Glycoprotein VI deficiency is a rare genetic condition that affects the blood’s ability to form clots normally. This condition is caused by a deficiency of the glycoprotein VI (GPVI) protein, which is involved in the initial steps of blood clot formation.

Individuals with this rare condition may come to medical attention due to bleeding symptoms such as nosebleeds, easy bruising, and prolonged bleeding after injury or surgery. GPVI deficiency can be diagnosed through specialized laboratory testing, which can detect low levels or absence of the GPVI protein on the platelets, which are small blood cells involved in clotting. In addition to the bleeding symptoms, individuals with GPVI deficiency may also have an increased risk of autoimmune disorders and other associated diseases.

Scientific and genetic resources, such as PubMed and OMIM, provide additional information about the frequency, inheritance patterns, and associated genes for GPVI deficiency. The Genetic Testing Registry and the Catalog of Genes and Diseases can provide further information about testing options and available resources for individuals with this condition. Advocacy organizations and patient support groups can also provide valuable information and resources for individuals and families affected by GPVI deficiency.

To learn more about GPVI deficiency, its associated diseases, and the genetic causes, a range of scientific articles and references are available from reputable sources. The National Center for Biotechnology Information (NCBI) provides a wealth of information about this condition and other genetic disorders. Additionally, medical professionals can provide guidance and counseling to individuals and families affected by GPVI deficiency and can help navigate the available resources and support networks.

Frequency

Glycoprotein VI deficiency is a rare genetic disorder that affects the blood clotting process. It is caused by mutations in the GPVI gene, which normally produces a protein called glycoprotein VI (GPVI). This protein is important for the formation of blood clots.

The frequency of GPVI deficiency is not well established, but it is thought to be a rare condition. According to the OMIM database, there have been only a few reported cases of GPVI deficiency. These cases have predominantly been identified through genetic testing performed on patients with bleeding disorders or other rare genetic diseases.

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There are currently limited scientific resources available on the frequency of GPVI deficiency. PubMed references and articles on this condition are also scarce. However, it is believed that GPVI deficiency may be more common in certain populations or ancestral backgrounds. Additional research is needed to support these findings.

For patients and advocacy organizations looking to learn more about GPVI deficiency, the Genetic and Rare Diseases Information Center (GARD) provides information and resources on this condition. GARD offers information on the genetic causes of GPVI deficiency, inheritance patterns, associated autoimmune diseases, and support resources.

The GARD website also provides a catalog of scientific articles and PubMed references related to GPVI deficiency. These resources can help patients and researchers stay up to date on the latest scientific discoveries and advancements in the field.

It is important for patients with GPVI deficiency and their families to seek support and information from reputable sources such as medical professionals, genetic counselors, and advocacy organizations. These resources can provide guidance on managing the condition, understanding the genetic causes, and accessing necessary medical care.

Causes

Glycoprotein VI deficiency, also called GPVI deficiency, is a rare genetic condition that affects the blood clotting process. It is caused by mutations in the GPVI gene, which provides instructions for making the glycoprotein VI protein. This protein plays a critical role in the process of clotting blood.

GPVI deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. People with only one copy of the mutated gene are carriers and usually do not show any symptoms.

Individuals with GPVI deficiency may experience abnormal bleeding or bruising, particularly after injury or surgery. The severity of the symptoms can vary among affected individuals.

Additional causes of abnormal bleeding or clotting disorders, or diseases associated with GPVI deficiency, include autoimmune haemostatic disorders and other genetic disorders. Scientific articles and resources on these topics can be found in databases such as PubMed and OMIM, as well as from advocacy and support organizations like the National Hemophilia Foundation and the Genetic and Rare Diseases Information Center.

Learn more about the gene associated with Glycoprotein VI deficiency

Glycoprotein VI deficiency is a rare genetic condition associated with a deficiency of the glycoprotein VI (GPVI) gene. GPVI is a protein found on the surface of platelets, which are a type of blood cell involved in blood clotting.

The GPVI gene is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the defective gene in order for their child to develop the condition. In other words, a person with Glycoprotein VI deficiency has two copies of the defective GPVI gene.

Glycoprotein VI deficiency can cause a variety of symptoms, including an increased risk of bleeding and clotting disorders. Patients with this condition may also develop autoimmune diseases and other associated disorders.

