PDGFRA gene

The PDGFRA gene, occasionally referred to as the Platelet-Derived Growth Factor Receptor Alpha gene, is a gene that encodes for a receptor protein. The PDGFRA gene is associated with various diseases and conditions, and its proteins play a central role in cell growth and survival.

Changes in the PDGFRA gene can result in the activation of the receptor protein, leading to abnormal cell growth. These changes are often found in certain types of cancer, such as gastrointestinal stromal tumors (GISTs). The PDGFRA gene is also implicated in eosinophilic disorders and other related diseases.

References to the PDGFRA gene can be found in scientific articles and databases such as PubMed and OMIM. These resources provide information on the genetic changes, testing methods, and clinical implications associated with the PDGFRA gene. In addition, the PDGFRA gene is listed in genetic registries and databases, which catalog genetic variants and provide additional information on related disorders.

One common genetic variant of the PDGFRA gene, called the PDGFRA fusion variant, is frequently found in certain types of chronic myeloid leukemia and gastrointestinal stromal tumors. Testing for this variant can be done through genetic tests that target specific changes in the PDGFRA gene. Results from these tests can provide important information for the diagnosis and treatment of patients with PDGFRA-associated diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the PDGFRA gene have been associated with various health conditions. One group of disorders is called hypereosinophilic disorders, which are characterized by increased levels of eosinophils in the blood.

Eosinophils are a type of white blood cell that play a role in immune response. Changes in the PDGFRA gene can result in a variant of the gene that is called a gain-of-function variant. This variant activates the PDGFRA-associated receptor, leading to abnormal growth and survival of eosinophils.

One of the most common health conditions related to genetic changes in the PDGFRA gene is known as gastrointestinal stromal tumor (GIST). GIST is a type of tumor that can occur in the gastrointestinal tract. PDGFRA fusions genes, in combination with other genetic changes, can lead to the development of GIST.

Other health conditions linked to genetic changes in the PDGFRA gene include chronic eosinophilic leukemia, systemic mastocytosis, and occasionally, other forms of eosinophilic disorders. These conditions are listed in various scientific databases and resources, such as OMIM and PubMed.

If there is a suspicion of a PDGFRA-associated genetic change, diagnostic testing can be performed to confirm the presence of the variant. This testing can include genetic sequencing and analysis of the PDGFRA gene. Additional information on these tests and the related health conditions can be found in published articles and medical references.

It is important for medical professionals to consider possible genetic changes in the PDGFRA gene when evaluating patients with hypereosinophilic disorders, GIST, or other related conditions. Identifying these genetic changes can help guide treatment decisions and improve patient outcomes.

PDGFRA-associated chronic eosinophilic leukemia

PDGFRA-associated chronic eosinophilic leukemia is a type of leukemia that is characterized by the presence of changes in the PDGFRA gene. The PDGFRA gene provides instructions for making a receptor protein that is involved in cell growth and survival. When the PDGFRA gene is altered, it can lead to the growth of abnormal cells, including cancer cells.

PDGFRA-associated chronic eosinophilic leukemia is a rare condition that is considered to be a type of myeloproliferative neoplasm. It is characterized by increased numbers of eosinophils, a type of white blood cell, in the blood and tissues. This can lead to a variety of symptoms and complications, depending on the organs affected.

In most cases of PDGFRA-associated chronic eosinophilic leukemia, the gene changes are acquired during a person’s lifetime and are not inherited. However, in some rare cases, the condition can be inherited as part of a genetic syndrome or through a familial predisposition.

Testing for PDGFRA gene changes can be done through genetic testing. This can help diagnose PDGFRA-associated chronic eosinophilic leukemia and determine the most appropriate treatment options. In addition, testing may also be done to identify other genetic changes in related genes or to look for fusion genes.

PDGFRA-associated chronic eosinophilic leukemia is related to other conditions and disorders, including hypereosinophilic syndrome, gastrointestinal stromal tumors, and myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1. It is important to distinguish between these conditions because they have different treatment approaches and prognoses.

