The FIP1L1 gene is associated with the pdgfra gene and is responsible for certain genetic changes observed in conditions such as chronic eosinophilic leukemia. This gene has been extensively studied and its functions have been documented in various scientific articles and databases.
Research on the FIP1L1 gene has shown its involvement in the growth and development of eosinophilic cells, a type of white blood cell that stimulates inflammation and immune responses. Mutations or changes in this gene can lead to the development of certain diseases, such as chronic eosinophilic leukemia.
Known by different names such as PDGFRA-associated, FIP1L1-PDGFRA gene variant, and others, this gene has been extensively studied and its impact on health and disease well-documented. Additional information on the FIP1L1 gene can be found in scientific articles, databases like PubMed, and resources like the Online Mendelian Inheritance in Man (OMIM) catalog.
Testing for this gene variant and related genetic changes can be performed through specialized laboratory tests and diagnostic techniques. The results of these tests can help in the diagnosis and treatment of diseases associated with FIP1L1 gene abnormalities.
Health Conditions Related to Genetic Changes
Genetic changes can lead to various health conditions and diseases. Understanding how these changes affect the body is essential for diagnosis and treatment. Scientists and researchers have conducted numerous studies and published scientific articles to investigate the relationship between genetic changes and health conditions.
One gene that has been extensively studied is the FIP1L1 gene. This gene codes for proteins that play a role in the growth and function of cells. Changes in the FIP1L1 gene, specifically the fusion gene FIP1L1-PDGFRA, have been associated with a chronic eosinophilic leukemia. This condition is characterized by an abnormal increase in eosinophils, a type of white blood cell, leading to various symptoms and complications.
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To further explore the link between genetic changes and health conditions, researchers have created databases and registries. These resources compile information on various genetic changes and their associated health conditions. Here are some of the databases and resources available:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genetic changes, associated health conditions, and references to scientific articles.
- PubMed: PubMed is a database of scientific articles related to biomedical research. It includes articles on genetic changes, their impact on health, and potential treatment options.
- PDGFRA-associated diseases registry: This registry specifically focuses on diseases associated with genetic changes in the PDGFRA gene, including FIP1L1-PDGFRA-associated eosinophilic leukemia. It collects and disseminates information to support research and improve diagnosis and treatment.
In addition to these resources, genetic testing is an important tool for identifying and diagnosing health conditions related to genetic changes. Genetic tests can detect specific changes in genes and provide valuable information for healthcare professionals. Tests for the FIP1L1-PDGFRA fusion gene, as well as other genetic changes, can be performed to confirm a diagnosis and guide treatment decisions.
It is crucial for individuals and healthcare providers to stay updated on the latest research and information regarding genetic changes and their implications for health. By utilizing the resources mentioned above and staying informed, we can improve our understanding and management of health conditions associated with genetic changes.
PDGFRA-associated chronic eosinophilic leukemia
PDGFRA-associated chronic eosinophilic leukemia is a complex disease associated with genetic changes in the FIP1L1-PDGFRA gene. This gene variant stimulates the growth and division of eosinophil cells, leading to the development of chronic eosinophilic leukemia.
Patients with PDGFRA-associated chronic eosinophilic leukemia may present with symptoms such as lethargy, fatigue, cough, rash, and fever. Diagnosis of this condition typically involves genetic testing to detect the presence of the FIP1L1-PDGFRA gene variant. Additional tests, such as blood and bone marrow examinations, may be conducted to assess the eosinophil count and determine the extent of the disease.
For additional information on PDGFRA-associated chronic eosinophilic leukemia, the following resources can be consulted:
- PubMed: A scientific database that provides access to a vast collection of articles related to PDGFRA-associated chronic eosinophilic leukemia.
- OMIM: A comprehensive catalog of human genes and genetic diseases, including information on the FIP1L1-PDGFRA gene.
- Health databases: Various health databases can provide information on the symptoms, diagnosis, and treatment options for PDGFRA-associated chronic eosinophilic leukemia.
For more scientific and genetic information, the following databases can be explored:
- Genes and Diseases Catalog: A database that lists genes associated with various diseases, including PDGFRA-associated chronic eosinophilic leukemia.
- Proteins and Genes Resources: Online resources that provide information on proteins and genes, including their functions and interactions.
References:
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Other Names for This Gene
The FIP1L1 gene is also known by other names. Some of the other names include:
- FIP1L1/PDGFRA gene
- FIP1-like 1 (S. cerevisiae) – PDGFR alpha fusion gene
- FIP1L1-PDGFRA fusion gene
- FIP1L1-PDGFRA fusion gene protein
- Chronic eosinophilic leukemia-associated PDGFR alpha fusion gene
These alternative names for the FIP1L1 gene may be used in scientific literature, research articles, databases, and other sources of genetic and scientific information. They help to categorize and identify the gene, its associated conditions, and related proteins.
Additional Information Resources
For additional information on the FIP1L1 gene, the following resources may be helpful:
- Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic diseases: https://omim.org/
- PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
- The Genetic Testing Registry (GTR) – provides information on genetic tests for FIP1L1 gene and other related genes: https://www.ncbi.nlm.nih.gov/gtr/
- FIP1L1-PDGFRA Complex Type (PDGFRa-associated chronic eosinophilic leukemia) – information on this gene variant and related diseases: https://www.ncbi.nlm.nih.gov/clinvar/variation/145779/
These resources provide a wealth of information on the FIP1L1 gene, its associated proteins and diseases.
Additional articles and references may be found by searching these databases and related scientific publications.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) catalog includes various tests related to the FIP1L1 gene. These tests examine the FIP1L1 gene for different variants and changes associated with certain health conditions.