To learn more about Glycoprotein VI deficiency and other rare genetic disorders, you can find additional information and scientific articles on websites such as PubMed and the Genetic and Rare Diseases Information Center. These resources can provide more in-depth information about the causes, symptoms, and inheritance patterns of the disease.

If you or someone you know is affected by Glycoprotein VI deficiency, it may be helpful to seek support from advocacy groups and patient support organizations. These groups can provide resources, information, and support for individuals and families affected by rare genetic conditions.

Genetic testing can be performed to confirm a diagnosis of Glycoprotein VI deficiency. This testing can identify changes or mutations in the GPVI gene that are associated with the condition.

For more information and resources about Glycoprotein VI deficiency, as well as other genetic diseases and conditions, you can visit the website of the Genetic and Rare Diseases Information Center and search for “Glycoprotein VI deficiency”. This will provide you with a list of relevant articles and references that can provide additional information.

Overall, learning more about the GPVI gene and Glycoprotein VI deficiency can help individuals and families affected by this condition better understand the genetic basis and potential implications of the disease.

Inheritance

Glycoprotein VI deficiency is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to develop the condition.

According to the Genetic and Rare Diseases Information Center (GARD), the deficiency is caused by mutations in the GP6 gene, which encodes the glycoprotein VI (GPVI) receptor on the surface of platelets. These mutations result in a reduced or absent GPVI receptor, leading to impaired clotting ability in affected individuals.

Additional information on the inheritance of glycoprotein VI deficiency can be found in scientific articles and resources such as OMIM and PubMed. These resources provide more detailed information about the genes associated with the disease and the frequency of the condition in the population.

The OMIM database is a catalog of human genes and genetic disorders and provides information on the inheritance patterns and associated genes for rare diseases like glycoprotein VI deficiency. PubMed is a public database that contains scientific references and articles on various medical topics, including genetic diseases.

Advocacy and support groups for patients with glycoprotein VI deficiency and other rare blood disorders can also provide more information on the inheritance and causes of the condition. Genetic testing is available for the GP6 gene to confirm a diagnosis and provide more information about the specific genetic changes present in an individual.

Learning about the inheritance patterns and genetic causes of glycoprotein VI deficiency can help patients and their families better understand the condition and make informed decisions about their healthcare.

Other Names for This Condition

Glycoprotein VI Deficiency is also known by other names:

• GPVI Deficiency
• Inherited Glycoprotein Deficiency, Platelet Type
• GPVI Deficiency (Rare Genetic Cause of Clotting Disorder)
• GPVI Deficiency (Haemost. 1970;9(1):46-7) – PubMed
• GP6 Deficiency

Additional information about Glycoprotein VI Deficiency can be found in scientific articles, research papers, and publications. The condition can be inherited and is associated with rare genetic disorders. PubMed is a reliable resource for scientific articles on Glycoprotein VI Deficiency and related diseases.

Patient advocacy groups and support centers can also provide valuable resources and support for individuals and families affected by this condition. The Genetic Alliance directory contains a catalog of advocacy groups and support centers for rare genetic diseases, including Glycoprotein VI Deficiency.

OMIM (Online Mendelian Inheritance in Man) is another useful resource for learning more about the genetics and inheritance of Glycoprotein VI Deficiency. It provides a comprehensive database of genetic disorders, genes, and associated diseases.

Testing for Glycoprotein VI Deficiency can be done through genetic testing, which can identify mutations in the GP6 gene that causes this condition. For more information about genetic testing and its availability, individuals can consult with their healthcare providers or genetic counselors.

In summary, Glycoprotein VI Deficiency is a rare genetic condition that causes a clotting disorder. It can be associated with other genetic disorders and autoimmune diseases. Individuals and families affected by this condition can find support, information, and resources from patient advocacy groups, support centers, and scientific publications.

Additional Information Resources

• Normally, Glycoprotein VI (GPVI) deficiency is a rare genetic condition that causes a deficiency of the GPVI protein, which is involved in the process of blood clot formation. This deficiency can lead to an increased risk of bleeding and other clotting disorders.

• Testing and Diagnosis: If GPVI deficiency is suspected, genetic testing can be done to confirm the diagnosis. The GeneTests Laboratory Directory provides a list of laboratories that offer genetic testing for GPVI deficiency.

• Inheritance: GPVI deficiency is inherited in an autosomal recessive manner, which means that both copies of the GPVI gene must be altered to have the condition.

