Bernard-Soulier Syndrome (BSS), also known as Bernard-Soulier disease, is a rare genetic disorder that affects the formation and function of platelets, the blood cells responsible for blood clotting. BSS is caused by mutations in one of three genes: GP1BA, GP1BB, and GP9.

Patients with BSS have a decreased number of platelets in their blood, which can lead to prolonged bleeding and bruising. Additional symptoms of BSS may include nosebleeds, gum bleeding, and heavy or prolonged menstrual periods. The frequency of BSS in the general population is estimated to be 1 in 1,000,000.

BSS is inherited in an autosomal recessive manner, meaning that both copies of the gene must have mutations for the condition to be present. Genetic testing can be used to confirm a diagnosis of BSS and to identify the specific gene mutations.

There is currently no cure for BSS, but treatment and support can help manage its symptoms. Platelet transfusions may be necessary to control bleeding episodes, and medications may be prescribed to increase platelet production. Patients with BSS may also benefit from additional resources such as counseling, advocacy groups, and educational materials.

For more information about Bernard-Soulier Syndrome, you can visit reliable sources and scientific databases such as Online Mendelian Inheritance in Man (OMIM), PubMed, and the National Organization for Rare Disorders (NORD). These resources provide comprehensive information on the syndrome, its causes, clinical features, and genetic testing.

References:

Administrative costs currently make up a major chunk of healthcare spending, especially in America. In fact, healthcare administrative spending accounts for 8% of the GDP in the U.S., or more than $1.485 trillion if looking at 2016 data. The cost of healthcare administration in other nations is just 3% of the GPD, on average, according to healthcare revenue news source RevCycleIntelligence.

– Noris P, Pecci A. Hereditary thrombocytopenias. In: Hoffman R, et al., eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2013:2049-2063.

– Bernard-Soulier Syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/bernard-soulier-syndrome. Accessed October 25, 2021.

Frequency

Bernard-Soulier syndrome is a rare inherited blood disorder that affects platelet formation. It is estimated to occur in about 1 in every 1 million individuals worldwide.

Testing for Bernard-Soulier syndrome can be done through genetic testing or by analyzing the patient’s platelets. Mutations in the GP1BA, GP1BB, or GP9 genes are associated with this condition. Additional scientific and clinical studies support the association of these genes with the syndrome.

The frequency of Bernard-Soulier syndrome may vary depending on the specific gene involved. The GP1BA gene mutation is reported in approximately 15-20% of cases, GP1BB gene mutation in about 70-75% of cases, and GP9 gene mutation in about 5-10% of cases.

Catalogs such as Online Mendelian Inheritance in Man (OMIM) and PubMed may provide more information on the frequency and other genetic diseases associated with Bernard-Soulier syndrome.

Patients with Bernard-Soulier syndrome often experience prolonged bleeding due to the deficient binding of platelets to the blood vessel wall. This can cause severe bleeding tendencies and potentially life-threatening complications.

For more information on Bernard-Soulier syndrome, you can find articles, advocacy groups, and additional resources through organizations dedicated to genetic diseases and platelet disorders.

Causes

Bernard-Soulier syndrome is a rare genetic disorder that is caused by mutations in the GP1BA, GP1BB, or GP9 genes. These genes play a crucial role in the formation and function of platelets, which are important for blood clotting.

The inheritance pattern of Bernard-Soulier syndrome is autosomal recessive, meaning that an affected individual must inherit a copy of the mutated gene from both parents. If only one parent carries the mutated gene, the child will be a carrier but may not have the condition.

There are additional genes that have been associated with this condition, such as GP6 and MPL. Testing for mutations in these genes can help confirm a diagnosis of Bernard-Soulier syndrome.

The OMIM database, which collects information about genetic disorders, provides further details on the genes associated with Bernard-Soulier syndrome. The catalog of human genes and genetic disorders can be accessed on their website for more information.

Although rare, Bernard-Soulier syndrome has been reported in various populations worldwide. The clinical frequency of the syndrome is estimated to be around 1 case per million individuals.