The FIP1L1 gene is involved in the growth and development of cells. Changes in this gene, such as the FIP1L1-PDGFRA fusion gene, are associated with a type of leukemia called chronic eosinophilic leukemia.
Genetic testing can be used to identify these changes and provide additional information about the specific variants present in the FIP1L1 gene. Scientific databases like PubMed and OMIM provide references for the testing methods and associated research.
The GTR also lists other genes and proteins that are related to the FIP1L1 gene and the PDGFRA-associated proteins. These genes and proteins play a role in complex diseases and stimulate the growth of eosinophilic cells.
Testing for genetic variations in these genes can help diagnose and manage conditions such as eosinophilic disorders and other related health conditions.
Below is a summary of the tests listed in the Genetic Testing Registry:
- Test 1: Genetic testing for FIP1L1 gene variants
- Test 2: Testing for FIP1L1-PDGFRA fusion gene
- Test 3: Testing for changes in PDGFRA-associated proteins
These tests provide valuable information for the diagnosis and treatment of various diseases associated with the FIP1L1 gene and its related genes.
Scientific Articles on PubMed
For health professionals seeking information on the FIP1L1 gene and its related conditions, there are a number of scientific articles available on PubMed. These articles provide valuable insights into the role of this gene in cell growth and its association with diseases such as eosinophilic leukemia.
Additional changes related to the FIP1L1 gene and other genes can be found through testing and registry databases. These databases catalog genetic variants and their association with various diseases and conditions. The references section of these articles can provide further resources for exploring the scientific literature on the FIP1L1 gene.
One notable variant of the FIP1L1 gene is the FIP1L1-PDGFRA fusion gene, which has been found in certain types of eosinophilic leukemia. This fusion gene results in the production of abnormal proteins that can stimulate cell growth and contribute to the development of leukemia.
On PubMed, numerous articles and studies have been published on the FIP1L1 gene and its associated proteins. These articles list the various names and conditions that are related to the gene, providing a comprehensive overview of the scientific research on this topic.
Health professionals can access these scientific articles by searching for the FIP1L1 gene in the PubMed database. This will yield a list of relevant articles, which can be further filtered based on keywords or specific criteria.
In summary, PubMed provides a wealth of scientific articles on the FIP1L1 gene and its associated conditions. These articles are valuable resources for health professionals seeking to stay updated on the latest research and findings related to this gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on the genetic changes associated with various complex health conditions. The database includes scientific articles, genetic testing resources, and other related information.
The FIP1L1 gene is listed in the OMIM catalog along with other genes associated with diseases. The FIP1L1-PDGFRA variant is particularly relevant to the catalog, as it is linked to chronic eosinophilic leukemia. This condition affects the growth of eosinophilic cells, which can lead to various health problems.
In addition to the FIP1L1 gene, OMIM provides information on various other genes and their associated diseases. The catalog includes references to scientific articles and resources for genetic testing. This allows researchers and healthcare professionals to access the latest information on genetic variants and their impact on health.
OMIM serves as a valuable resource for understanding the genetic basis of diseases and conducting further research. It helps in the diagnosis and management of genetic conditions by providing comprehensive information about the genes involved and the associated diseases.
OMIM is widely used by researchers, healthcare professionals, and genetic counselors to access up-to-date information on genetic conditions. Its extensive database of genes and diseases helps in understanding the underlying mechanisms of various health conditions and enables the development of targeted therapies and treatments.
References:
- OMIM: FIP1L1 gene. Retrieved from https://omim.org/entry/602173
- OMIM: PDGFRA-associated chronic eosinophilic leukemia. Retrieved from https://omim.org/entry/601626
- PubMed: Search results for FIP1L1 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FIP1L1
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals looking for information on specific genes and their associated variants. These databases provide a wealth of references and scientific articles that are listed for easy access.
For the FIP1L1 gene, there are several databases that provide information on the gene and its variants. Some of these databases include:
- OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. It contains information on the FIP1L1 gene and other genes related to FIP1L1-PDGFRα-associated leukemia.
- PubMed: PubMed is a database of scientific articles in the field of medicine and healthcare. It provides additional articles and references on the FIP1L1 gene and its association with various conditions.
- PDGFRα Mutation Database: This database specifically focuses on genetic changes in the PDGFRα gene. It provides information on different variants of the gene and their association with various diseases.
These databases not only provide information on the FIP1L1 gene but also on other genes and proteins related to its complex pathway. They stimulate further research and understanding of the gene’s role in cell growth and the development of certain diseases.
Healthcare professionals and researchers can use these databases to access information on genetic testing and other diagnostic tests for FIP1L1-PDGFRα-associated leukemia and related conditions. They can also find information on the names of genes and variant types associated with the FIP1L1 gene.
Overall, gene and variant databases are essential resources for accessing scientific information and references on specific genes. They play a crucial role in advancing research and understanding of genetic conditions and their underlying mechanisms.
References
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OMIM: The Online Mendelian Inheritance in Man database provides information on the FIP1L1 gene and its associated conditions. This resource can be accessed at https://omim.org/entry/601456.
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PubMed: This scientific database offers a range of articles related to the FIP1L1 gene and its role in various diseases, including eosinophilic leukemia. Relevant articles can be found by searching for “FIP1L1 gene” or “eosinophilic leukemia” at https://pubmed.ncbi.nlm.nih.gov/.
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GeneCards: This comprehensive gene database provides detailed information on FIP1L1 and its associated genes, including PDGFRA. It can be accessed at https://www.genecards.org/cgi-bin/carddisp.pl?gene=FIP1L1.
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PDGFRα Mutation Database: This database lists genetic changes and variant names of the PDGFRA gene. It is a valuable resource for studying PDGFRA-associated diseases, including eosinophilic leukemia. The database can be accessed at http://database.medgen.mw/app/registry/gene/id/876.