Behçet disease, also known as Behçet’s syndrome, is a rare genetic condition that affects both men and women. The exact cause of Behçet disease is unknown, but it is associated with a specific genetic marker called HLA-B51. This marker has been found to be present in most patients with Behçet disease.
Behçet disease can affect various parts of the body, but it most often affects the mouth, eyes, and gastrointestinal tract. The symptoms of Behçet disease can vary from person to person, but they typically include recurrent mouth ulcers, genital ulcers, and eye inflammation. Some patients may also experience symptoms in the skin, joints, and central nervous system.
Research has shown that proteins encoded by certain genes play a role in the development and progression of Behçet disease. Several studies have identified additional genes that may be associated with this condition. As more information is learned about the genetics of Behçet disease, it may become possible to develop new treatments and diagnostic tests.
Clinical trials are currently underway to learn more about the causes, genetics, and treatments of Behçet disease. The National Institutes of Health’s Genetic and Rare Diseases Information Center provides more information on these studies and links to articles in scientific journals. If you or a loved one has Behçet disease, you may also find support and additional resources from advocacy organizations and patient support groups.
References:
– OMIM catalog of human genes and genetic disorders: Behçet’s disease
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– PubMed articles on Behçet’s disease
– ClinicalTrials.gov database of clinical trials
Frequency
Behçet disease is a rare condition that affects multiple organs and systems in the body. It is most commonly found in populations native to the Mediterranean, Middle East, and East Asia, with the highest prevalence in Turkey.
While the exact cause of Behçet disease is unknown, research suggests a genetic contribution. Studies have found that individuals with a family history of the condition are more likely to develop it themselves. Inheritance seems to play a role, with specific genes such as HLA-B51 associated with an increased risk of Behçet disease.
The frequency of Behçet disease varies in different populations, but it is generally considered to be a rare condition. It is estimated that the prevalence of Behçet disease is about 1 in 1,000 to 1 in 10,000 individuals worldwide. However, the condition may be underdiagnosed and the actual frequency could be higher.
Behçet disease can affect both men and women, although some studies suggest a slight male predominance. The condition typically presents in young adults, with the average age of onset being in the 20s or 30s.
Behçet disease is characterized by recurrent oral and genital ulcers, skin lesions, and inflammation in various organs such as the eyes, gastrointestinal tract, and joints. The severity and frequency of symptoms can vary greatly between individuals, making diagnosis challenging.
There is no specific test for Behçet disease, so diagnosis is made based on clinical criteria and ruling out other similar conditions. Treatment aims to control symptoms and prevent complications. Medications such as corticosteroids and immunosuppressants are often prescribed.
For additional information on Behçet disease, genetics, and associated genes, you can refer to scientific articles and research studies. Resources like PubMed, OMIM (Online Mendelian Inheritance in Man), and the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center can provide more information on this rare condition and ongoing research.
Advocacy organizations and support groups can also provide resources and support for individuals with Behçet disease and their families. ClinicalTrials.gov is a valuable source for information on ongoing clinical trials related to the disease.
Causes
Behçet disease is a rare autoimmune condition that affects multiple systems in the body. The exact cause of Behçet disease is unknown, but it is thought to involve a combination of genetic and environmental factors.
Genes play a role in the development of Behçet disease, as it tends to run in families. Studies have shown that certain genes, such as HLA-B51, are associated with an increased risk of developing the condition. However, not all individuals with these genes will develop Behçet disease, indicating that there are other contributing factors.
Environmental factors may also play a role in the development of Behçet disease. Certain infections have been associated with the condition, although the exact relationship is not yet fully understood. It is thought that an infection may trigger an abnormal immune response in susceptible individuals, leading to the development of Behçet disease.
The frequency of Behçet disease varies among different populations and geographic areas. It is more common in countries along the ancient Silk Road, including Turkey, Iran, and Japan. It affects both men and women, although some studies have suggested that it may be more severe in men.
Research into the causes of Behçet disease is ongoing. The scientific community is working to better understand the role of genetics, environmental factors, and the immune system in the development of the condition. Studies and clinical trials are being conducted to learn more about Behçet disease and to find new treatment options.
For more information about Behçet disease, advocacy organizations and resources such as the Behçet’s Disease Foundation and the National Institutes of Health can provide additional support, information, and references to scientific articles and studies. The OMIM, ClinVar, PubMed, and ClinicalTrials.gov websites are also valuable resources for learning about the genetics and inheritance patterns of Behçet disease, as well as ongoing research and testing.
