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The GP1BA gene encodes the glycoprotein Ib alpha (GPIbα), which is a protein that is expressed on the surface of platelets. It forms a complex with other proteins, known as the GPIb-IX-V complex, and is involved in the binding of platelets to von Willebrand factor, a protein that is important for blood clot formation. Mutations in the GP1BA gene can lead to a rare genetic disorder called pseudo-von Willebrand disease, also known as Bernard-Soulier syndrome. This disorder impairs the function of GPIbα and reduces the number of GPIb-IX-V complexes on the surface of platelets, resulting in abnormal clot formation and bleeding tendencies.

Testing for mutations in the GP1BA gene can be used to diagnose pseudo-von Willebrand disease and other related conditions. This can be done through genetic testing, which analyzes the DNA sequence of the GP1BA gene to identify any changes or mutations. The results of these tests can provide valuable information for managing the health of individuals with pseudo-von Willebrand disease and other related disorders.

Additional information about the GP1BA gene and related conditions can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the genetic basis of pseudo-von Willebrand disease, as well as other diseases and disorders that are related to abnormalities in the GPIb-IX-V complex. They also list the names of other genes that interact with GP1BA and provide references to further articles and tests.

Genetic changes in the GP1BA gene can lead to various health conditions. The GP1BA gene provides instructions for making a protein called glycoprotein Ib alpha (GPIbα), which is a component of a larger complex called glycoprotein Ib-IX-V (GPIb-IX-V). This complex is found on the surface of blood platelets and plays a key role in normal blood clotting.

Reduced or altered binding of GPIbα to other proteins can impair the function of this complex. Without proper function of the GPIb-IX-V complex, blood clotting cannot occur effectively, leading to a number of related disorders.

One of the health conditions related to genetic changes in the GP1BA gene is a condition called Bernard-Soulier syndrome. This syndrome is characterized by a decrease in the number and function of blood platelets, which are essential for normal clotting.

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In addition to Bernard-Soulier syndrome, genetic changes in the GP1BA gene can also lead to a variant called platelet-type von Willebrand disease. This disease is similar to von Willebrand disease, another blood clotting disorder, but it is not caused by changes in the von Willebrand factor gene. Instead, it is caused by changes in the GP1BA gene that affect the interaction between GPIbα and von Willebrand factor.

To diagnose these conditions, additional tests such as platelet function testing or genetic testing may be necessary. The Online Mendelian Inheritance in Man (OMIM) database provides more information on the GP1BA gene and related diseases. References to scientific articles can be found in the PubMed database.

Genetic changes in the GP1BA gene and related health conditions are listed in the OMIM and Genetic Testing Registry databases. These resources can provide more detailed information on the specific changes and the associated health conditions.

Health Conditions Related to Genetic Changes in the GP1BA Gene:

  • Bernard-Soulier syndrome
  • Platelet-type von Willebrand disease

Online Resources for Genetic Testing and Information:

  1. Online Mendelian Inheritance in Man (OMIM) database
  2. Genetic Testing Registry
  3. PubMed database

Bernard-Soulier syndrome

Bernard-Soulier syndrome (BSS) is a genetic disorder that affects blood clotting. It is caused by changes in the GP1BA gene, which encodes the glycoprotein Ib alpha (GPIbα) subunit of the platelet surface receptor complex called GPIb-IX-V. This receptor complex interacts with von Willebrand factor, facilitating platelet adhesion and aggregation.

BSS is a rare disorder, listed in the Online Mendelian Inheritance in Man (OMIM) genetic database. It is also known as the giant platelet disorder, because individuals with BSS have abnormally large platelets, which impair blood clot formation.

Testing for BSS involves genetic tests that can identify changes or variants in the GP1BA gene. These tests can be performed using blood samples and are available in specialized laboratories.

See also  Sheldon-Hall syndrome

Individuals with BSS may experience symptoms such as easy bruising, excessive bleeding, and prolonged bleeding times. These symptoms can vary in severity among affected individuals.