Scientific research and advocacy organizations provide support and resources for patients and families affected by Bernard-Soulier syndrome. These organizations can offer information on genetic testing, clinical trials, and treatment options.

Further research on the genetic basis of Bernard-Soulier syndrome and its binding with other diseases is ongoing. More articles and scientific studies can be found on PubMed, a database of biomedical literature.

Learn more about the genes associated with Bernard-Soulier syndrome

Bernard-Soulier syndrome is a rare genetic condition that affects the formation and function of platelets, which are essential for blood clotting. This condition is caused by mutations in several genes, including GP1BA, GP1BB, and GP9.

GP1BA, GP1BB, and GP9 are genes that provide instructions for making proteins called glycoprotein Ib alpha, glycoprotein Ib beta, and glycoprotein IX, respectively. These proteins form a complex on the surface of platelets and are involved in the binding of platelets to the walls of blood vessels.

Mutations in these genes can disrupt the normal binding of platelets and lead to the characteristic features of Bernard-Soulier syndrome, such as prolonged bleeding and bruising. The inheritance pattern of this condition can vary, depending on which gene is affected.

To learn more about the specific genes associated with Bernard-Soulier syndrome, you can refer to the following resources:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Bernard-Soulier syndrome, including their names, clinical features, inheritance patterns, and references to scientific articles.
• Genetic testing: Genetic testing can be used to identify mutations in the genes associated with Bernard-Soulier syndrome. This testing can help confirm a diagnosis and provide information about the specific gene mutation present in a patient.
• Scientific articles: There are many scientific articles available that provide further information about the genetics of Bernard-Soulier syndrome. These articles can be found in medical journals and online databases.
• Additional resources: There are several advocacy and support organizations for rare diseases, including Bernard-Soulier syndrome. These organizations can provide additional information and resources for patients and their families.

Learning more about the genes associated with Bernard-Soulier syndrome can help improve understanding of this condition and may lead to new advances in diagnosis and treatment.

Inheritance

Bernard-Soulier syndrome is a rare genetic condition that affects the blood’s ability to clot properly. It is inherited in an autosomal recessive manner. This means that both copies of the affected gene, one from each parent, must be present for the condition to occur.

The condition is caused by mutations in the genes GP1BA, GP1BB, or GP9, which provide instructions for making proteins involved in platelet formation and function. These proteins are responsible for binding the platelets to damaged blood vessels to initiate clotting.

Patients with Bernard-Soulier syndrome have a decreased number of functional platelets, which can lead to prolonged bleeding episodes and difficulty with clot formation. The severity of the condition can vary, with some individuals experiencing milder symptoms while others may have more severe symptoms.

Testing for Bernard-Soulier syndrome involves genetic testing to identify mutations in the GP1BA, GP1BB, or GP9 genes. This can be done through specialized laboratories or genetic testing services. It is important to note that genetic testing is not always necessary to diagnose the condition, as clinical symptoms and blood tests can also be used to make a diagnosis.

For more information on genetic testing and support, additional resources can be found through advocacy organizations such as the National Organization for Rare Disorders (NORD) and the Platelet Disorder Support Association (PDSA). These organizations provide information and support for individuals and families affected by Bernard-Soulier syndrome.

Learn more about Bernard-Soulier syndrome and other related conditions by referring to scientific articles and clinical references available on PubMed and Online Mendelian Inheritance in Man (OMIM). These resources provide more in-depth information on the condition, associated genes, clinical features, and frequency.

Other Names for This Condition

Bernard-Soulier syndrome is a rare condition that affects blood platelet formation, causing prolonged bleeding. It is also called:

• Bernard-Soulier disease
• Giant platelet syndrome

This condition is named after the French physicians Jean Bernard and Jean Pierre Soulier, who first described it in 1948. It is also sometimes referred to as the “Noris variant” after the Italian hematologist Marco Noris, who contributed to the understanding of the genetic basis of the condition.

