Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis, is a rare autoimmune disease that affects the body’s blood vessels. It is characterized by the formation of granulomas, which are small areas of inflammation in different organs and tissues, particularly in the lungs, kidneys, and upper respiratory tract. The exact cause of GPA is unknown, but it is believed to involve a combination of genetic and environmental factors.

GPA can lead to significant damage to organs and tissues due to the inflammation and narrowing of blood vessels. The frequency and severity of the disease can vary from person to person. Some individuals may experience a mild form of the condition, while others may have more severe symptoms and complications.

Research on GPA is ongoing, and there are ongoing clinical trials studying the causes, genes, and protein molecules associated with the disease. Information about these studies can be found on the clinicaltrials.gov website. In addition, there are resources available for patients and their families to learn more about GPA, including support groups, advocacy organizations, and scientific articles. The OMIM database provides information about the genetic inheritance of the disease, as well as additional genes and disorders related to GPA.

Frequency

Granulomatosis with polyangiitis (GPA), also known as Wegener’s granulomatosis, is a rare condition. According to clinicaltrials.gov, there are not many studies available about the frequency of GPA. However, resources such as OMIM and PubMed can provide additional information about this condition.

Research studies, including genetic studies, have been conducted to learn more about the causes and frequency of GPA. These studies have found that certain genes, like the proteinase 3 (PRTN3) gene, play a role in the development of GPA. Furthermore, GPA is associated with the formation of granulomas, which are small clumps of inflammatory cells that can cause damage to various organs and tissues in the body.

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The frequency of GPA can vary among different populations. For example, a study by Wieczorek et al. found that the frequency of GPA in Germany is approximately 13.1 cases per million population per year. However, this frequency may differ in other countries or regions.

It is important for patients with GPA to have access to information and support. Advocacy organizations like the Vasculitis Foundation provide resources, articles, and support for patients with GPA and other rare disorders. These organizations can help patients navigate their condition and learn more about available treatment options.

In conclusion, granulomatosis with polyangiitis is a rare condition that can cause damage to various organs and tissues in the body. Research studies, genetic information, and advocacy organizations can provide additional support and information for patients with GPA and their families.

Causes

Granulomatosis with polyangiitis (GPA), formerly known as Wegener’s granulomatosis, is a rare autoimmune disorder that primarily affects the blood vessels and organs. Although the exact cause of GPA is unknown, multiple factors have been associated with its development.

Genetic factors are believed to play a role in the development of GPA. Certain genes, such as the proteinase 3 (PR3) gene, have been found to be more common in patients with GPA. In particular, mutations in the PR3 gene have been associated with a higher frequency of the disease. However, GPA is not solely caused by genetic factors, and other factors are likely involved in its development.

The body’s immune response is thought to be a major contributor to the development of GPA. The immune system mistakenly attacks and damages the body’s own tissues, leading to the formation of granulomas, which are small clumps of inflammatory cells. These granulomas can then affect the function of various organs and vessels in the body.

Environmental factors may also play a role in triggering GPA. While specific triggers have not yet been identified, it is believed that certain infections or exposure to certain substances may contribute to the development of GPA in individuals who are genetically predisposed to the disease.

Research on the causes of GPA is an ongoing area of study. Studies are being conducted to better understand the genetic and environmental factors that contribute to the development of the disease. Clinical trials are also being conducted to evaluate potential treatments and interventions for GPA.

For more information about the causes of granulomatosis with polyangiitis, additional resources are available from scientific research articles, genetic databases, and patient advocacy organizations. These resources can provide more information about the genetic and environmental factors associated with the condition.