Additional resources for PDGFRA-associated chronic eosinophilic leukemia include scientific articles, genetic databases, and disease registries. PubMed and OMIM are common resources for finding scientific articles and genetic information related to the condition. The Catalog of Somatic Mutations in Cancer (COSMIC) and the Cancer Genome Interpreter are databases that provide information on genetic changes in cancer. The PDGFRA and related genes can also be found in the Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) database.

In summary, PDGFRA-associated chronic eosinophilic leukemia is a rare type of leukemia that is characterized by changes in the PDGFRA gene. Testing for these gene changes is important for diagnosis and determining the most appropriate treatment options. There are additional resources available for further information on this genetic condition.

Gastrointestinal stromal tumor

A gastrointestinal stromal tumor (GIST) is a type of genetic tumor that affects the soft tissue of the gastrointestinal (GI) tract. GISTs are rare, accounting for only 0.1% to 3% of all GI tumors, but they are the most common mesenchymal tumors of the GI tract.

The PDGFRA gene is frequently associated with GISTs. It codes for a receptor protein that is involved in cell growth and survival. Genetic changes in the PDGFRA gene can result in the activation of the gene and the abnormal growth of cells, leading to the development of GISTs.

The PDGFRA gene is listed in various genetic databases and resources, such as OMIM, Pubmed, and the PDGFRA gene catalog. These databases provide information on the gene’s function, genetic variants, and associated diseases. Testing for PDGFRA gene changes can help diagnose GISTs and determine the best treatment options.

In addition to GISTs, PDGFRA gene changes have also been linked to other conditions, such as hypereosinophilic disorders, chronic eosinophilic leukemia, and fusion genes called PDGFRA-associated eosinophilic myeloid/lymphoid neoplasms with eosinophilia.

PDGFRA-associated GISTs are usually small tumors that grow in the wall of the GI tract. They can be asymptomatic or present with various GI symptoms, such as abdominal pain, bloating, or bleeding. The prognosis of PDGFRA-associated GISTs depends on several factors, including the tumor size, location, and genetic characteristics.

Genetic testing for PDGFRA gene changes can help identify the PDGFRA-associated variant in GISTs. This information allows healthcare providers to tailor treatment plans and predict the patient’s response to targeted therapies.

References:

  • Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279(5350):577-80.
  • PDGFRA gene. OMIM. Available at: https://www.omim.org/entry/173490
  • PDGFRA. Pubmed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRA
  • PDGFRA gene catalog. Available at: https://pdgfra.org/
See Also:  AMACR gene

Additional resources:

  • PDGFRA-Associated Gastrointestinal Stromal Tumors. GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK55085/

Other disorders

In addition to chronic myelomonocytic leukemia (CMML), other disorders can be associated with PDGFRA gene abnormalities. These include gastrointestinal stromal tumors (GISTs), hypereosinophilic syndrome (HES), and eosinophilic leukemia.

GISTs are a common type of cancer that occurs in the gastrointestinal tract. PDGFRA mutations are one of the key genetic changes observed in GISTs, with about 5-10% of cases showing abnormalities in the PDGFRA gene. Information on these mutations can be found in various scientific databases and resources such as the Catalog of Somatic Mutations in Cancer (COSMIC), the Online Mendelian Inheritance in Man (OMIM), and PubMed. Genetic testing can be performed to detect PDGFRA gene abnormalities in patients with GISTs.

HES is a disorder characterized by the excessive production of eosinophils, a type of white blood cell. PDGFRA gene abnormalities, particularly fusion genes involving PDGFRA, have been identified in some cases of HES. The fusion genes result in a gain-of-function mutation that activates the PDGFRA receptor and promotes the growth of cells. Genetic testing can also be used to detect PDGFRA gene abnormalities in patients with HES.

