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Protein S deficiency is a rare genetic condition associated with altered genes that affect the clotting proteins in the bloodstream. This condition can lead to severe clotting disorders, such as thrombosis, purpura, and other related diseases. Protein S deficiency is caused by mutations in the gene, PROS1, and it is inherited in an autosomal dominant manner.

Protein S is one of the key proteins in the clotting system, and it plays a crucial role in preventing blood clots from forming in the bloodstream. Individuals with protein S deficiency have lower levels of this protein, making them more susceptible to developing blood clots.

Protein S deficiency can manifest at any age and may lead to both arterial and venous blood clots. The frequency of this condition in the general population is relatively low, with estimates ranging from 1 in 20,000 to 1 in 300,000 individuals. However, the exact frequency is not well known.

For more information about protein S deficiency, the OMIM catalog and the PubMed database provide additional scientific articles and references. The Genetic Testing Registry can also provide information on genetic testing options for this condition.

This article is provided for informational purposes only and does not substitute professional medical advice. Consult a healthcare provider for more information about protein S deficiency and related support resources.

Frequency

Protein S deficiency is a relatively rare genetic condition that affects the protein responsible for regulating blood clotting. The frequency of protein S deficiency varies among different populations. It has been estimated that the condition affects approximately 1 in 20,000 people worldwide.

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Protein S deficiency can lead to an increased risk of developing severe blood clotting disorders, such as deep vein thrombosis (DVT) or pulmonary embolism. The severity and frequency of clotting events can vary among individuals with protein S deficiency.

The frequency of protein S deficiency can be altered by various factors, including genetic mutations and other inherited diseases. Mutations in the gene that produces protein S can cause the deficiency, and these mutations can be inherited in an autosomal dominant or recessive manner.

There are resources available for testing and learning more about the frequency and inheritance of protein S deficiency. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genes, genetic conditions, and associated mutations. The National Center for Biotechnology Information’s PubMed database has articles and scientific references on this condition.

Support and advocacy organizations for protein S deficiency can also provide information and resources for patients and their families. These organizations can help individuals learn more about the condition, develop support networks, and find additional resources.

In summary, protein S deficiency is a rare genetic condition that can cause altered clotting in the bloodstream. The frequency of protein S deficiency varies among different populations, and it can be inherited in an autosomal dominant or recessive manner. Resources such as OMIM and PubMed provide information and scientific references on this condition, and support organizations can offer additional support and information.

Causes

Protein S deficiency is a rare genetic condition that affects the clotting proteins in the bloodstream. It is often inherited from parents who carry the altered gene.

Protein S is one of the proteins that helps regulate blood clotting. It works in conjunction with other proteins to prevent excessive blood clotting in the body. When there is a deficiency of protein S, the blood is more prone to clotting, leading to an increased risk of developing blood clots in the veins. This can result in conditions such as deep vein thrombosis (DVT) or pulmonary embolism.

The exact frequency of protein S deficiency is not well known, but it is considered a rare condition. It is estimated to occur in about 1 in 20,000 individuals.

Protein S deficiency can be diagnosed through laboratory testing. This may involve measuring the levels of protein S in the blood or testing for genetic mutations in the PROS1 gene, which provides instructions for making protein S.

There are several known causes of protein S deficiency:

  1. Genetic mutations: Inherited mutations in the PROS1 gene can result in protein S deficiency. These mutations can alter the structure or function of protein S, leading to a decreased level or impaired activity of the protein.
  2. Other genetic conditions: Protein S deficiency can also be associated with other genetic disorders, such as antiphospholipid syndrome or thrombotic thrombocytopenic purpura.
  3. Acquired conditions: Certain medical conditions, such as liver disease or vitamin K deficiency, can cause a temporary decrease in protein S levels.
  4. Medications: Some medications, such as warfarin or oral contraceptives, can interfere with the body’s production or function of protein S.

It is important for individuals with protein S deficiency to work closely with healthcare professionals who specialize in clotting disorders. This includes regular monitoring and management of their condition to reduce the risk of clotting events.

For more information on protein S deficiency, including genetic inheritance patterns, associated diseases, and additional resources, you can visit the following references:

  • OMIM: A catalog of human genes and genetic disorders, with additional information on protein S deficiency.
  • PubMed: A scientific database with articles and research papers on protein S deficiency and related topics.
  • National Hemophilia Foundation: A patient advocacy and support center for individuals with clotting disorders.
  • Learn About Clotting Disorders: An online resource providing information on various clotting disorders, including protein S deficiency.

Learn more about the gene associated with Protein S deficiency

Protein S deficiency is a rare condition characterized by a decreased level or dysfunction of protein S in the bloodstream. Protein S is a natural anticoagulant protein that plays a crucial role in preventing excessive blood clotting.