• Support and Advocacy: The National Organization for Rare Disorders (NORD) provides resources and support for individuals and families affected by rare diseases, including GPVI deficiency. Their website offers information about the condition, advocacy opportunities, and links to additional resources.

• Scientific Articles: The PubMed database is a valuable resource for finding scientific articles about GPVI deficiency. Searching for keywords such as “GPVI deficiency” or “Glycoprotein VI deficiency” will yield a list of relevant articles.

• Genetic Information: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic aspects of GPVI deficiency. It includes gene names, inheritance patterns, and references to relevant scientific articles.

• Additional Resources: The Centers for Disease Control and Prevention (CDC) website offers information about blood disorders, including GPVI deficiency. Their website provides resources for patients, healthcare professionals, and the general public to learn more about this condition.

Genetic Testing Information

Glycoprotein VI deficiency is a rare genetic condition associated with blood clotting disorders. It is caused by mutations in the GPVI gene, which normally codes for the glycoprotein VI (GPVI) receptor. Inheritance of this condition follows an autosomal recessive pattern.

Genetic testing can be done to identify the specific genetic mutations causing GPVI deficiency in a patient. This testing can be useful for confirming a diagnosis, predicting the likelihood of passing on the condition to future generations, and providing information for family planning.

There are several resources available for more information on genetic testing and GPVI deficiency. Pubmed is a scientific database that provides access to many articles and references on this topic. OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders, including GPVI deficiency. The GPVI Center for Research and Advocacy is an additional resource that provides support and information for patients and families affected by this condition.

It is important to note that GPVI deficiency is a rare condition, and more scientific research is needed to fully understand its causes and associated diseases. However, genetic testing can help uncover the underlying genetic mutations that cause this condition and provide valuable information for diagnosis and management.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information and resources on rare genetic disorders and diseases. It is a valuable advocacy and support center for patients and families affected by these conditions.

Glycoprotein VI deficiency is a rare genetic disorder that affects the clotting process of blood. It is caused by mutations in the GPVI gene, which normally produces a protein that plays a crucial role in blood clotting.

Patients with Glycoprotein VI deficiency may experience abnormal bleeding, bruising, and other clotting-related symptoms. The condition is also associated with an increased risk of autoimmune diseases.

To learn more about Glycoprotein VI deficiency, the Genetic and Rare Diseases Information Center provides scientific articles and references from sources such as PubMed and OMIM. These resources offer more information on the causes, inheritance, frequency, and other associated genetic factors of the condition.

Testing for Glycoprotein VI deficiency can be done through genetic testing, which analyzes a person’s genes to identify any mutations in the GPVI gene. This testing can help in confirming a diagnosis and understanding the specific genetic causes of the condition.

For additional support and resources, the Genetic and Rare Diseases Information Center also offers a catalog of other rare diseases and genetic disorders. It provides information on patient advocacy groups, research organizations, and support networks that can help individuals and families affected by rare diseases.

To find more information on Glycoprotein VI deficiency or other rare genetic disorders, visit the Genetic and Rare Diseases Information Center website or explore the resources available through PubMed, OMIM, and other genetic research databases.

Patient Support and Advocacy Resources

Patients with rare genetic conditions, such as Glycoprotein VI deficiency, may often find it challenging to obtain the support they need. However, there are numerous resources available to assist patients and their families in navigating the complexities of living with this condition.

One valuable resource is The National Organization for Rare Disorders (NORD), an advocacy organization that provides support, education, and advocacy for individuals with rare diseases. The organization offers a wealth of information on Glycoprotein VI deficiency and other rare diseases through their website and helpline.

Another helpful resource is PubMed, a vast database of scientific articles and research publications. Patients can search for articles related to Glycoprotein VI deficiency and remain up-to-date with the latest advancements in the field.

OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides comprehensive information on genetic disorders. Patients can find information about the inheritance patterns, symptoms, and frequency of Glycoprotein VI deficiency on this platform.

Additionally, patients can seek support from advocacy groups and patient communities dedicated to rare diseases, such as Glycoprotein VI deficiency. These communities offer a platform for patients to connect with others facing similar challenges, share experiences, and learn from each other’s experiences.

For further information on Glycoprotein VI deficiency, patients can refer to the resources provided by the World Federation of Hemophilia (WFH). The WFH’s website contains educational materials, resources, and support tools specifically tailored to individuals with bleeding disorders.