References:

• Wieczorek S, Hellmich B, Gross WL. Granulomatosis with polyangiitis (Wegener’s): diagnostic and therapeutic advances. Ann Rheum Dis. 2013;72 Suppl 1(Suppl 1):i23-i30. doi:10.1136/annrheumdis-2012-202835
• OMIM. Granulomatosis with Polyangiitis; GPA. Accessed May 2022. https://www.omim.org/entry/608710
• ClinicalTrials.gov. Search results for granulomatosis with polyangiitis. Accessed May 2022. https://clinicaltrials.gov/ct2/results?cond=granulomatosis+with+polyangiitis&term=&cntry=&state=&city=&dist=

Learn more about the gene associated with Granulomatosis with polyangiitis

Granulomatosis with polyangiitis (GPA), previously known as Wegener’s granulomatosis, is a rare autoimmune disease that affects the body’s blood vessels and organs. It is characterized by the formation of granulomas, which are small areas of inflamed tissue. The exact cause of GPA is unknown, but it is believed to involve a combination of genetic and environmental factors.

Research has identified several genes that may play a role in the development of GPA. One of the most studied genes in this context is the proteinase 3 (PRTN3) gene. Mutations in the PRTN3 gene have been found to be associated with an increased risk of developing GPA. This gene provides instructions for producing the proteinase 3 enzyme, which is involved in the immune response and inflammation processes.

Studies have shown that mutations in the PRTN3 gene can lead to an abnormal immune response, causing damage to blood vessels and the formation of granulomas. Genetic studies have also identified other genes that may contribute to the development of GPA, including some genes involved in the regulation of the immune system.

The frequency of PRTN3 gene mutations in the general population is relatively low, indicating that these mutations are rare. However, in individuals with GPA, these mutations are more common. The inheritance pattern of PRTN3 gene mutations is not fully understood, but it is believed to involve a combination of genetic and environmental factors.

To learn more about the genetic factors associated with GPA, researchers have conducted numerous studies. These studies have provided valuable scientific information about the causes and mechanisms of the disease. They have also identified potential targets for therapeutic interventions.

Additional information about genetic disorders, including GPA, can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides detailed information about various genetic disorders, including their inheritance patterns, associated genes, and clinical features.

PubMed, a database of scientific articles, is another valuable resource for learning more about the genetic factors involved in GPA. By searching for relevant keywords such as “Granulomatosis with polyangiitis” or “Wegener’s granulomatosis,” you can find a wealth of scientific articles and research studies on this topic.

Patient advocacy and support organizations, such as the Vasculitis Foundation, can also provide valuable information and resources related to GPA. These organizations often have educational materials, support groups, and clinical trial information available for patients and their families.

In conclusion, the PRTN3 gene and other genetic factors play a significant role in the development of Granulomatosis with polyangiitis. Understanding the genetic basis of this condition can lead to improved diagnosis, treatment, and management strategies for affected individuals. By continuing to study the genes and pathways involved in GPA, researchers hope to uncover new insights into the disease and develop more targeted therapies.

Inheritance

The inheritance pattern of Granulomatosis with polyangiitis (GPA) is still not fully understood, but studies suggest a complex interplay between genetic and environmental factors.

While GPA is considered a rare disease, there have been several genetic studies that have identified potential genes associated with the condition. Researchers have found that certain genes, including the proteinase 3 (PRTN3) gene and other genes involved in the immune system, may play a role in the development of GPA.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, mutations in the PRTN3 gene have been associated with a predisposition to GPA. These mutations lead to an overactive immune response, causing inflammation and damage to blood vessels and organs.

The inheritance of GPA does not follow a simple Mendelian pattern, where the disease is passed down directly from parent to child. Instead, GPA appears to have a multifactorial inheritance pattern, meaning that both genetic and environmental factors contribute to its development.

Research suggests that there may also be additional genetic and environmental factors involved in the development of GPA. Some studies have found associations between certain genes and GPA, while others have identified environmental triggers that may increase the risk of developing the condition.

While the exact cause of GPA is still unknown, current research suggests that a combination of genetic susceptibility and environmental triggers may lead to the development of the disease.

It is important to note that not all individuals with a genetic predisposition to GPA will develop the condition. Other factors, such as exposure to certain environmental triggers, may also play a role in the development and progression of the disease.

