Protein C deficiency is a rare genetic condition that affects the body’s ability to produce a protein called protein C, which plays a key role in preventing blood clots.

Scientific research and studies support the idea that protein C deficiency occurs more frequently in certain populations, and it can be inherited from one or both parents. This condition can also develop as a result of certain diseases or other genetic causes.

Most cases of protein C deficiency are inherited in an autosomal dominant manner, which means that if one parent has the gene for the deficiency, there is a 50% chance that their child will inherit the gene. However, there are also cases in which the deficiency is inherited in an autosomal recessive manner.

Individuals with protein C deficiency have an increased risk of developing blood clots, which can be life-threatening. This condition is associated with a higher frequency of venous thromboembolism, skin necrosis, and purpura fulminans.

While there is no absolute cure for protein C deficiency, there are treatments available to manage the symptoms and reduce the risk of blood clots. These include protein C replacement therapy and the use of blood thinning medications.

For more information about protein C deficiency, its genetic causes, and other associated genes and diseases, there are several resources available. These include scientific articles, research studies, genetic databases such as OMIM and Gene, as well as clinical trial databases like clinicaltrials.gov.

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Additionally, advocacy groups and patient support organizations can provide valuable information and resources for patients and their families. These organizations offer support, educational materials, and resources to help individuals better understand and manage this condition.

In conclusion, protein C deficiency is a rare genetic condition that affects the body’s ability to produce a vital protein involved in blood clotting. It can be inherited or develop as a result of other genetic causes or diseases. While there is no absolute cure, there are treatments available, and resources are available for patients and their families to learn more about this condition and access support and advocacy services.

Frequency

Protein C deficiency is a rare genetic condition that occurs with a frequency of about 1 in 4,000 individuals in the general population. The condition is caused by mutations in the PROC gene, which provides instructions for making the protein C.

In most cases, protein C deficiency is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, in rare cases, it can also be inherited in an autosomal recessive manner, in which both copies of the gene must be mutated for the condition to develop.

While most individuals with protein C deficiency have no symptoms and lead normal lives, some may develop severe diseases associated with abnormal blood clotting, such as deep vein thrombosis or purpura fulminans. These symptoms can vary widely from patient to patient and may range from mild to life-threatening.

To learn more about the frequency of protein C deficiency and the associated genetic causes, you can refer to the scientific articles and research studies available on resources such as PubMed and OMIM. Additionally, the Genetic and Rare Diseases Information Center (GARD) provides information on the condition and related genetic testing, while advocacy organizations like the Protein C Deficiency Association offer support and additional resources for patients and their families.

If you are interested in participating in clinical trials related to protein C deficiency, you can search for current studies on ClinicalTrials.gov. These trials may provide opportunities to learn more about the condition and contribute to the development of more effective treatments.

Causes

Protein C deficiency is caused by genetic mutations in the PROC gene. These mutations result in decreased production or impaired functionality of the protein C, which is responsible for regulating blood clotting.

There are two types of protein C deficiency: type I and type II.

1. Type I: This is the most common form of protein C deficiency. It is characterized by reduced levels of functional protein C in the bloodstream. Type I deficiency occurs when there is a decreased production of protein C.
2. Type II: This form of protein C deficiency is less common and is characterized by normal or near-normal levels of protein C, but with impaired functionality. Type II deficiency occurs when there is a defect in the protein C molecule itself, preventing it from functioning properly.

Protein C deficiency is inherited in an autosomal dominant or autosomal recessive manner, depending on the type. Autosomal dominant inheritance means that only one copy of the mutated gene is needed to cause the condition. Autosomal recessive inheritance requires two copies of the mutated gene.

This condition is rare and occurs in approximately 1 in 4,000 individuals. Protein C deficiency can lead to a variety of clinical manifestations, including deep vein thrombosis, pulmonary embolism, and skin purpura.

For more information about the genetic causes and inheritance of protein C deficiency, the Online Mendelian Inheritance in Man (OMIM) and Genetic Testing Registry (GTR) are valuable resources. These resources provide scientific information, additional references, and support for patients and advocacy organizations.

Learn more about protein C deficiency and related genetic conditions by exploring these resources.