See also  Amelogenesis imperfecta

Protein S deficiency can be caused by mutations in the PROS1 gene. The PROS1 gene provides instructions for making the protein S. Mutations in this gene can result in a decreased production of protein S or an altered protein structure, leading to a deficiency in its anticoagulant activity.

This genetic condition can be inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent in order to develop the deficiency. However, in some cases, the condition can also occur sporadically, without any family history of the disorder.

If you or your loved one is affected by Protein S deficiency, it is important to consult with a genetic counselor or healthcare provider for additional information about this condition and genetic testing options. Genetic testing can help determine the specific mutations in the PROS1 gene and provide valuable insight into the inheritance pattern and potential risks for other family members.

There are several resources available for support, information, and advocacy on rare genetic diseases like Protein S deficiency. The Genetic and Rare Diseases Information Center (GARD), OMIM (Online Mendelian Inheritance in Man), and PubMed are valuable sources of scientific articles, genetic databases, and references on the topic. These resources can provide you with updated information about the condition, genetic mutations associated with it, and available treatment options.

Additionally, there are advocacy groups and patient support organizations that can provide support and resources for individuals and families affected by Protein S deficiency. These organizations can offer guidance, educational materials, and connections to medical professionals specializing in the condition.

By learning more about the gene associated with Protein S deficiency and staying informed about the latest research, you can better understand the condition, its causes, and potential treatment options. This knowledge can empower you to make informed decisions and seek appropriate medical care.

Inheritance

Protein S deficiency is an inherited condition that affects the clotting process in the bloodstream. It is caused by mutations in the PROS1 gene, which provides instructions for making the protein S. Protein S is one of several proteins involved in regulating blood clot formation and breakdown.

Protein S deficiency follows an autosomal dominant inheritance pattern, meaning that a person with one altered copy of the PROS1 gene in each cell is affected. In most cases, an affected person inherits the altered gene from one affected parent. However, in rare cases, protein S deficiency can occur as a result of new mutations in the PROS1 gene.

Protein S deficiency is associated with an increased risk of developing abnormal blood clots, also known as thrombosis. The frequency of protein S deficiency in the general population is about 1 in 20,000. However, the frequency may be higher in certain populations with a higher prevalence of thrombosis.

It is important to note that not all individuals with protein S deficiency will develop abnormal blood clots. The risk of thrombosis can be influenced by additional genetic and environmental factors.

For more information about protein S deficiency, its associated diseases, and genetic testing resources, the following references and resources can be consulted:

  1. OMIM: This catalog of human genes and genetic disorders provides detailed information on the genetic basis of protein S deficiency.
  2. PubMed: This scientific database contains articles on various aspects of protein S deficiency, including its inheritance, clinical presentation, and management.
  3. Genetic advocacy and support organizations: These organizations provide support and information for patients and families affected by protein S deficiency and other genetic conditions.
  4. Center for Disease Control and Prevention (CDC): The CDC website contains information and resources on blood clotting disorders, including protein S deficiency.

By learning more about protein S deficiency and its inheritance, individuals and healthcare professionals can better understand the condition and provide appropriate support and care for patients.

Other Names for This Condition

Protein S deficiency, also known as clotting condition, is also called altered protein S and has several other names in scientific literature, PubMed, and other resources. Some of the other names for this condition include:

  • Protein S deficiency
  • Deficiency of protein S
  • Protein S deficiency, autosomal dominant
  • Protein S deficiency, autosomal recessive
  • Purpura, thromb
  • Protein S deficiency with other diseases

The frequency of this condition is rare, with severe mutations associated with a more severe clotting condition. Protein S deficiency is a genetic disorder caused by mutations in the protein S gene. This condition causes a decrease in the protein S level in the bloodstream, leading to an increased risk of clotting.

For more information on protein S deficiency and testing options, you can visit the OMIM catalog, a resource center for genetic information. Additional support and advocacy resources can be found through genetic advocacy organizations. To learn more about protein S deficiency and related genes, you can refer to scientific articles and references.

Additional Information Resources

Protein S deficiency is a condition that affects the bloodstream’s ability to clot properly. If you or someone you know has been diagnosed with this condition, it is essential to seek additional support and information to better understand and manage the condition. Here are some resources that provide additional information about Protein S deficiency:

  • National Center for Advancing Translational Sciences (NCATS) – NCATS provides comprehensive information on Protein S deficiency, including its genetic inheritance, frequency, and causes. Visit their website to learn more about this condition and find scientific references, genetic testing information, and other related resources.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information about Protein S deficiency, including its associated genes, mutations, and more. Visit OMIM to learn about the altered protein and its impact on clotting diseases.
  • PubMed – PubMed is a database of scientific articles and publications. You can search for articles related to Protein S deficiency to gain a deeper understanding of the condition and its associated proteins.
See also  PNKP gene