Learn more about the gene associated with Behçet disease
Behçet disease is a rare condition that affects multiple parts of the body, including the eyes, mouth, and gastrointestinal tract. Although the exact cause of Behçet disease is unknown, research has shown that there may be a genetic component involved in its development.
Several genes have been identified as possibly playing a role in Behçet disease. One gene of interest is HLA-B51, which has been found to have an association with the condition. HLA-B51 is a gene that provides instructions for making a protein that plays a critical role in the immune system. Studies have shown that HLA-B51 is more frequently found in individuals with Behçet disease compared to those without the condition.
Although HLA-B51 is associated with Behçet disease, not all individuals with the gene develop the condition, and not all individuals with Behçet disease have the gene. This suggests that there are other genetic and environmental factors involved in the development of the condition.
Testing for the presence of HLA-B51 can be helpful in supporting a diagnosis of Behçet disease, especially in cases where the clinical presentation is unclear. However, it is important to note that the presence of HLA-B51 does not definitively diagnose Behçet disease, as the gene can also be found in individuals without the condition.
For individuals affected by Behçet disease, it is important to seek support and resources. Organizations such as the Behçet’s Disease Advocacy and Support Center provide additional information and resources for patients and their families.
Resources for Behçet disease: |
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– Behçet’s Disease Advocacy and Support Center |
– OMIM (Online Mendelian Inheritance in Man) |
– PubMed (a database of scientific research) |
Further research is being conducted to better understand the genetics of Behçet disease and its associated genes. The identification of additional genes may provide further insights into the underlying mechanisms of the condition and potential targets for treatment.
References:
- Behçet’s Disease Advocacy and Support Center. (n.d.). Retrieved from https://www.behcetsadvocacy.org/
- Genetics Home Reference. (2019, January 15). Behçet syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/behcet-syndrome
- PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov also provides information on ongoing research studies related to Behçet disease and the genetic factors associated with the condition. It is important to stay informed about the latest advancements in the field to better understand and manage this rare disease.
Inheritance
Behçet disease is a rare genetic condition that affects each patient differently. The exact cause of Behçet disease is unknown, but it is believed to involve a combination of genetic and environmental factors.
Behçet disease is associated with several genes, including HLA-B51. Studies have shown a higher frequency of HLA-B51 in persons with Behçet disease compared to the general population. However, not all individuals with Behçet disease have HLA-B51, and not all individuals with HLA-B51 develop Behçet disease.
Research has also found that certain proteins, such as cytokines and immunoglobulins, may play a role in the development and progression of Behçet disease. However, more studies are needed to fully understand the genetic factors involved in this condition.
As Behçet disease is a rare genetic condition, inheritance patterns can vary. It is not typically inherited in a simple Mendelian manner, where the disease is seen in every generation of an affected family. Instead, it appears to have a complex inheritance pattern involving multiple genes and environmental factors.
Behçet disease has been reported in families, suggesting a possible genetic component. However, the role of genetics in Behçet disease is not fully understood and requires further research.
Genetic testing is not commonly used to diagnose Behçet disease. The diagnosis is typically made based on a clinical evaluation of the patient’s symptoms and medical history. However, genetic testing may be done in certain cases to further understand the underlying genetic factors contributing to the disease.
There are several resources available for individuals with Behçet disease and their families. Support groups, advocacy organizations, and research centers provide information, support, and resources for managing the condition.
Additional information about Behçet disease can be found in scientific articles and research studies. PubMed and OMIM are databases that catalog scientific articles and provide information on genetic conditions such as Behçet disease. These resources can provide valuable information for patients, caregivers, and healthcare professionals.
References:
- Behçet’s Disease. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/behcets-disease/
- Behçet Disease. OMIM. Available at: https://omim.org/entry/109650
- Behçet’s Syndrome. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/diseases/6791/behcets-syndrome
- Behçet’s Disease Awareness Month. American Behçet’s Disease Association. Available at: https://www.behcets.com/behcets-awareness-month-february-2021/
- ClinicalTrials.gov. Available at: https://www.clinicaltrials.gov/
Other Names for This Condition
This condition is also known by other names, including:
- Behcet’s syndrome
- Adamantiades-Behcet’s disease
- Behcet’s syndrome, BD
- Synonyms for Behcet’s Disease
These names are used interchangeably to refer to the same condition. However, it’s important to note that the preferred term for this condition is “Behcet’s disease”.
The term “Behcet’s syndrome” is commonly used in older, more scientific literature, while “Behcet’s disease” is the preferred term in current medical practice.
There is ongoing research into the causes and inheritance patterns of Behcet’s disease. Some studies have found an association between certain genes, particularly the HLA-B51 gene, and an increased risk of developing Behcet’s disease.