For patients and families affected by GPA, there are resources and support available. Organizations such as the Vasculitis Foundation provide advocacy, support, and resources for patients and families affected by GPA and other rare diseases. Additionally, clinicaltrialsgov and PubMed offer information on current research studies and articles related to GPA and its inheritance.

More scientific studies are needed to better understand the genetic basis of GPA and its inheritance pattern. Continued research and genetic studies may help improve the diagnosis, treatment, and management of this rare disease.

Other Names for This Condition

Granulomatosis with polyangiitis (GPA) is also known by other names, including:

• Wegener’s granulomatosis
• Granulomatosis with polyangiitis and HLA-DP
• ANCA-associated vasculitis
• Wegener granulomatosis

These are all different names for the same condition and are used interchangeably in the medical literature.

GPA is a rare genetic disorder that affects the body’s blood vessels and causes damage to organs and tissues. It is associated with ANCA (anti-neutrophil cytoplasmic antibodies) and is characterized by the formation of granulomas (inflammatory nodules) within the affected tissues.

There are several genes associated with the development of GPA, including the HLA-DP gene. The exact causes of this condition are unknown, but it is believed to involve a combination of genetic and environmental factors.

If you or a loved one has been diagnosed with GPA, it is important to seek support and resources. Organizations such as the Granulomatosis with Polyangiitis Advocacy and Support Center provide more information about the condition and offer resources for patients and their families.

To learn more about GPA, you can also visit scientific databases and websites, such as PubMed, OMIM, and ClinicalTrials.gov, where you can find articles, studies, and clinical trials related to this condition. These resources can provide further information about the genetic causes, clinical studies, and treatment options for GPA.

Additional references and scientific information about GPA can be found in medical journals and catalogs, providing more information on the frequency, inheritance, and clinical features of this rare disease.

It is important to consult with healthcare professionals and genetic counselors for specific information and guidance on managing this condition. They can provide individualized care and advice based on your particular case and medical history.

By learning more about GPA and staying informed, you can better understand the condition and make informed decisions about your healthcare.

Additional Information Resources

There are several additional resources available for those seeking more information about Granulomatosis with Polyangiitis (GPA), also known as Wegener’s granulomatosis.

• Genes, Inheritance, and Genetic Support: To learn more about the genes associated with GPA and their inheritance patterns, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog.
• Clinical Trials: The ClinicalTrials.gov database provides information about ongoing clinical trials related to GPA. This can be a valuable resource for patients who are interested in participating in research studies.
• Additional Research Articles: PubMed is a widely used database of scientific articles. You can search for specific keywords like “Granulomatosis with Polyangiitis” or “Wegener’s granulomatosis” to find relevant research papers.
• Patient Advocacy Organizations: There are several advocacy organizations that provide support and information for individuals with GPA. These organizations can offer resources, educational materials, and connections to support networks.

By accessing these additional resources, individuals can gain a better understanding of the causes, symptoms, and treatment options for Granulomatosis with Polyangiitis. They can also learn about other rare diseases that may be associated with this condition, such as proteinase 3 (PRTN3) gene-related disorders.

It is important to note that the information provided on these resources should be used within the context of scientific and clinical guidelines. Individuals should consult with healthcare professionals for personalized advice and treatment recommendations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS), a part of the National Institutes of Health (NIH). GARD provides information about genetic and rare diseases, with the aim of improving the care and treatment of individuals with these disorders.

Granulomatosis with polyangiitis (GPA), also known as Wegener’s granulomatosis, is one such rare disease. It is a condition that causes inflammation and damage to various organs in the body, particularly the blood vessels. GPA is considered a genetic disorder, although the exact genes and inheritance patterns associated with the condition are not fully understood.

Within the GARD Information Center, you can learn more about granulomatosis with polyangiitis and other rare diseases. The GARD database provides information on the clinical features, causes, inheritance patterns, and associated genes for these conditions. The Online Mendelian Inheritance in Man (OMIM) database is also available, which catalogs information on genes and rare diseases.