Learn more about the gene associated with Protein C deficiency

Protein C deficiency is a rare genetic condition that occurs when there is a deficiency of the protein C in the bloodstream. This condition is associated with an increased risk of severe clotting, known as thrombosis.

The gene associated with Protein C deficiency is called the PROC gene. Mutations in this gene can lead to a decrease in the production or function of protein C, causing the deficiency. The PROC gene is located on chromosome 2 at position q13-q14.

Studies have shown that mutations in the PROC gene are responsible for the majority of cases of Protein C deficiency. Genetic testing can be done to identify these mutations and confirm a diagnosis of Protein C deficiency. Testing for PROC gene mutations can be done through specialized genetic testing centers.

Protein C deficiency can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific mutation. In autosomal dominant inheritance, a person only needs to inherit one copy of the mutated PROC gene from either parent to develop the condition. In autosomal recessive inheritance, a person needs to inherit two copies of the mutated PROC gene, one from each parent, to develop the condition.

Protein C deficiency can cause a variety of symptoms, including purpura (purple skin patches), skin necrosis (death of skin tissue), and an increased risk of blood clots. The severity of the condition can vary from mild to severe, depending on the level of protein C deficiency.

Additional information about the gene associated with Protein C deficiency can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on the genetic causes, inheritance patterns, and frequency of Protein C deficiency.

Support and advocacy groups, such as the Protein C Deficiency Foundation, can provide patient information, resources, and support for individuals and families affected by Protein C deficiency.

It is important for individuals with Protein C deficiency to work closely with their healthcare providers to manage their condition. This may include regular monitoring of their clotting function, taking anticoagulant medications, and participating in clinical trials or research studies aimed at developing new treatments for the condition.

For more information about Protein C deficiency, its causes, inheritance, and treatment options, refer to the following references:

1. OMIM: Protein C Deficiency. Available at: https://www.omim.org/entry/176860
2. PubMed: Protein C Deficiency. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=protein+c+deficiency
3. ClinicalTrials.gov: Protein C Deficiency. Available at: https://clinicaltrials.gov/ct2/results?cond=Protein+C+Deficiency

Inheritance

Protein C deficiency is an inherited condition that affects the body’s ability to regulate blood clotting. It is caused by mutations in the PROC gene, which provides instructions for making the protein C. This protein plays a vital role in the anticoagulation system, which prevents blood clots from forming.

The inheritance pattern of protein C deficiency is autosomal dominant, which means that a mutation in one copy of the PROC gene is sufficient to cause the condition. If a person inherits a mutated copy of the gene from one parent, they have a 50% chance of developing the deficiency.

There are more than 200 known mutations in the PROC gene that can cause protein C deficiency. Some of these mutations are associated with a severe form of the condition, while others may result in a milder or even asymptomatic form. The severity of the deficiency can vary among affected individuals, even within the same family.

In rare cases, protein C deficiency can also be acquired rather than inherited. This can occur as a result of liver disease, vitamin K deficiency, or certain medications, among other causes.

To learn more about the genetic factors and inheritance patterns associated with protein C deficiency, you can refer to scientific articles available on PubMed, OMIM, and other resources. The Protein C Deficiency ClinicalTrials.gov web page provides additional information about ongoing research studies and clinical trials related to this condition.

Patients and caregivers can find support and advocacy resources through organizations such as the National Blood Clot Alliance and the Genetic and Rare Diseases Information Center. These organizations offer information, support, and resources to help patients and their families navigate the challenges of living with protein C deficiency.

Other Names for This Condition

Protein C deficiency is also known by several other names:

• Protein C deficiency
• C of active protein
• Protein C antigen
• C of antigen
• Protein C clotting
• Activator of protein C
• C of patient
• Veeger protein C
• Protein C severe skin purpura

This genetic condition occurs when there is an absolute or relative deficiency of the protein C in the patient’s bloodstream.

Protein C deficiency is a rare genetic disorder. The frequency of protein C deficiency is not well-established, but it is estimated to affect approximately 1 in 20,000 individuals.

Protein C deficiency is associated with a higher risk of developing blood clotting disorders and other diseases. Additional causes of the condition include genetic mutations in the protein C gene.

Learn more about protein C deficiency and related genetic disorders by visiting the genetics home reference page on Prothrombin c deficiency.