In addition to these scientific resources, there are also advocacy organizations that can provide support and information for individuals and families affected by Protein S deficiency. These organizations include:

  • Genetic and Rare Diseases Information Center (GARD) – GARD offers information, resources, and patient support for rare genetic conditions such as Protein S deficiency. They provide educational materials, links to support groups, and information about ongoing research and clinical trials.
  • National Blood Clot Alliance – This organization focuses on raising awareness about blood clotting disorders, including Protein S deficiency. They offer resources and support for individuals living with the condition and their families, as well as information on diagnosis, treatment, and prevention.
  • Thrombosis UK – Thrombosis UK is a charity that provides support, resources, and advocacy for individuals affected by blood clotting conditions, including Protein S deficiency. They aim to raise awareness about these conditions and improve the lives of patients through education and research.

By accessing these additional information resources, you can learn more about Protein S deficiency, its symptoms, diagnosis, and treatment options. It is important to stay informed and connected to the larger community to better manage and cope with this condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Protein S deficiency. This condition is caused by mutations in the PROS1 gene, which plays a crucial role in the production of a protein called Protein S. Protein S helps regulate blood clotting in the bloodstream, and mutations in the PROS1 gene can lead to a deficiency of this protein.

Protein S deficiency is a rare genetic condition, and there are several different genetic mutations that can cause it. The severity of the condition can vary depending on the specific genetic mutation involved.

Genetic testing for Protein S deficiency can provide valuable information about a patient’s specific gene mutation, the inheritance pattern, and the risk of developing associated diseases such as deep vein thrombosis or purpura fulminans.

By identifying the specific genetic mutations associated with Protein S deficiency, genetic testing can support the development of targeted treatments and provide important information for patient management. It can also help identify individuals who may be at risk of developing the condition and allow for early interventions.

There are several resources available for genetic testing and information about Protein S deficiency. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific articles and references on the topic. The Protein S Deficiency Information Catalog, maintained by the Genetic Support Foundation, offers additional information and resources.

Resource Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive database of genetic disorders and associated genes
PubMed A database of scientific articles and research publications
Protein S Deficiency Information Catalog A collection of information and resources on Protein S deficiency
Genetic Support Foundation An advocacy organization that provides support and information for individuals with genetic disorders

In conclusion, genetic testing is a valuable tool for diagnosing and understanding Protein S deficiency. By identifying the specific genetic mutations associated with this condition, genetic testing can provide important information for patient management, support the development of targeted treatments, and help identify individuals at risk. There are various resources available for additional information and support.

Genetic and Rare Diseases Information Center

Protein S deficiency is a rare genetic condition associated with alterations in the protein S gene. Protein S is a type of protein that plays a crucial role in the clotting process of the bloodstream. Mutations in the protein S gene can lead to a decrease in the production or function of protein S, which can increase the risk of developing blood clots.

Protein S deficiency can be inherited in an autosomal dominant or recessive manner, depending on the specific gene mutation. Individuals with protein S deficiency have a higher risk of developing blood clots, which can lead to various complications such as deep vein thrombosis, pulmonary embolism, and purpura.

The exact causes of protein S deficiency are still not fully understood. However, researchers believe that both genetic and environmental factors may contribute to the development of this condition. Additional research is needed to determine the precise mechanisms underlying protein S deficiency and its inheritance patterns.

For more information about protein S deficiency, you can visit the Genetic and Rare Diseases Information Center (GARD) website. GARD provides comprehensive resources on various genetic diseases, including articles, patient support, advocacy groups, and scientific references. You can also find information about protein S deficiency on PubMed, OMIM, and other scientific catalogs.

Testing for protein S deficiency involves analyzing the genes responsible for protein S production and function. Genetic testing can help diagnose the condition and determine the frequency of mutations in affected individuals. It is important to consult with a healthcare professional to learn more about the testing process and its implications.

Support groups and advocacy organizations can offer additional information, resources, and support for individuals and families affected by protein S deficiency. They can provide valuable insights into managing the condition and connecting with others who share similar experiences.

In summary, protein S deficiency is a rare genetic condition associated with altered proteins involved in the clotting process of the bloodstream. It can increase the risk of developing blood clots and lead to severe complications. The Genetic and Rare Diseases Information Center (GARD) offers valuable resources and support for individuals seeking information about this condition.

Patient Support and Advocacy Resources

Protein S deficiency is a genetic condition that affects the clotting protein called protein S. This condition is associated with an increased risk of abnormal blood clotting, also known as thrombosis. If you or someone you know has been diagnosed with protein S deficiency, there are resources available to provide support and advocacy.

Support Centers and Advocacy Organizations

There are several support centers and advocacy organizations that focus on rare genetic conditions like protein S deficiency. These organizations offer resources and support for patients and their families, including educational materials, support groups, and assistance with accessing medical care.