There is currently no cure for BSS, and treatment is focused on managing the symptoms and preventing complications related to bleeding. This can include the use of platelet transfusions, medications to stimulate platelet production, and other supportive measures.

If you or a loved one has been diagnosed with BSS, it is important to seek guidance from healthcare professionals with expertise in rare genetic conditions. They can provide further information and resources on managing this disorder.

For additional scientific articles and resources on BSS and related genetic disorders, consider referring to databases such as PubMed, OMIM, and other online scientific catalogs. These resources can provide further information on the genetic basis, clinical features, and management of BSS.

Other disorders

In addition to Bernard-Soulier syndrome, mutations in the GP1BA gene have been associated with other complex genetic conditions related to platelet function.

One such condition is the platelet-type von Willebrand disease (PT-VWD), which is characterized by abnormally high binding of von Willebrand factor to platelets. This condition can occur with or without the presence of bleeding symptoms.

Another related disorder is pseudo-von Willebrand disease, which is caused by a variant in the GP1BA gene that impairs the binding of von Willebrand factor to platelets. This variant results in the reduction of GP Ibα, a piece of the GP Ib-IX-V receptor complex on the surface of platelets.

For additional information on these disorders and genetic testing, a number of resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the GP1BA gene and related disorders. The Genetic Testing Registry (GTR) also lists genetic tests for GP1BA-related disorders.

Scientific articles and references related to these disorders can be found on PubMed. However, it is important to note that a genetic variant in the GP1BA gene alone does not necessarily indicate the presence of a specific disease or disorder. Genetic testing and additional clinical information are needed to make a definitive diagnosis.

Related Disorders
Disorder Description
Bernard-Soulier syndrome Impaired clot formation due to reduced expression of the GP Ib-IX-V receptor complex
Platelet-type von Willebrand disease (PT-VWD) Abnormally high binding of von Willebrand factor to platelets
Pseudo-von Willebrand disease Impaired binding of von Willebrand factor to platelets due to a variant in the GP1BA gene

It is important for individuals with a known or suspected GP1BA gene variant to consult with a healthcare provider or genetic counselor to understand the implications for their health and to determine appropriate testing and management strategies.

Other Names for This Gene

This gene is also known by other names:

  • GP1BA: Glycoprotein Ib Platelet Subunit Alpha
  • GPIbα: Glycoprotein Ib Alpha
  • GPIb: Glycoprotein Ib Platelet Subunit
  • Bernard-Soulier Syndrome, Type A1: A bleeding disorder caused by mutations in the GP1BA gene
  • Pseudo-von Willebrand Disease, Type 2B: A genetic disorder that impairs platelet function and is caused by mutations in the GP1BA gene
  • Platelet-Type Clotting Disorder, Included: A condition characterized by abnormal blood clotting due to changes in the GP1BA gene
  • GP1BA Related Disorders: Genetic disorders and conditions related to mutations in the GP1BA gene
  • Platelet Glycoprotein Ib Complex: A protein complex found on the surface of platelets, consisting of multiple subunits including the GP1BA gene product

These alternative names for the GP1BA gene can be found in various scientific resources and databases such as OMIM, PubMed, and the Genetic Testing Registry. They provide additional information and references for further reading on genetic diseases and conditions associated with this gene.