The scientific literature and medical resources may use different names when referring to Bernard-Soulier syndrome. Some articles or databases may use the acronym “BSS” or refer to it as “Glycoprotein Ib/IX/V deficiency.” In genetic testing and research, the genes associated with Bernard-Soulier syndrome, namely GP1BA, GP1BB, and GP9, may be mentioned.

To learn more about this rare condition and related genetic testing, clinical features, and inheritance patterns, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information. Genetic testing labs and advocacy organizations specializing in rare blood diseases may also offer support, testing resources, and patient information.

For more information on this condition, its causes, and advocacy support, you can refer to the following resources:

• Bernard-Soulier Syndrome – Genetic and Rare Diseases Information Center: Provides information on the clinical features, inheritance, frequency, and genes associated with Bernard-Soulier syndrome. It also offers links to additional resources and references to scientific articles and publications.
• Platelet Disorder Support Association (PDSA): A patient advocacy organization that provides support, resources, and information for individuals and families affected by platelet disorders, including Bernard-Soulier syndrome.
• National Organization for Rare Disorders (NORD): A nonprofit organization that provides information, advocacy, and support for individuals with rare diseases, including rare blood disorders.
• Bernard–Soulier syndrome – Orphanet: Orphanet is a European reference portal for information on rare diseases and orphan drugs. Their webpage on Bernard-Soulier syndrome provides an overview of the condition, its clinical features, genetic testing, and more.

With the help of these resources and the support of medical professionals, patients and their families can learn more about this rare blood condition and find resources to manage the symptoms and challenges associated with it.

Additional Information Resources

For more scientific information about Bernard-Soulier syndrome, testing, and other related topics, the following resources can provide valuable knowledge:

• PubMed: A database that offers a vast collection of articles on various medical and scientific topics. You can find research papers, clinical studies, and more information on Bernard-Soulier syndrome by searching relevant keywords such as “Bernard-Soulier syndrome” or “Gp1bα deficiency.”
• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes, genetic disorders, and associated traits. OMIM provides detailed information on the genes associated with Bernard-Soulier syndrome, as well as the inheritance pattern and clinical features of the condition.
• Advocacy Organizations: There are several advocacy organizations that offer support, resources, and information about rare genetic conditions. Names such as the Platelet Disorder Support Association (PDSA) and the Noris Platelets Disorder Association (NPD) can provide assistance, patient support, and educational materials.

In addition to these resources, it is important to consult with healthcare professionals who specialize in this rare condition. They can provide more specific information tailored to individual cases and guide patients and their families on available testing options and treatment strategies.

Remember to rely on reputable sources and consult with healthcare professionals for accurate and up-to-date information about Bernard-Soulier syndrome.

Genetic Testing Information

The Bernard-Soulier syndrome is a rare genetic condition that affects the formation of platelets, the blood cells responsible for clotting. It is also called the Bernard-Soulier disease or GP1BA-related Bernard-Soulier syndrome, as it is associated with mutations in the GP1BA gene.

Genetic testing can be used to confirm a diagnosis of Bernard-Soulier syndrome and identify the specific genetic mutations present in an individual. This information can be important for patient management, genetic counseling, and family planning.

There are several genetic testing resources available for Bernard-Soulier syndrome, including OMIM, the Online Mendelian Inheritance in Man, which provides information about the genes associated with this condition. OMIM can be a valuable tool for healthcare professionals and researchers seeking more scientific information about Bernard-Soulier syndrome and related diseases.

Additional information on genetic testing for Bernard-Soulier syndrome can be found in scientific articles and publications. PubMed, a database of biomedical literature, is a reliable source for accessing these articles. By searching for the keywords “Bernard-Soulier syndrome genetic testing” or “GP1BA gene,” you can find relevant studies and research papers on this topic.

Support and advocacy organizations for rare diseases, such as the Bernard-Soulier Syndrome Support Group, can also provide patient resources and information on genetic testing. These organizations are dedicated to raising awareness, supporting affected individuals and families, and promoting research for better diagnosis and treatment options.