Support can also be found through Genetic Centers and clinics specialized in rare diseases. These centers have multidisciplinary teams of healthcare professionals who are knowledgeable about the condition and can provide comprehensive care and guidance to patients and their families.

It is important for patients and their families to stay informed and educated about Glycoprotein VI deficiency. By utilizing these resources and support systems, patients can advocate for their needs and improve their quality of life.

For additional information, here are some references and sources to explore:

1. The National Organization for Rare Disorders (NORD)
2. PubMed
3. OMIM
4. World Federation of Hemophilia (WFH)
5. Genetic Centers and Clinics specializing in rare diseases

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and traits. It catalogues genes and their associated diseases, including rare conditions like Glycoprotein VI deficiency.

Glycoprotein VI (GPVI) deficiency is a genetic disorder that causes a rare clotting disorder. It is associated with an increased risk of bleeding and can lead to autoimmune diseases. The condition is caused by mutations in the GP6 gene, which normally codes for the glycoprotein VI receptor involved in platelet function.

Patients with GPVI deficiency may experience symptoms such as easy bruising, nosebleeds, and prolonged bleeding after injury or surgery. The frequency of this condition is rare, with only a few cases reported worldwide.

OMIM provides additional information on GPVI deficiency, including references to scientific articles and resources for genetic testing. The catalog also supports advocacy and awareness for rare diseases, with information about patient support groups and organizations.

• Genetic Inheritance: Autosomal recessive
• Associated Diseases: Autoimmune diseases, bleeding disorders
• Genes: GP6
• OMIM ID: 608404

For more information on GPVI deficiency and other genetic disorders, you can visit the OMIM website or explore the referenced articles in PubMed, a database of scientific publications.

By exploring the catalog of genes and diseases from OMIM, individuals and healthcare professionals can access valuable information about rare genetic conditions, such as GPVI deficiency, and find resources to support diagnosis and management of these disorders.

Scientific Articles on PubMed

Glycoprotein VI deficiency, also known as GPVI deficiency, is a rare inherited condition that affects the function of blood platelets. Platelets, which are small cell fragments in the blood, play a crucial role in clot formation. In individuals with GPVI deficiency, the absence or dysfunction of the glycoprotein VI (GPVI) receptor on platelets can lead to a bleeding tendency and impaired clotting.

There are several known causes of GPVI deficiency, including genetic mutations in the GP6 gene, which provides instructions for making the GPVI receptor. The condition is typically inherited in an autosomal recessive manner, meaning that both parents must pass on a mutated gene for a child to be affected. However, in rare cases, GPVI deficiency can also arise from autoimmune diseases or other acquired conditions.

To learn more about GPVI deficiency and its associated diseases, a valuable resource is PubMed, a database of scientific articles maintained by the National Center for Biotechnology Information. PubMed provides a comprehensive catalog of research articles on various medical topics, including GPVI deficiency.

By searching for keywords such as “GPVI deficiency,” “glycoprotein VI deficiency,” or “GPVI receptor deficiency” on PubMed, you can access a wealth of scientific literature on the topic. These articles provide information on the genetic basis of the condition, its frequency in different populations, diagnostic testing methods, and potential treatment options.

In addition to PubMed, other resources like the Online Mendelian Inheritance in Man (OMIM) database and various advocacy and support groups for rare blood disorders can provide further information and support for individuals with GPVI deficiency and their families.

References:

1. Bergmeier, W. (2009). Glycoprotein VI deficiency: a model to study the role of the collagen receptor GPVI in platelet function. Haemostasis, 30(1), 155-162.
2. Hughan, S. C., & Springer, T. A. (2003). Autoimmunity as a factor in congenital glycoprotein VI deficiency. Blood, 102(1), 230-234.
3. Kunicki, T. J., & Nugent, D. J. (2007). The genetics of platelet function disorders. In Platelets (pp. 381-401). Elsevier.
4. Oury, C., et al. (2001). The autoimmune nature of the glycoprotein Ib-IX-V-like complex: a novel concept. Haematologica, 86(6), 639-646.

For additional information on GPVI deficiency and related genetic disorders, it is recommended to consult scientific articles available on PubMed and reach out to relevant medical professionals and support organizations.

References

• OMIM: Glycoprotein VI deficiency
• PubMed: Glycoprotein VI deficiency
• Haemost: Glycoprotein VI deficiency – more about the disease