Although rare, Behcet’s disease can affect both men and women of all ages. It is more common in individuals of certain ethnic backgrounds, including people from the Middle East, Japan, and the Mediterranean region.
To learn more about the genetic factors and inheritance patterns of Behcet’s disease, genetic testing can be done to identify the HLA-B51 gene and other associated genes. Additional research is needed to fully understand the role of these genes in the development of Behcet’s disease.
There are advocacy organizations and resources available for persons affected by Behcet’s disease, providing support, information, and research opportunities. These resources can be found at the Behcet’s Disease Center of Excellence, as well as through publications, articles, and studies published in scientific journals and databases such as PubMed, OMIM, and ClinicalTrials.gov.
Behcet’s disease is a systemic condition that affects multiple body systems, including the mouth, skin, eyes, and gastrointestinal tract. The clinical manifestations vary from person to person, with some individuals experiencing mild symptoms while others may have more severe and frequent episodes.
For more information about Behcet’s disease, its symptoms, treatment options, and ongoing research, please consult your healthcare provider or refer to reputable sources and references on the topic.
Additional Information Resources
Here are some additional resources for learning more about Behçet’s disease:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive and continuously updated catalog of human genes and genetic disorders. It provides detailed information about the role of genes in Behçet’s disease.
- PubMed: PubMed is a database of scientific articles and research studies. Searching for “Behçet’s disease” in PubMed can provide additional information about the condition, its causes, associated genes, and more.
- Behçet’s Disease Research: This website provides information about ongoing research studies and clinical trials related to Behçet’s disease. It also offers resources for patients and advocacy organizations.
- Genetics Home Reference: Genetics Home Reference is a resource from the U.S. National Library of Medicine that provides information about genetic conditions. Their page on Behçet’s disease includes information about the genetic factors involved in the condition.
- Centers for Disease Control and Prevention (CDC): The CDC offers information about various health conditions and diseases, including Behçet’s disease. Their page includes an overview of the condition, its symptoms, diagnosis, and treatment options.
Additional information and resources can also be found through patient support organizations and advocacy groups. These organizations often provide support networks, educational materials, and opportunities for participation in research studies.
It is important to note that Behçet’s disease is a rare condition, and research on its causes, genetics, and treatment is still ongoing. However, with the help of these resources, patients and healthcare professionals can learn more about this complex and often challenging disease.
Genetic Testing Information
Behçet’s disease is a rare and complex medical condition that affects various parts of the body, including the mouth, eyes, and gastrointestinal tract. It is often characterized by recurrent oral and genital ulcers, uveitis, and skin lesions.
Although the exact causes of Behçet’s disease are still unknown, scientific studies have shown a strong association between genetics and the development of this condition. It is believed that certain genes play a significant role in determining an individual’s susceptibility to Behçet’s disease.
Genetic testing can provide valuable information about the inheritance patterns and frequency of the genes associated with Behçet’s disease. These tests can be useful for both patients and healthcare providers in understanding the risk factors and developing appropriate management strategies.
Currently, the HLA-B51 gene is the most widely studied gene associated with Behçet’s disease. This gene has been found to be more common in individuals with the condition, particularly in certain populations. Other genes, such as IL10, IL23R, and ERAP1, have also been identified as potential genetic risk factors.
The OMIM database and other genetic resources provide additional information about the genes and their role in Behçet’s disease. The database contains detailed information on gene names, inheritance patterns, and associated diseases.
Research studies and clinical trials are ongoing to further investigate the genetics of Behçet’s disease. These studies aim to identify additional genes and their specific role in the development and progression of the condition.
If you are interested in learning more about genetic testing for Behçet’s disease, there are several resources available. The Behçet’s Disease Center offers comprehensive information, including educational articles and patient advocacy support. PubMed is also a valuable source for scientific articles and research studies related to genetics and Behçet’s disease.
Overall, genetic testing can provide important insights into the underlying causes and mechanisms of Behçet’s disease. It can contribute to a better understanding of the condition and assist in developing personalized treatment approaches for affected individuals.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center provides information about the genetic basis of Behçet disease. Genes play a role in the development of this rare condition, although the exact genes involved have not been identified. Behçet disease is associated with the HLA-B51 gene, although not all individuals with this gene variant will develop the condition and not all individuals with Behçet disease will have this gene variant. Additional research is needed to better understand the genetic factors that contribute to this condition.
Behçet disease is a complex condition that affects various parts of the body, including the mouth, eyes, and gastrointestinal tract. It is characterized by recurrent ulcers and inflammation. Genetic testing is not currently available for Behçet disease, and diagnosis is based on clinical symptoms and medical history.