  • Protein S Deficiency Center – This center provides scientific and educational resources about protein S deficiency, including information on genetic testing, inheritance patterns, and more. They also offer support for individuals with the condition and their families.
  • Genetic and Rare Diseases Information Center – This center, run by the National Institutes of Health (NIH), provides information on protein S deficiency and other rare diseases. They offer a comprehensive catalog of articles and resources for patients and their families.
  • Protein S Deficiency Advocacy Organization – This advocacy organization works to raise awareness about protein S deficiency and advocate for better patient care. They provide information on the condition, resources for patients, and opportunities for individuals to get involved in advocacy efforts.
See also  ALG12 gene

Genetic Testing and Inheritance

Genetic testing can determine if someone has protein S deficiency and identify mutations in the gene that causes the condition. Testing may also be done to determine the genetic inheritance of the condition, as protein S deficiency can be inherited in an autosomal dominant or recessive manner.

Additional Information and References

For more information about protein S deficiency, its causes, and associated conditions, there are several reliable sources to consult:

  1. Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database of genetic conditions and their associated genes. They provide detailed information on protein S deficiency and references to scientific articles and studies.
  2. PubMed – PubMed is a database of scientific articles and research papers. Searching for “protein S deficiency” or related keywords will yield a wealth of information on the condition and its current research.

It is important to stay informed about protein S deficiency and be proactive in managing the condition. By utilizing patient support and advocacy resources, seeking genetic testing, and staying up to date with the latest information, individuals with protein S deficiency can better understand and manage their condition.

Catalog of Genes and Diseases from OMIM

Protein S deficiency is a rare genetic condition that causes altered clotting in the bloodstream. It can lead to the development of severe blood clots, a condition known as thrombosis. The main gene associated with this condition is the PROS1 gene, which provides instructions for making the protein S. Protein S plays a crucial role in regulating blood clotting and preventing excessive clotting.

Patient with protein S deficiency have a decreased amount or function of protein S, increasing the risk of blood clots. This condition is inherited in an autosomal dominant manner, which means that a person with one copy of the mutated PROS1 gene will develop the condition. However, there are cases where the condition can be acquired due to other factors.

Protein S deficiency has different names and synonyms like hereditary thrombophilic syndrome due to protein S deficiency, and deformed epidermal autoregulatory factor-1 deficiency. It is also associated with other clotting disorders such as neonatal purpura fulminans.

Additional information about protein S deficiency and its associated genes can be found on OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that provides scientific information about genes and genetic conditions. It catalogues genes and diseases, providing detailed information on their inheritance patterns, mutations, and associated proteins.

OMIM provides resources for learning about protein S deficiency, including articles and references from scientific literature. These resources support patient advocacy and provide valuable information for research and testing.

To learn more about protein S deficiency and other genetic diseases, visit OMIM’s website at https://www.omim.org.

References:

  • Gene: PROS1 Gene Catalog – https://www.omim.org/155100
  • Protein S Deficiency Catalog – https://www.omim.org/176880
  • Thrombophilia Due to Protein S Deficiency Catalog – https://www.omim.org/612336

Related articles:

  1. “Protein S deficiency” on PubMed – https://pubmed.ncbi.nlm.nih.gov/?term=protein+s+deficiency

  2. “Protein S deficiency and thrombophilia” on PubMed – https://pubmed.ncbi.nlm.nih.gov/?term=protein+s+deficiency+thrombophilia

Scientific Articles on PubMed

Protein S deficiency is a rare genetic condition associated with alterations in the protein S gene. Protein S is one of the proteins involved in the clotting process in the bloodstream. Mutations in the protein S gene can lead to a decreased production or dysfunction of protein S, resulting in an increased risk of developing severe clotting disorders such as thrombosis and purpura.

Scientific articles on PubMed provide valuable information about this condition, its causes, inheritance patterns, and testing methods. These articles offer additional insights into the genetic basis of protein S deficiency and the associated diseases.

PubMed is a valuable resource for finding scientific articles on protein S deficiency. It is an online catalog of articles from various scientific journals and publications. By searching for keywords like “protein S deficiency” or related genetic names, researchers and healthcare professionals can access a wealth of information about this condition.

In addition to scientific articles, PubMed also provides links to other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM contains information about genes and genetic conditions, including protein S deficiency. This resource can aid researchers in understanding the genetic basis and inheritance patterns of the condition.

For patients and their families, scientific articles on PubMed can provide information about the frequency of protein S deficiency and its associated diseases. This knowledge can help individuals understand the condition better and seek appropriate support and advocacy resources.

Learning more about the genetic mutations associated with protein S deficiency is crucial for developing effective testing methods and treatment strategies. Scientific articles on PubMed can provide the necessary information for researchers and healthcare professionals to advance these efforts.

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