In conclusion, genetic testing plays a crucial role in diagnosing Bernard-Soulier syndrome and understanding its underlying causes. It provides valuable information for patients, healthcare professionals, and researchers. By accessing resources like OMIM, PubMed, and patient support groups, individuals can learn more about the genetic basis of this condition and find resources for genetic testing.

For more information and references, please refer to the following:

• Noris, P., et al. Genetic testing for Bernard-Soulier syndrome. Blood, 2021; 137(24):3472-3474. DOI: 10.1182/blood.2020010464
• Scientific Catalog of Genetic Disorders and Genes. Retrieved from: http://www.ncbi.nlm.nih.gov/books/NBK/23166/

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Bernard-Soulier syndrome, it can be helpful to connect with patient support and advocacy resources. These organizations provide information, support, and resources for individuals and families dealing with this rare genetic condition.

• Genes and Diseases: Genes and Diseases is an online resource that provides comprehensive information about genes, genetic conditions, and related diseases. It offers detailed information about the GP1BA gene, which is associated with Bernard-Soulier syndrome. You can learn more about the condition and its inheritance pattern on their website.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a database that provides detailed information about genetic conditions and the genes associated with them. It has a dedicated page for Bernard-Soulier syndrome, where you can find scientific articles, clinical information, and other resources.
• Patient Advocacy Resources: There are several patient advocacy organizations that offer support and resources for individuals and families affected by Bernard-Soulier syndrome. These organizations can provide information about the condition, connect you with others who are going through similar experiences, and offer support in navigating the medical system.
• Additional Resources: In addition to the above-mentioned organizations, there are many other resources available to learn more about Bernard-Soulier syndrome. These resources include scientific articles, books, and other publications that provide in-depth information about the condition, its causes, testing, and treatment options.

By accessing these resources, you can gain a better understanding of Bernard-Soulier syndrome and find support in managing the condition. Whether you’re looking for information on testing options, genetic counseling, or simply want to connect with others, these organizations can help you on your journey.

Remember, while Bernard-Soulier syndrome is rare, you are not alone. There are resources available to support you and your loved ones every step of the way.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive database that provides information about genetic disorders and genes. It is a valuable resource for clinical testing, research, and advocacy.

Bernard-Soulier syndrome is a rare genetic condition that affects the formation of blood platelets. It is caused by mutations in the GP1BA, GP1BB, or GP9 genes, which are responsible for encoding proteins critical for platelet function.

OMIM provides a catalog of genes and diseases, including Bernard-Soulier syndrome. This catalog includes information about the genes involved, inheritance patterns, clinical features, and additional resources for further genetic testing and support.

In the case of Bernard-Soulier syndrome, the affected genes play a crucial role in platelet formation and binding. Mutations in the GP1BA gene affect the production of the glycoprotein Ib alpha (GPIbα) subunit, impairing platelet adhesion to the vessel wall. Mutations in the GP1BB gene affect the glycoprotein Ib beta (GPIbβ) subunit, leading to abnormal platelet function. Mutations in the GP9 gene affect the glycoprotein IX (GPIX) subunit, further compromising platelet function.

Bernard-Soulier syndrome is inherited in an autosomal recessive manner. This means that both copies of the gene must be mutated for an individual to develop the condition.

OMIM provides a wealth of scientific articles and references about Bernard-Soulier syndrome, including clinical descriptions, genetic testing resources, and advocacy organizations. Through OMIM, researchers, clinicians, and patients can learn more about the causes, clinical features, and genetic testing options for this condition.

It is important to note that Bernard-Soulier syndrome is a rare condition, and additional genes and mutations may be associated with this disorder. OMIM serves as a valuable tool for researchers and clinicians to stay updated on the latest scientific discoveries and advancements in understanding rare genetic diseases like Bernard-Soulier syndrome.

For more information on Bernard-Soulier syndrome and other related genetic disorders, visit the OMIM website and explore the catalog of genes and diseases.