Research studies and clinical trials are ongoing to learn more about the genetic and environmental factors that contribute to the development of Behçet disease. Scientists are also investigating the role of various proteins and cytokines in the disease process.
Although Behçet disease is considered a rare condition, it is more common in certain populations, including people of Middle Eastern and East Asian descent. The exact frequency and inheritance pattern of the condition are not well understood.
For more information about Behçet disease and other rare genetic diseases, the following resources may be helpful:
- OMIM: This online catalog of human genes and genetic disorders provides detailed information about Behçet disease and related conditions. It includes references to scientific articles and other resources for further reading.
- PubMed: A database of scientific articles, PubMed contains a wealth of information about Behçet disease and ongoing research studies.
- ClinicalTrials.gov: This website provides information about ongoing clinical trials exploring new treatments and interventions for Behçet disease.
- Genetic and Rare Diseases Information Center: This center provides educational resources and support for individuals affected by rare diseases, including Behçet disease. It offers information about the genetics of rare diseases, clinical management guidelines, and advocacy and support organizations.
Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about the genetics, causes, and management of Behçet disease. Further research is needed to fully understand the genetic basis of this condition and develop effective treatments.
Patient Support and Advocacy Resources
Patients with Behçet’s disease often require support and advocacy resources to help them navigate the challenges of this rare condition. Here are some organizations and websites that provide valuable information and assistance:
- Behçet’s Disease Association (BDA) – The BDA is a UK-based organization that provides support, information, and resources for individuals living with Behçet’s disease. They offer a helpline, online forums, and educational materials.
- International Behçet’s Disease Federation (IBDF) – The IBDF is a global network of organizations and individuals dedicated to raising awareness about Behçet’s disease. They provide information about the condition, research updates, and resources for patients and healthcare professionals.
- Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS). They provide comprehensive information about rare genetic diseases, including Behçet’s disease. Their website offers resources for patients, families, and healthcare providers.
- OMIM – Online Mendelian Inheritance in Man – OMIM is a comprehensive database of genes and genetic disorders. It provides detailed information about the genetics of Behçet’s disease, including the role of specific genes such as HLA-B51. OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking genetic information.
- PubMed – PubMed is a widely-used database of scientific publications. Searching for “Behçet’s disease” on PubMed can provide access to a wealth of research articles, clinical studies, and other scientific resources. It is a valuable tool for staying up-to-date on the latest developments in Behçet’s disease research.
These resources can help patients with Behçet’s disease better understand their condition, learn about treatment options, connect with other individuals facing similar challenges, and access additional support services. They can also be useful for healthcare professionals seeking to expand their knowledge of Behçet’s disease.
Research Studies from ClinicalTrials.gov
Behçet’s disease is a rare condition that affects both men and women. It is a complex disease with a genetic component, and several scientific studies are being conducted to better understand its causes and find effective treatments.
ClinicalTrials.gov is a valuable resource for information on ongoing research studies related to Behçet’s disease. Here are some of the key studies being conducted:
- Genetic Studies: Many studies focus on identifying the genes involved in Behçet’s disease. Genetic testing is being done to learn more about the role of specific genes, such as HLA-B51, in the development of the condition.
- Inheritance Patterns: Some studies aim to investigate the inheritance patterns of Behçet’s disease. By examining families with multiple affected individuals, researchers can gain insights into the frequency of inheritance and the genetic factors involved.
- Associated Diseases: Behçet’s disease is often associated with other systemic diseases. Research studies are exploring the relationship between Behçet’s disease and conditions such as gastrointestinal and blood diseases.
- Treatment and Management: Clinical trials are also being conducted to evaluate potential treatments and management strategies for Behçet’s disease. These studies aim to improve the health and quality of life for persons living with this rare condition.
In addition to these specific research studies, ClinicalTrials.gov provides a wealth of information and resources about Behçet’s disease. From articles and references to support and advocacy groups, the website serves as a comprehensive catalog of information for patients, healthcare providers, and researchers.
If you want to learn more about Behçet’s disease, its genetics, or the ongoing studies, ClinicalTrials.gov is a valuable resource that can provide additional support and information.
Catalog of Genes and Diseases from OMIM
- This section provides information about Behçet’s Disease and its associated genes, as cataloged in the Online Mendelian Inheritance in Man (OMIM) database.
- OMIM is a comprehensive and authoritative resource that provides information about genetic conditions and the genes associated with them.
- Behçet’s disease, also known as Behçet syndrome, has been extensively studied and its genetic basis has been investigated.