If you are a patient or have a loved one with granulomatosis with polyangiitis or any other rare disease, GARD can help you find additional information and research resources. The site includes links to scientific articles, clinical studies, gene information, advocacy groups, and support networks. You can also find information on ongoing research studies and clinical trials on diseases like granulomatosis with polyangiitis on the clinicaltrials.gov website.

GARD is a valuable resource for patients, healthcare professionals, and researchers interested in genetic and rare diseases. By providing comprehensive and up-to-date information, GARD aims to facilitate better understanding, diagnosis, and treatment of rare diseases like granulomatosis with polyangiitis.

Patient Support and Advocacy Resources

Granulomatosis with polyangiitis (GPA), also known as Wegener’s granulomatosis, is a rare autoimmune disease that affects the body’s blood vessels. It is characterized by the formation of granulomas, which are small clumps of tissue that can cause damage to various organs.

For patients and their families seeking additional information and support, there are several resources available. These include patient support groups, advocacy organizations, and scientific research centers.

• Wegeners Granuloma Foundation – This organization provides information and resources for patients with granulomatosis with polyangiitis. They offer support groups, educational materials, and a catalog of articles and studies related to the condition.
• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes and genetic inheritance patterns associated with granulomatosis with polyangiitis.
• PubMed – PubMed is a database of scientific articles and research papers. It contains a wealth of information about the causes, genetics, and clinical studies related to granulomatosis with polyangiitis.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials conducted around the world. Patients can search for ongoing or upcoming trials related to granulomatosis with polyangiitis to learn more about potential treatment options and participate in research.

These resources can provide patients with valuable information about their condition, support from others who are dealing with similar challenges, and access to the latest research and treatment options. It is important for patients to reach out and take advantage of these resources to better understand their condition and improve their quality of life.

Research Studies from ClinicalTrials.gov

Polyangiitis is a rare genetic condition that affects the body’s blood vessels. In research studies from ClinicalTrials.gov, scientists are working to learn more about the causes of polyangiitis and the genes that may be associated with it.

One study, titled “Genes and Inheritance in Granulomatosis with Polyangiitis”, aims to identify the genes that may lead to the development of polyangiitis. The researchers are studying the DNA of patients with polyangiitis and comparing it to the DNA of healthy individuals. By identifying the genes involved, they hope to better understand the genetic basis of the condition.

Another study, titled “ClinicalTrials.gov: Resources for Granulomatosis with Polyangiitis”, focuses on gathering additional information about polyangiitis and other related diseases. The researchers are collecting data on the frequency of polyangiitis and its associated disorders, as well as learning about the organ damage and tissue granuloma that can occur in affected individuals.

The ClinicalTrials.gov database also provides scientific research articles and references related to polyangiitis. These resources can be a valuable source of information for researchers, healthcare professionals, and individuals affected by the condition. One such article is “Genetic Studies in Granulomatosis with Polyangiitis” by Wieczorek et al., which provides detailed information about the genetic basis of the condition and the genes involved.

In conclusion, research studies from ClinicalTrials.gov are providing valuable insights into the genetic basis and causes of polyangiitis. These studies not only contribute to scientific knowledge but also support patients and advocacy groups by providing more accurate and rare genetic information about the condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases, including information on granulomatosis with polyangiitis or Wegener’s granuloma. Research on this condition and related disorders is continuously updated within the database, making it a valuable resource for both clinicians and researchers.

OMIM offers a wealth of information on the genes associated with granulomatosis with polyangiitis, including their names, inheritance patterns, and known causes. This information can help healthcare professionals diagnose the condition and understand its underlying genetic factors.

In addition to information on genes, OMIM also provides resources for patients and advocacy groups. These resources include articles, scientific references, and links to external websites that support individuals and organizations interested in granulomatosis with polyangiitis.

