The ITGB3 gene is a gene that is only found in humans. It is located within the Glanzmann thrombasthenia (GT) blood clotting disorder. This gene is responsible for the production of the beta3 subunit of the glycoprotein IIb/IIIa complex on the surface of platelets. Variants in the ITGB3 gene can lead to functional changes, which can result in platelet-type bleeding disorders or other related conditions.
Information about the ITGB3 gene can be found in various scientific databases, such as OMIM and PubMed. These resources provide additional references and articles on the genetic changes associated with this gene, as well as rare disorders and conditions listed in their catalog. The ITGB3 gene is formed by the combination of two other genes, ITGA2B and ITGB3, which are related to blood clot formation and normal platelet function.
Testing for variants in the ITGB3 gene can be done to diagnose thrombasthenia or other platelet-related disorders. This testing can help identify changes in the gene that may affect its function and lead to abnormal clot formation. The ITGB3 gene registry is a database that collects information on people with known variants in this gene, providing valuable resources for researchers and healthcare professionals.
Health Conditions Related to Genetic Changes
Genetic changes in the ITGB3 gene can lead to various health conditions. The ITGB3 gene is responsible for producing a glycoprotein called integrin beta-3, which is involved in the formation of blood clots.
One health condition related to genetic changes in the ITGB3 gene is Glanzmann thrombasthenia. This is a rare disorder characterized by a deficiency or dysfunction of the integrin beta-3 protein. People with Glanzmann thrombasthenia may experience abnormal bleeding, easy bruising, and prolonged bleeding time.
Another health condition related to genetic changes in the ITGB3 gene is platelet-type thrombasthenia. This is a rare variant of Glanzmann thrombasthenia, in which the integrin beta-3 protein is produced but is dysfunctional. People with this variant exhibit similar symptoms to Glanzmann thrombasthenia.
Additional health conditions associated with genetic changes in the ITGB3 gene may exist, but they are not yet well-documented in scientific articles. Therefore, further research is needed to understand the full extent of the impact of ITGB3 gene mutations on human health.
For more information on health conditions related to genetic changes in the ITGB3 gene, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific databases can be consulted. These resources provide references to articles and studies that contain valuable information on these conditions.
Testing for genetic changes in the ITGB3 gene can be done through genetic testing laboratories and clinics. These tests can help diagnose conditions such as Glanzmann thrombasthenia and platelet-type thrombasthenia. Genetic testing can also be useful for identifying carriers of these conditions and for providing information on the risk of passing them on to future generations.
In conclusion, genetic changes in the ITGB3 gene can result in various health conditions related to the formation of blood clots. Glanzmann thrombasthenia and platelet-type thrombasthenia are two disorders associated with genetic changes in this gene. Further research is needed to fully understand the impact of ITGB3 gene mutations on human health and to identify any additional related conditions.
Glanzmann thrombasthenia
Glanzmann thrombasthenia is a rare blood disorder caused by changes (variants) in the ITGB3 gene. It is also known as platelet-type von Willebrand disease (PT-VWD). Glanzmann thrombasthenia is characterized by a functional defect in the glycoprotein IIb/IIIa (GPIIb/IIIa) complex on the surface of platelets, which is essential for clot formation.
In people with Glanzmann thrombasthenia, platelets are unable to bind to each other and form clots properly. This can result in prolonged bleeding, particularly after injuries or surgeries. Glanzmann thrombasthenia is inherited in an autosomal recessive manner, meaning that both copies of the ITGB3 gene must have variants in order to develop the disorder.
The ITGB3 gene provides instructions for making a protein called integrin β3. This protein is part of the GPIIb/IIIa complex on the surface of platelets. Variants in the ITGB3 gene can lead to a partial or complete loss of function of the GPIIb/IIIa complex, preventing normal clot formation.
Tests for Glanzmann thrombasthenia can be done through genetic testing, which can identify variants in the ITGB3 gene. Diagnosis is often confirmed by functional testing of platelet aggregation. Additional testing may be done to rule out other disorders with similar symptoms, such as von Willebrand disease or other platelet disorders.
Glanzmann thrombasthenia is a rare condition, with an estimated incidence of 1 in 1 million individuals. It has been reported in individuals of various ethnic backgrounds.
Publications in scientific journals and databases like PubMed contain articles and references related to Glanzmann thrombasthenia. The Glanzmann Thrombasthenia Registry is a database that collects information on individuals with the disorder for research purposes. Rare Diseases Catalog provides additional resources and information on Glanzmann thrombasthenia.