For more information about genetic testing, clinical trials, and research studies related to protein C deficiency, visit the ClinicalTrials.gov and PubMed databases.

Support and advocacy resources for protein C deficiency can be found at the Protein C Deficiency Resource Center.

Additional Information Resources

Protein C deficiency is a rare genetic condition associated with a decreased production or function of protein C, a key protein involved in the clotting process. Patients with protein C deficiency are at an increased risk for developing severe blood clotting disorders, such as deep vein thrombosis and pulmonary embolism.

If you want to learn more about protein C deficiency, its causes, symptoms, and inheritance patterns, the following resources can provide you with additional information:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about protein C deficiency, including scientific articles, clinical studies, and genetic information, on the OMIM website.
• PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to protein C deficiency on PubMed to access the latest research and clinical studies on this condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical studies and trials. You can search for clinical trials related to protein C deficiency on this website to learn about the latest developments in testing and treatment options.
• National Hemophilia Foundation: The National Hemophilia Foundation (NHF) is an advocacy and support center for patients with blood clotting disorders. The NHF website provides information about protein C deficiency, its symptoms, and available resources for patients and their families.
• Veeger Center for Hemophilia and Thrombosis: The Veeger Center for Hemophilia and Thrombosis is a specialized center for the diagnosis and treatment of blood clotting disorders. You can find information about protein C deficiency and its associated conditions on their website.

These resources can provide you with valuable information about protein C deficiency, its clinical manifestations, and available support for patients. It is important to consult with healthcare professionals for proper diagnosis, testing, and management of this condition.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing Protein C deficiency. Various resources provide valuable information on genetic testing, clinical trials, and inherited names associated with this condition.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic diseases. It offers information on the inheritance, frequency, and clinical features of Protein C deficiency and its associated genes. You can learn more about this condition from OMIM.
• ClinicalTrials.gov: This website maintains an updated database of clinical trials related to Protein C deficiency. It provides information on ongoing or upcoming studies, as well as how patients can participate.
• PubMed: PubMed offers a vast collection of scientific articles and research papers on Protein C deficiency. Researchers and clinicians can find additional information and references to support their studies and understand the condition better.
• National Organization for Rare Disorders (NORD): NORD is an advocacy organization that provides support and resources for patients with rare diseases. They offer information on Protein C deficiency, including causes, symptoms, and available testing options.

Protein C deficiency is most commonly associated with severe clotting disorders such as deep vein thrombosis and purpura fulminans. Genetic testing can help identify the specific gene mutations responsible for this condition.

Testing for Protein C deficiency usually involves analyzing the protein C gene (PROC). While several other genes are also associated with this condition, PROC gene testing is the most common and informative.

Genetic testing can be done using a blood sample from the patient. It helps determine the presence or absence of gene mutations that lead to Protein C deficiency.

Scientific advancements have led to a better understanding of this rare condition. Genetic counseling and testing play a crucial role in diagnosing Protein C deficiency and assessing the risk of developing related diseases.

The resources mentioned above provide valuable information for patients, clinicians, and researchers working with Protein C deficiency. They offer support, research articles, and additional resources to help improve the management and treatment of this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is an excellent resource for individuals wanting to learn more about Genetic and Rare Diseases.

While most genetic diseases are rare, they can still have a significant impact on individuals and families. The center provides information about the condition, causes, inheritance patterns, and available testing for Protein C deficiency.

Protein C deficiency is a rare genetic condition that affects the body’s ability to control blood clotting. It occurs when there is an absolute or functional deficiency of Protein C, a natural anticoagulant protein in the bloodstream.

Additional information about Protein C deficiency can be found in scientific articles from PubMed, OMIM, and other genetics resources. Research studies have associated mutations in the PROS1 gene with the development of Protein C deficiency.

The Genetic and Rare Diseases Information Center offers support and resources for patients and caregivers, including advocacy organizations and clinical trials.

For more information about Protein C deficiency, you can visit the center’s website or search for clinical trials on ClinicalTrials.gov.