Additional Information Resources

Below are some additional resources that provide information and support related to the GP1BA gene and associated conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the GP1BA gene, as well as other genes and genetic disorders. It includes a wealth of scientific articles and references to help further understand the role of the GP1BA gene in diseases.
  • PubMed: PubMed is a searchable database of scientific articles and publications. Using keywords such as “GP1BA gene” or “Bernard-Soulier syndrome,” you can find relevant articles that discuss the genetic variant and its implications.
  • Genetic Testing Registries: Several registries and databases exist that catalog information on genetic testing for the GP1BA gene, as well as other genes. These resources can help individuals find testing options and connect with healthcare professionals who specialize in genetic disorders.
  • Pseudo-von Willebrand disease: This condition is characterized by the impaired interaction between the GP1BA gene and the von Willebrand factor. Resources on this condition may provide insights into the genetic factors at play and how they relate to the GP1BA gene.
  • Platelet-type von Willebrand disease: This is another condition that affects the GP1BA gene and disrupts the function of platelets. Information on this condition can shed light on the specific changes or mutations that can occur in the GP1BA gene.
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These resources can be valuable sources of information for individuals seeking to learn more about the GP1BA gene and associated conditions. They can help individuals understand the genetic basis of certain diseases and find testing options if needed.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool in determining the presence of genetic changes or variations that may be associated with certain diseases or conditions. The Genetic Testing Registry (GTR) catalogs a number of tests focused on genes related to various health disorders, including the GP1BA gene. GP1BA is a gene that encodes the glycoprotein Ibalpha (GPIbα) polypeptide, which is a component of the platelet-type pseudo-von Willebrand disease (PSVWD) complex.

This gene interacts with other genes, such as GP1BB and GP9, to form the GPIb-IX-V complex on the surface of platelets. Changes in the GP1BA gene can lead to a disorder called Bernard-Soulier syndrome (BSS), which impairs platelet function and can result in reduced blood clot formation.

The GTR provides information on tests that can detect variations in the GP1BA gene and related conditions. These tests may include DNA sequencing, targeted mutation analysis, and other genetic testing techniques. The GTR lists the names and descriptions of these tests, as well as additional resources and references for further scientific articles and information.

Patients and healthcare providers can use the GTR to find information on available genetic tests for the GP1BA gene and related disorders. The GTR offers a comprehensive catalog of tests, allowing individuals to access the most up-to-date information on testing options and resources. By utilizing the GTR, patients and healthcare providers can make informed decisions about genetic testing and obtain the necessary information to manage and understand genetic conditions.

Tests Listed in the Genetic Testing Registry for GP1BA Gene:
Test Name Description Associated Conditions References
GP1BA gene sequencing This test analyzes the entire GP1BA gene for any genetic changes or variations. Bernard-Soulier syndrome, platelet-type pseudo-von Willebrand disease PubMed: https://www.ncbi.nlm.nih.gov/pubmed
Targeted mutation analysis of GP1BA gene This test focuses on specific regions of the GP1BA gene to identify known genetic changes. Bernard-Soulier syndrome OMIM: https://www.omim.org/
Platelet glycoprotein GPIb/IX/V complex analysis This test examines the presence and function of the GPIb-IX-V complex on platelet surfaces. Bernard-Soulier syndrome Databases: Genetic Testing Registry

It is important to note that the information provided in the GTR is constantly evolving, and new tests may be added or existing tests may be updated. Therefore, it is recommended to regularly consult the GTR for the most accurate and up-to-date information on genetic testing options for the GP1BA gene and related disorders.

Scientific Articles on PubMed

Platelet-type disorders are genetic disorders related to the GP1BA gene, which encodes the glycoprotein Ib alpha (GPIbα) subunit of the GPIb-IX-V complex on the surface of blood platelets. These disorders, such as Bernard-Soulier syndrome and pseudo-von Willebrand disease, are characterized by reduced or impaired platelet clotting ability.

PubMed is a comprehensive catalog of scientific articles and references on various diseases and genetic conditions. Many scientific articles related to the GP1BA gene and platelet-type disorders can be found on PubMed. These articles provide valuable information on the genetic changes, additional tests for diagnosis, and interactions of the GP1BA gene with other genes and proteins.

Testing for platelet-type disorders, such as Bernard-Soulier syndrome and pseudo-von Willebrand disease, can be done using genetic tests that analyze the GP1BA gene. OMIM, a genetic disorder database, also provides information on these disorders and the GP1BA gene. These resources can aid in the diagnosis and treatment of patients with platelet-type disorders.