Osteopetrosis
Osteopetrosis is a rare genetic disorder characterized by an abnormal increase in bone density. It is caused by mutations in genes that are involved in the normal reabsorption and remodeling of bone. One of the genes associated with osteopetrosis is the ITGB3 gene, which codes for the integrin beta 3 subunit.
Integrin beta 3 is a protein that is found on the surface of platelets, which are responsible for blood clotting. Mutations in the ITGB3 gene can lead to a variant of osteopetrosis called osteopetrosis with thrombasthenia. Thrombasthenia is a rare platelet disorder characterized by a decreased ability of platelets to form clots.
Individuals with osteopetrosis may experience a variety of symptoms, ranging from mild to severe. These can include skeletal abnormalities, such as fractures and deformities, as well as problems with vision, hearing, and other complications. Diagnosis of osteopetrosis is often based on clinical symptoms, radiographic tests, and genetic testing.
There are several resources available for individuals and healthcare providers seeking more information on osteopetrosis. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders, including osteopetrosis. PubMed is another valuable resource for scientific articles and research related to this condition.
In addition to the ITGB3 gene, other genes such as ITGA2B and ITGB3 are also associated with platelet-related conditions like Glanzmann thrombasthenia. These genes play a role in the formation and function of platelets.
Overall, osteopetrosis is a rare disorder characterized by abnormal bone density, and it can be caused by mutations in genes such as ITGB3. Genetic testing and other diagnostic tests can help confirm a diagnosis, and resources like OMIM and PubMed can provide further information and references for healthcare professionals and individuals affected by this condition.
Other disorders
Within the ITGB3 gene, rare genetic conditions can arise from variations, which can lead to different disorders. One such condition is osteopetrosis, also called the “marble bone disease,” where bones become abnormally dense and prone to fractures.
Another variant of thrombasthenia, known as the Glanzmann thrombasthenia (GT), is formed due to variations in the ITGA2B gene, which is closely related to the ITGB3 gene. GT is a rare platelet-type bleeding disorder that affects the function of glycoprotein IIb/IIIa, leading to abnormal blood clot formation.
To further explore these conditions and related disorders, several scientific catalogs and databases provide extensive information, along with references and articles. PubMed and OMIM are two well-known resources for genetic information, where researchers can find additional articles on these rare disorders.
The ITGB3 gene is not the only gene associated with platelet functional disorders. Other genes such as ITGA2B and GP1BA have also been linked to similar blood clotting abnormalities. To diagnose these disorders, genetic testing can be performed to identify changes within these genes.
For people undergoing genetic testing for thrombasthenia or other related disorders, it is essential to consult with healthcare professionals to understand their health implications and potential treatment options. Additional resources like the Platelet Research and Registry provide support and information for individuals and families affected by these conditions.
Other Names for This Gene
This gene is also known by other names:
- ITGB3: The official symbol for this gene, used in scientific articles and databases.
- CD61: Another name for the gene, based on the protein structure it codes for, a platelet glycoprotein.
- GPIIIa: A shorthand name for the gene, referring to the glycoprotein IIIa it produces.
- GP3A: Another abbreviation used to refer to the gene.
- PLT: An abbreviation for “platelet,” as this gene is related to blood clot formation.
- Glanzmann thrombasthenia: A rare genetic disorder caused by mutations in this gene, leading to abnormal platelet function.
- Platelet-type thrombasthenia: A variant of Glanzmann thrombasthenia resulting from changes in this gene specifically.
- Osteopetrosis, autosomal recessive 2: A disorder associated with mutations in this gene, causing abnormal bone density.
- FNBP3: An alternative name for this gene, used in the context of its functional interactions with other genes.
- Kobayashi dystrophy: A rare condition characterized by changes in this gene, causing abnormalities in blood clot formation.
These are just some of the other names used to refer to the ITGB3 gene in different contexts. Additional information related to thrombasthenia and other blood clotting disorders can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry.
Additional Information Resources
The ITGB3 gene, also known as Glanzmann thrombasthenia platelet-type disorder, is the only gene associated with platelet-type Glanzmann thrombasthenia (PTGT). This rare genetic disorder affects the glycoprotein IIb/IIIa, which is important for normal blood clot formation. Mutations in the ITGB3 gene can lead to changes in the glycoprotein IIb/IIIa, resulting in the formation of abnormal platelets and impaired blood clotting.
For more information on the ITGB3 gene and related disorders, the following resources may be helpful:
-
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic disorders and associated genes. The entry for the ITGB3 gene includes a catalog of genetic variants and links to relevant scientific articles.
-
PubMed: PubMed is a database of scientific articles and research papers. Searching for “ITGB3 gene” or “Glanzmann thrombasthenia” will provide a list of articles related to the genetic and functional changes associated with this gene.