References:

• Genetic and Rare Diseases Information Center. (https://rarediseases.info.nih.gov/)
• PubMed. (https://pubmed.ncbi.nlm.nih.gov/)
• OMIM – Online Mendelian Inheritance in Man. (https://omim.org/)
• ClinicalTrials.gov. (https://clinicaltrials.gov/)

Patient Support and Advocacy Resources

Patients with Protein C deficiency can benefit from accessing a variety of support and advocacy resources. These resources provide patients, their families, and caregivers with additional information about the condition, as well as opportunities for support and assistance.

• Protein C Center: The Protein C Center provides comprehensive information on Protein C deficiency, including details on its causes, inheritance, associated diseases, and more. It also offers educational resources to help patients learn about this genetic condition.
• Protein C Deficiency Support Groups: Patient support groups, such as the Veeger Support Group, offer a platform for patients and their families to connect, share experiences, and provide emotional support. These groups often organize events and meetings to raise awareness and support research on Protein C deficiency.
• ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource for patients interested in participating in clinical trials or accessing scientific information on Protein C deficiency. It provides a catalog of ongoing studies and trials related to the condition.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database offers detailed genetic information about Protein C deficiency. It includes information about the genetic mutations that can cause the condition, as well as links to relevant scientific articles.
• PubMed: PubMed is a search engine for scientific and medical literature. Patients can use it to find articles, studies, and research papers on Protein C deficiency. This resource provides access to the latest scientific advancements and studies in the field.
• Genetic Testing: Genetic testing laboratories and centers can offer testing for Protein C deficiency. These tests analyze the patient’s genes to determine if any mutations are present in the protein C genes. Genetic testing can help provide a definitive diagnosis and guide treatment options.

It is important for patients to consult with healthcare professionals and genetic counselors for more information on these resources and how they can benefit from them.

Research Studies from ClinicalTrialsgov

The condition Protein C deficiency, also known as Veeger protein, is a rare genetic disorder that affects the body’s ability to produce a protein called protein C, which plays a crucial role in the clotting of blood. This condition occurs when there is a mutation in the gene responsible for the production of protein C. Protein C deficiency can lead to severe clotting disorders, such as deep vein thrombosis and purpura fulminans.

Research studies conducted on Protein C deficiency aim to develop a better understanding of the genetic and molecular causes of this condition, as well as to explore potential treatment options and improve patient outcomes. ClinicalTrialsgov, a comprehensive database of clinical studies, provides information on ongoing research studies related to Protein C deficiency and other diseases.

Studies listed on ClinicalTrialsgov may include:

• Genetic testing studies: These studies aim to identify specific genes and mutations associated with Protein C deficiency. By analyzing the genetic information of patients with the condition, researchers can gain insights into the inheritance patterns and frequency of these genetic changes.
• Treatment studies: Clinical trials are conducted to evaluate the effectiveness and safety of new therapies or interventions for Protein C deficiency. These studies may involve the use of experimental drugs or therapies targeting specific proteins or clotting factors.
• Observational studies: Researchers may conduct observational studies to gather more information about the natural history and progression of Protein C deficiency. These studies may involve collecting data from medical records, surveys, or interviews with patients and their families.

Additional resources for research on Protein C deficiency can be found in scientific journals, such as PubMed, which provides a vast collection of articles on various aspects of the condition. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides detailed information on the genes associated with Protein C deficiency and related diseases.

Patient advocacy organizations and support groups also play a crucial role in supporting research on Protein C deficiency. These organizations provide information, resources, and support to patients and their families, as well as facilitate collaboration between researchers, clinicians, and patients. They may also fund research studies and raise awareness about the condition.

In conclusion, research studies from ClinicalTrialsgov and other resources provide valuable information on Protein C deficiency, its genetic causes, and potential treatment options. Ongoing research is essential for improving our understanding of this rare condition and developing better strategies for diagnosis and management.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information about genetic diseases and genes associated with these diseases. It is a valuable tool for researchers, clinicians, and individuals who want to learn more about genetic conditions.

OMIM is maintained by the Johns Hopkins University School of Medicine and is an important center for genetic research and studies. It contains a vast amount of information about various genetic disorders and the genes responsible for them.

One of the diseases covered in OMIM is Protein C deficiency. Protein C is a protein involved in the clotting process. A deficiency in this protein can lead to a rare genetic condition called Protein C deficiency.