References:

  • Information on the GP1BA gene and platelet-type disorders. (PubMed)
  • OMIM entry on platelet-type disorders
  • Additional resources on genetic testing and diagnosis of platelet-type disorders (OMIM)

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. This article focuses on the GP1BA gene, which is listed in the OMIM database.

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GP1BA gene encodes the glycoprotein Ib alpha (gpibα) polypeptide subunit of the platelet surface glycoprotein Ib-IX-V complex. This protein plays a crucial role in the binding of platelets to the von Willebrand factor, a protein involved in clot formation. Mutations in the GP1BA gene can lead to various platelet-type bleeding disorders, including Bernard-Soulier syndrome.

Bernard-Soulier syndrome is a genetic disorder characterized by a reduced number and function of platelets, leading to prolonged bleeding and clotting difficulties. Patients with this syndrome have changes in the GP1BA gene, resulting in a dysfunctional gpibα protein. Without proper binding of platelets to the von Willebrand factor, clot formation is impaired, increasing the risk of bleeding.

OMIM provides additional information on the GP1BA gene, including its related disorders, such as pseudo-von Willebrand disease and other platelet-type bleeding disorders. It also interacts with other genes and proteins involved in platelet function and clot formation.

OMIM is a valuable resource for geneticists, researchers, and healthcare professionals. It serves as a repository of information on genes, diseases, and their associated genetic changes. OMIM references scientific articles and databases such as PubMed, allowing users to access relevant research and clinical findings.

In summary, the GP1BA gene, listed in the OMIM catalog, plays a crucial role in platelet function. Mutations in this gene can result in various platelet-type bleeding disorders, such as Bernard-Soulier syndrome. OMIM provides comprehensive information on these genes and diseases, serving as a valuable resource for genetic research and clinical testing.

Gene and Variant Databases

In the field of genetic research, several databases have been established to collect and curate information on genes and variants related to various diseases and conditions. These databases serve as valuable resources for scientists, clinicians, and individuals interested in understanding the genetic basis of diseases and their implications.

One such database is the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic disorders and their associated genes. It includes references to scientific articles, genetic tests, and other resources for further reading.

For the GP1BA gene and its related disorders, there are specific databases that focus on platelet-type bleeding disorders. These databases list the names and variant information for genes related to Bernard-Soulier syndrome and pseudo-von Willebrand disease, both of which are characterized by changes in the GP1BA gene.

The GP1BA gene encodes the glycoprotein Ib alpha (GPIbα) subunit of the GPIb-IX-V complex on the surface of platelets. Variants in this gene can lead to reduced binding to von Willebrand factor, which impairs platelet function and clot formation.

Some of the databases that provide information on the GP1BA gene and its variants include:

  • GeneReviews: Provides in-depth information on genetic diseases and the genes associated with them. It includes clinical descriptions, diagnostic testing information, and management guidelines.
  • PubMed: A resource for accessing scientific articles on a wide range of topics, including genetics and related diseases. Many studies on GP1BA gene variants and related platelet disorders can be found here.
  • GENESIS: A genetic variant database that focuses on variants associated with inherited diseases. It provides information on the frequency of variants in different populations and their clinical significance.
  • Human Gene Mutation Database (HGMD): A comprehensive collection of published mutations in human genes associated with disease. It includes information on the functional consequences of mutations and their disease associations.

These databases can be used to gather information on specific GP1BA gene variants, their clinical significance, and their association with platelet disorders. They can also provide references to scientific articles and testing resources for further investigation.

In summary, gene and variant databases are valuable resources for understanding the genetic basis of diseases and conditions. For the GP1BA gene and its associated platelet disorders, several databases provide information on the gene, its variants, and their clinical implications. Researchers, clinicians, and individuals interested in genetic health can utilize these resources for further study and testing.

References

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