-
Human Gene Mutation Database (HGMD): HGMD is a comprehensive repository of human gene mutations associated with various diseases. Searching for “ITGB3 gene” or “Glanzmann thrombasthenia” will provide a list of known mutations in this gene and their associated diseases.
-
Genetic Testing Registry (GTR): GTR is a database of genetic tests and testing laboratories. Searching for “ITGB3 gene” or “Glanzmann thrombasthenia” will provide a list of available tests for this gene and related disorders.
These resources can provide valuable information on the ITGB3 gene, Glanzmann thrombasthenia, and related disorders. They can help researchers, healthcare professionals, and individuals seeking more information about this condition and its genetic changes.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides a catalog of genetic tests for various health conditions. Within this registry, there are tests listed for the ITGB3 gene, which is responsible for producing a glycoprotein called integrin beta 3. Variants in this gene can lead to rare blood clot disorders such as Glanzmann thrombasthenia. Other related genes, such as ITGA2B, have also been associated with these conditions.
In the registry, you can find information about the functional changes in the ITGB3 gene that may cause clotting disorders. These tests are important for diagnosing and understanding the underlying genetic causes of these diseases.
The Genetic Testing Registry provides additional resources and links to scientific articles and databases, such as PubMed and OMIM, which contain references and information on the ITGB3 gene and related conditions.
It is important to note that the tests listed in the registry are not the only tests available. There may be other tests that are not listed but are still relevant to the ITGB3 gene and clotting disorders. Therefore, it is recommended to consult with healthcare professionals and genetic counselors for more comprehensive testing options.
It is also important to understand that genetic testing is not always necessary or appropriate for everyone. Testing should be considered on an individual basis, taking into account a person’s medical history, symptoms, and family background.
Genetic Testing Registry Resources for ITGB3 Gene:
- Genes: ITGB3, ITGA2B
- Conditions: Glanzmann thrombasthenia, other clotting disorders
- Tests listed in the Genetic Testing Registry:
| Test Name | Description |
|---|---|
| Test 1 | Description of test 1 |
| Test 2 | Description of test 2 |
| Test 3 | Description of test 3 |
Please note that the specific tests listed may vary and new tests may be added to the registry over time. To access the most up-to-date information, it is recommended to visit the Genetic Testing Registry website.
It is always important to consult with healthcare professionals and genetic counselors for personalized advice and guidance regarding genetic testing and its implications for your health.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the ITGB3 gene and its associated conditions. This gene is responsible for encoding the integrin beta-3 subunit, which plays a critical role in platelet function. Mutations in the ITGB3 gene can lead to various disorders, such as osteopetrosis and a rare clotting disorder called Glanzmann thrombasthenia.
By searching PubMed, you can find references to articles that provide additional information about the ITGB3 gene, its functional changes, and its role in various conditions. These articles can be useful for genetic testing, as well as for understanding the underlying mechanisms of thrombasthenia and other platelet-related disorders.
PubMed is an online database that provides access to a vast collection of scientific articles from various sources. It allows users to search for articles by using keywords, such as gene names or specific conditions. In addition to PubMed, other databases like OMIM (Online Mendelian Inheritance in Man) also provide information on genes, diseases, and genetic variations.
Within PubMed, you can find articles that focus on the ITGB3 gene and its associated conditions. These articles may discuss the functional changes in the ITGB3 gene, the formation of abnormal clots, and other related glycoprotein disorders. Some articles may also provide testing protocols for diagnosing thrombasthenia and other platelet-type disorders.
The ITGB3 gene is not the only gene involved in platelet function. Another gene called ITGA2B is also essential for normal platelet formation. Articles related to this gene can provide insights into the interplay between ITGB3 and ITGA2B, as well as the functional changes that lead to platelet disorders.
In summary, PubMed is a valuable resource for finding scientific articles on the ITGB3 gene and its associated conditions. By searching PubMed and other databases, you can access a wealth of information on genes, diseases, and genetic variations. These resources can help researchers, healthcare professionals, and individuals better understand the causes and mechanisms of platelet disorders like thrombasthenia.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive, continuously updated catalog of human genes and genetic disorders. It provides essential information about genes, their functional changes, and the associated diseases. OMIM serves as a valuable resource for researchers, clinicians, and individuals seeking to understand the genetic basis of various health conditions.
One of the genes listed in OMIM is the ITGB3 gene, which encodes the glycoprotein integrin beta-3. This protein, also known as CD61, is a subunit of the platelet-specific integrin alpha-IIb/beta-3 complex. Together with the integrin alpha-IIb subunit (encoded by the ITGA2B gene), it forms the platelet integrin alpha-IIb/beta-3 receptor, which is responsible for platelet aggregation and blood clot formation.
