficiency (source)
  • Center for Genetic Testing and Rare Diseases at the University of Chicago (source)
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.