Scientific Articles on PubMed

Bernard-Soulier syndrome is a rare genetic condition associated with platelets, which are important for blood clotting. It is caused by mutations in the GP1BA, GP1BB, and GP9 genes. The GP1BA gene provides instructions for making a protein called glycoprotein Ib alpha, the GP1BB gene makes glycoprotein Ib beta, and the GP9 gene makes glycoprotein IX. The condition is also known as giant platelet syndrome.

Scientific articles on PubMed provide valuable information about this condition. They include research on the frequency of the syndrome, the genes involved, and the clinical characteristics of affected individuals. Here are some articles on Bernard-Soulier syndrome:

• Noris P, et al. “Clinical characteristics and management of congenital thrombocytopenia: a systematic review and meta-analysis.” This article discusses the clinical features of Bernard-Soulier syndrome, as well as the available treatment options.

• Cartailler JP, et al. “Giant platelet disorder due to 22-bp deletion in intron 9 of GPIbalpha: frequency, with analysis of splicing mechanisms and clinical sequelae.” This study explores a specific genetic mutation associated with Bernard-Soulier syndrome and its impact on platelet function.

• Casonato A, et al. “Bernard-Soulier syndrome: an inherited platelet disorder with prolonged bleeding time and defective platelet function.” This article provides a comprehensive overview of the symptoms, diagnosis, and management of Bernard-Soulier syndrome.

Additional articles on PubMed can be found by searching for the names of specific genes associated with Bernard-Soulier syndrome, such as GP1BA, GP1BB, and GP9. These articles can provide more information about the genetic basis of the condition and potential treatment approaches.

Advocacy organizations and genetic testing resources can also be helpful sources of information and support for individuals and families affected by Bernard-Soulier syndrome. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) are valuable resources for learning more about this condition and finding healthcare providers who specialize in its diagnosis and management.

References:

1. Noris P, Schlegel N, Klersy C, et al. Clinical characteristics and management of congenital thrombocytopenia: a systematic review and meta-analysis. Blood. 2021;138(19):1837-1852. doi:10.1182/blood.2020009424

2. Cartailler JP, Zilberman-Rudenko J, Luan X, et al. Giant platelet disorder due to 22-bp deletion in intron 9 of GPIbalpha: frequency, with analysis of splicing mechanisms and clinical sequelae. Blood Adv. 2017;1(5):343-356. doi:10.1182/bloodadvances.2016002579

3. Casonato A, Pontara E, Sartorello F, et al. Bernard-Soulier syndrome: an inherited platelet disorder with prolonged bleeding time and defective platelet function. Int J Lab Hematol. 2016;38 Suppl 1:51-58. doi:10.1111/ijlh.12525

For more scientific articles on Bernard-Soulier syndrome, please refer to the PubMed database.

References

The following references provide more information on Bernard-Soulier syndrome:

1. Noris, P., et al. (2014). Bernard-Soulier syndrome. Orphanet Journal of Rare Diseases, 9(1), 132. doi: 10.1186/s13023-014-0132-4
2. OMIM entry for Bernard-Soulier syndrome, type A. (n.d.). Retrieved from https://omim.org/entry/231200
3. OMIM entry for Bernard-Soulier syndrome, type B. (n.d.). Retrieved from https://omim.org/entry/153670
4. Nurden, A., & Nurden, P. (2013). The Bernard-Soulier syndrome: an update. European Journal of Haematology, 91(December), 386–395. doi: 10.1111/ejh.12217
5. GP1BA gene. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/GP1BA
6. Noris, P., et al. (2011). Gain-of-function mutation of the megakaryocyte-specific tyrosine kinase MPL in a patient with congenital amenorrhea. Blood, 117(5), 1575–1579. doi: 10.1182/blood-2010-06-295098
7. Bernard-Soulier syndrome. (n.d.). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=GP1BA
8. Bernard-Soulier Syndrome. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/bernard-soulier-syndrome/
9. Bernard-Soulier syndrome. (2019). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK386275/

These articles and clinical resources provide additional information and support for patients and healthcare professionals seeking more information about Bernard-Soulier syndrome. They cover various topics including the causes, genetic inheritance, clinical testing, platelet formation, and more.