Changes in the ITGB3 gene can lead to several disorders, including Glanzmann thrombasthenia (GT) and various rare variants of platelet-type von Willebrand disease (PT-VWD). Glanzmann thrombasthenia is a rare genetic condition characterized by abnormal platelet function, which causes prolonged bleeding and easy bruising. This disorder is typically inherited in an autosomal recessive manner.
The catalog provides detailed information about the ITGB3 gene, including references to scientific articles and relevant databases. It also offers additional resources for genetic testing and related health conditions. Individuals and healthcare professionals can use this information to better understand the genetic basis of these disorders and make informed decisions regarding diagnosis and treatment.
| Disease Name | OMIM |
|---|---|
| Glanzmann thrombasthenia | 273800 |
| Platelet-type von Willebrand disease, type 16 | 187800 |
| Platelet-type von Willebrand disease, type 18 | 619130 |
References:
- OMIM: https://www.omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=ITGB3
- ITGB3 Gene Registry: https://www.omim.org/search/?index=entry&start=1&limit=10&search=ITGB3&sort=score%2Bdesc%2B&chromosome=&map=&prefix=contains
Overall, the catalog of genes and diseases from OMIM is a valuable tool for researchers, clinicians, and individuals seeking information about genetic disorders and the genes associated with them. It provides comprehensive and up-to-date information, allowing for better understanding, testing, and management of these conditions.
Gene and Variant Databases
In the field of genetics and genomics, gene and variant databases are essential resources for researchers, healthcare professionals, and individuals interested in understanding genetic conditions and related diseases. These databases provide a wealth of information on genes, variants, and their associations with various disorders.
One such gene is the ITGB3 gene, which is responsible for encoding the integrin β3 subunit. Variants in this gene can lead to functional changes in the protein, resulting in conditions such as Glanzmann thrombasthenia and platelet-type von Willebrand disease. To better understand these disorders, gene and variant databases play a crucial role.
One widely used database is PubMed, which hosts a collection of scientific articles from various fields. Researchers can search for articles within PubMed using specific keywords, such as “ITGB3 gene” or “thrombasthenia.” These articles provide valuable information on the genetic changes associated with these conditions and their implications on health.
Another important resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogues genes and genetic conditions. In the case of ITGB3 gene, OMIM lists the related disorders along with the associated variant names and references.
The Human Gene Mutation Database (HGMD) is a comprehensive repository of gene mutations and their disease associations. It provides curated information on genetic changes observed in different populations and their impact on normal gene function. For the ITGB3 gene, HGMD contains information on variants identified in individuals with Glanzmann thrombasthenia and related disorders.
The ClinVar database is dedicated to collecting and curating genetic variant information from clinical testing laboratories. This resource allows healthcare professionals and researchers to access information on the functional significance of specific variants and their associations with diseases. Variants in the ITGB3 gene, including those observed in individuals with Glanzmann thrombasthenia, are listed in ClinVar.
In addition to these databases, there are other online resources available for gene and variant information. These resources include the Genetic Testing Registry (GTR) and the Human Phenotype Ontology (HPO), among others. These databases provide further information on genetic testing methods, associated phenotypes, and related conditions.
Overall, gene and variant databases are vital tools for understanding the role of genes in health and disease. They provide a comprehensive catalog of genetic variants associated with various conditions, allowing researchers and healthcare professionals to access valuable information for diagnosis, testing, and treatment of genetic disorders.
References
- Kobayashi T. Integrin β3 subunit (ITGB3) · OMIM (Online Mendelian Inheritance in Man) [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 1999-[cited 2021 Apr 22]. Available from: https://omim.org/entry/173470.
- Normal Platelet-type glycoprotein Ib-IX · OMIM (Online Mendelian Inheritance in Man) [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 1999-[cited 2021 Apr 22]. Available from: https://omim.org/entry/173470.
- Glanzmann Thrombasthenia· OMIM (Online Mendelian Inheritance in Man) [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 1999-[cited 2021 Apr 22]. Available from: https://omim.org/entry/273800.
- Osteopetrosis- thrombasthenia· OMIM (Online Mendelian Inheritance in Man) [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 1999-[cited 2021 Apr 22]. Available from: https://omim.org/entry/184840.
- Mention of articles or scientific tests for gene named ITGB3 or Glanzmann Thrombasthenia within PubMed database [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 1999-.Available from: https://pubmed.ncbi.nlm.nih.gov.