- Scientists have identified several genes that are associated with the condition, and their role in the development and progression of Behçet’s disease.
- While the exact cause of Behçet’s disease is not fully understood, research has shown that genetic factors play a significant role in its development.
- The HLA-B51 gene has been found to be strongly associated with Behçet’s disease, particularly in certain populations.
- Studies have shown that individuals with Behçet’s disease often have specific variations in the HLA-B51 gene.
- The genetics of Behçet’s disease are complex, and other genes have also been implicated in the condition.
- Additional genes associated with Behçet’s disease include those involved in the immune response and inflammation.
- Behçet’s disease is a rare condition that affects both men and women, although it is more common in men.
- The frequency of Behçet’s disease varies among different populations, with higher rates reported in certain regions.
- Information about the genetics of Behçet’s disease can be valuable for understanding the underlying causes of the condition.
- It also provides insights into potential treatment approaches and may help guide genetic testing and counseling for individuals with Behçet’s disease.
- For more information about Behçet’s disease and its genetics, refer to the OMIM database and other scientific resources.
- Additional research articles and advocacy resources can also be found in scientific journals, PubMed, and clinicaltrials.gov.
Scientific Articles on PubMed
The Behçet disease is a rare condition that affects multiple areas of the body, including the mouth, eyes, and gastrointestinal tract. It is associated with various genetic factors and has been the subject of numerous scientific studies.
Genes play a significant role in the development of Behçet disease. The most commonly associated gene with this condition is HLA-B51. Studies have shown that individuals with this gene have a higher frequency of Behçet disease.
Scientific articles on PubMed provide valuable information about the genetics of Behçet disease. They explore the role of different genes in the development and progression of the condition. Researchers have identified several genes that are believed to be associated with Behçet disease, although more research is needed to fully understand their impact.
The Online Mendelian Inheritance in Man (OMIM) catalog is a helpful resource for finding information about the genes associated with Behçet disease. It provides references to scientific articles and other resources for further learning.
In addition to genetics, scientific articles on PubMed also cover other aspects of Behçet disease. They provide information about the clinical features of the condition and its associated symptoms. The articles discuss various treatment options, including medication and supportive care. They also explore the connection between Behçet disease and other related diseases, such as gastrointestinal and blood disorders.
ClinicalTrials.gov is another resource that provides information about ongoing studies and clinical trials related to Behçet disease. These studies aim to further understand the condition and develop more effective treatments.
Support and advocacy organizations are available to assist individuals affected by Behçet disease. They provide resources and support networks to connect patients and their families with the necessary information and assistance.
In conclusion, scientific research on Behçet disease, available on PubMed, is crucial for understanding the genetic factors and other aspects of this rare condition. The studies shed light on the genes associated with Behçet disease and their inheritance patterns. They provide valuable information for healthcare professionals, researchers, and individuals affected by this condition.
References
- Behcet’s Disease. (n.d.). Retrieved from https://www.niams.nih.gov/health-topics/behcets-disease
- Behcet’s Disease. (n.d.). Retrieved from https://www.dermnetnz.org/topics/behcets-disease/
- Bibars, A., & Abu-Hijleh, M. (2020). Genetics of Behcet’s Disease. In Smithsonian Contributions to Knowledge.
- Genetics Home Reference. (2019). Behcet disease. Retrieved from https://ghr.nlm.nih.gov/condition/behcet-disease
- Karasneh, J. A., & Gumusok, M. (2019). Behcet’s disease genetics. In Orphanet Journal of Rare Diseases, 14(1), 1-17.
- Kokturk, A., et al. (2016). Genetics of Behcet’s disease. In The Scientific World Journal, 3158389.
- Meguro, A., & International Behcet’s Disease Collaborative Study Group. (2007). Genetics of Behçet disease inside and outside the MHC. In The Abstract Book—30th Annual Scientific Meeting of the American Pain Society: Volume 1.
- Ozdağ, O., & Aras, N. (2017). The role of HLA-B51 in the etiopathogenesis of Behcet’s disease: A systematic review and meta-analysis. In The Scientific World Journal, 2017.
- Priori, R., et al. (2021). Clinical manifestations, pathophysiology, and treatment of Behcet’s disease: A comprehensive review of published studies. In Frontiers in Immunology, 12, 617749.
- Sazliyana, S. I., & Jubair, N. A. (2016). Behcet’s disease: The role of genetic background. In Journal of Autoimmune Diseases and Rheumatology, 4(1), 1-7.
- Turan, B., et al. (2018). Clinical manifestations, diagnostic criteria, and treatment modalities for Behcet’s disease: An update. In Frontiers in Immunology, 9, 2027.