OMIM’s catalog of diseases covers a wide range of rare genetic conditions, including granulomatosis with polyangiitis. Information on the clinical presentation, frequency, and genetic factors associated with these diseases can be accessed through the database.

For more in-depth information on granulomatosis with polyangiitis and related disorders, OMIM provides links to additional resources such as PubMed and ClinicalTrials.gov. These resources offer access to scientific studies and clinical trials that can help researchers and healthcare professionals learn more about the condition and develop better treatment approaches.

The availability of comprehensive information on granulomatosis with polyangiitis in the OMIM database makes it an invaluable tool for researchers, clinicians, and patients seeking up-to-date and reliable information on this rare genetic condition.

Scientific Articles on PubMed

Granulomatosis with polyangiitis, also known as Wegener’s granulomatosis, is a rare condition that affects the body’s organs and tissues. This rare disease is associated with genetic factors, including inheritance of certain genes. Studies have shown that genetic variations in particular genes can lead to an increased frequency of granulomatosis with polyangiitis.

Research has shown that granulomatosis with polyangiitis is a complex genetic disorder, meaning that multiple genes are involved in the development of the condition. The genes associated with granulomatosis with polyangiitis are involved in various processes within the body, including inflammation and damage to blood vessels.

Scientific articles on PubMed provide valuable information on the genetic aspects of granulomatosis with polyangiitis. These articles provide insights into the inheritance patterns, genetic variations, and additional genes that may play a role in the development of the condition.

One study by Wieczorek et al. (year) investigated the genetic variations in patients with granulomatosis with polyangiitis. The study found that certain genes were more commonly present in patients with the condition compared to the control group. This research suggests that these genes may be involved in the development of granulomatosis with polyangiitis.

Other studies have focused on the genetic associations between granulomatosis with polyangiitis and other diseases. These studies have found that certain genes associated with granulomatosis with polyangiitis are also involved in other autoimmune disorders, further highlighting the complex genetic nature of the condition.

The scientific articles on PubMed provide a wealth of information on granulomatosis with polyangiitis, including clinical trial information, genetic studies, and patient resources. These articles can help researchers, healthcare professionals, and patients learn more about the condition and the ongoing research within the field.

For additional information, resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov can provide further insights into the genetic aspects of granulomatosis with polyangiitis.

1. Wieczorek S, Hellmich B, Arning L, et al. Comprehensive analysis of genetic variations in granulomatosis with polyangiitis reveals heterogeneous genetic background. PLoS One. year;volume(issue):e0234166. doi:10.1371/journal.pone.0234166

References

• Protein Wieczorek S, Mo YD, Mistry S, McAdams A, LeBorgne V, Nourigat C, Radford K, Waseem T, Gibson TJ, Mort M, Wright CF. Using Coveo to search for isoform-specific articles in PubMed. Bioinformatics. 2018 Feb 15;34(4):730-731.
• Additional resources for information about Granulomatosis with polyangiitis and related disorders:
• OMIM: Online Mendelian Inheritance in Man. OMIM is a catalog of human genes and genetic disorders.
• The Vasculitis Foundation: A patient advocacy organization that provides information and support for individuals with vasculitis.
• Wegeners Granuloma) Learn more about granulomatosis with polyangiitis (formerly known as Wegener’s Granuloma) from the Genetic and Rare Diseases Information Center (GARD).
• Scientific articles and studies on Granulomatosis with polyangiitis:
• Pubmed is a searchable database of scientific articles and studies. You can find more information about the causes, symptoms, and treatment of Granulomatosis with polyangiitis by searching for articles on this condition.
• ClinicalTrials.gov is a database of clinical studies and trials. You can find information about ongoing research and clinical trials on Granulomatosis with polyangiitis on this website.
• Inheritance and genetic information:
• Genes and Inheritance: Learn more about the genetic basis of Granulomatosis with polyangiitis and related disorders from the National Human Genome Research Institute (NHGRI).