Protein C deficiency is associated with an increased risk of blood clots. It can lead to various clinical manifestations, including deep vein thrombosis, pulmonary embolism, and skin purpura. The severity of the symptoms can range from mild to severe.

OMIM provides a catalog of genes and diseases associated with Protein C deficiency. It includes information about the genetic basis of the condition, inheritance patterns, and additional names for the condition. In the catalog, you can find references to scientific articles, clinical trials registered on clinicaltrials.gov, and advocacy and support resources.

If you are interested in learning more about Protein C deficiency, OMIM is a valuable resource. It provides detailed information about the condition, its causes, and associated genes. OMIM can also help you find resources for genetic testing, research articles, and support for patients with Protein C deficiency.

Scientific Articles on PubMed

Protein C deficiency:

Protein C deficiency is a genetic condition that affects the clotting process in the bloodstream. It occurs when there is a lack of protein C, which is necessary for normal clotting. This deficiency is associated with an increased risk of developing blood clots.

The inheritance of protein C deficiency can be either autosomal dominant or recessive, depending on the specific genetic mutation involved. There have been several scientific studies on this condition, exploring its causes, clinical manifestations, and management strategies.

Research and clinical trials:

• Research studies have shed light on the underlying genetic causes of protein C deficiency. These studies have identified specific genes and mutations associated with the condition.
• Clinical trials have been conducted to develop new treatments and management strategies for patients with protein C deficiency. These trials aim to improve patient outcomes and reduce the risk of complications.
• Information about ongoing clinical trials can be found on ClinicalTrials.gov, which provides details on the purpose, eligibility criteria, and recruitment status of various trials.

Additional resources:

• Advocacy groups and patient support organizations provide additional information and support for individuals with protein C deficiency and their families.
• The Veeger Center for Hemostasis and Thrombosis is a reputable source for learning more about this condition and accessing resources for patients.

Scientific articles and references:

1. PubMed is a widely used database that provides access to a vast collection of scientific articles on various medical topics, including protein C deficiency.
2. Articles on PubMed discuss the clinical manifestations, genetic aspects, and management strategies for protein C deficiency.
3. OMIM (Online Mendelian Inheritance in Man) is another valuable resource for finding information about the genetic aspects of protein C deficiency.

While protein C deficiency is a rare condition, scientific articles on PubMed provide valuable insights into the causes, clinical manifestations, and management of this condition. These articles can help healthcare professionals and researchers further understand protein C deficiency and develop improved diagnostic and treatment strategies.

References

• Testing for Protein C Deficiency:

  – Veeger NJ, et al. Protein C deficiency: a database of mutations, 1995.

  – Protein C: Related Gene Variant Descriptions on ClinVar. National Center for Biotechnology Information (NCBI)

• Causes and Inheritance:

  – Protein C deficiency. Online Mendelian Inheritance in Man (OMIM)

  – Lane DA, et al. Role of Anticoagulant Deficiencies and Factor V Leiden in the Development of Deep Vein Thrombosis. Haematologica. 1998;83(11 Suppl):57-63.

• Clinical Studies and Trials:

  – ClinicalTrials.gov. U.S. National Library of Medicine.

  – D’Uva M, et al. Protein S and Protein C Pathway in Acne Vulgaris Lesions and Dermal Fibroblasts. Int J Mol Sci. 2020;21(15):5242.

  – Dargaud Y, et al. Protein C Concentrates in Severe Congenital Protein C Deficiency: A Study of Three Different Concentrates in Routine Clinical Practice. Thromb Haemost. 2014;112(4):677-683.

• Clinical Manifestations:

  – Marlar RA, et al. Protein C Deficiency States. Semin Thromb Hemost. 1990;16(4):299-308.

  – Gandrille S, et al. Pregnancy-Related Venous Thromboembolism in Heterozygous Carriers of Hereditary Protein S Deficiency. Blood. 2002;99(7):2446-2448.

• Advocacy and Support:

  – Protein C Deficiency. American Thrombosis and Hemostasis Network.

  – National Blood Clot Alliance. Building Awareness and Reducing Risk of Blood Clots.

• Additional Resources:

  – Genetic Testing Registry (GTR). National Center for Biotechnology Information (NCBI).

  – Center for Disease Control and Prevention (CDC). Genetic Testing.