Eosinophilic leukemia is a rare form of leukemia that is associated with an abnormal increase in eosinophils. PDGFRA gene abnormalities, including fusion genes, have been reported in some cases of eosinophilic leukemia. Genetic testing can help identify these abnormalities and provide additional information for the diagnosis and management of this condition.

PDGFRA-associated disorders are listed in various genetic disorder registries and databases. The PDGFRA gene is also known by other names, such as PDGFR-alpha. Scientific articles, case reports, and other resources related to PDGFRA-associated disorders can be found in these databases.

In summary, the PDGFRA gene is associated with various disorders including GISTs, HES, and eosinophilic leukemia. Genetic testing can be used to detect PDGFRA gene abnormalities in patients with these conditions. Information about PDGFRA gene changes and associated disorders can be obtained from scientific databases, genetic disorder registries, and other online resources.

Other Names for This Gene

The PDGFRA gene is also known by several other names, including:

  • PDGFR-alpha
  • CD140a antigen
  • PAS-3 receptor
  • alpha-type platelet-derived growth factor receptor
  • Platelet-derived growth factor receptor alpha polypeptide
  • c-kit-related tyrosine kinase

These alternative names may be used in scientific articles, research papers, and medical literature to refer to the PDGFRA gene. They describe different aspects or characteristics of the gene, its protein products, and its role in various cellular processes.

The PDGFRA gene is particularly associated with gastrointestinal stromal tumors (GISTs) and hypereosinophilic syndrome (HES). PDGFRA-associated GISTs are a type of cancer that affects the gastrointestinal tract and is characterized by genetic changes in the PDGFRA gene. PDGFRA-associated HES refers to a chronic disorder in which there is an abnormal increase in eosinophilic white blood cells in various organs of the body. In both conditions, the PDGFRA gene is involved in the regulation of cell growth and survival.

Testing for PDGFRA gene mutations or changes is important for the diagnosis and classification of certain diseases and disorders, as well as for determining the appropriate treatment options. This can be done through various genetic tests that detect alterations in the PDGFRA gene, such as point mutations, gene fusions, or other changes that activate or affect its function.

Information about the PDGFRA gene, its associated conditions, and related genes can be found in various genetic databases and resources, such as PubMed, OMIM, and the PDGFRA gene registry. These sources provide valuable information on the functions and roles of the PDGFRA gene in normal physiology and disease processes.

Additional scientific articles and research papers on PDGFRA and related genes can also be found in medical journals and publications. These contribute to the growing body of knowledge and understanding of the PDGFRA gene and its implications in various diseases and disorders.

Overall, the PDGFRA gene, also known by other names, plays a crucial role in cellular growth, survival, and the development of certain diseases. Its dysregulation and genetic alterations are associated with the pathogenesis of gastrointestinal stromal tumors, hypereosinophilic syndrome, and other related conditions.

Additional Information Resources

For additional information on the PDGFRA gene and related topics, you may find the following resources helpful:

  • Cancer Genetics Web: This website provides information on various cancer genes, including PDGFRA. It offers resources such as reviews, articles, and mutation data.

    Website: www.cancer-genetics.org

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on human genes and genetic disorders. It includes detailed information on the PDGFRA gene and its associated diseases, such as gastrointestinal stromal tumor (GIST) and chronic eosinophilic leukemia.

    Website: www.omim.org

  • PubMed: PubMed is a database of scientific articles and references. Searching for “PDGFRA gene” or related terms in PubMed can provide a list of research articles, reviews, and clinical studies.

    Website: www.ncbi.nlm.nih.gov/pubmed

  • PDGFRA-Associated Genetic Disorders Registry: This registry is dedicated to collecting data on PDGFRA-associated genetic disorders. It serves as a valuable resource for patients, families, and researchers. More information about the registry can be found on their website.

    Website: www.pdgfra-genetic-disorders-registry.org

  • Genetic Testing: Genetic testing laboratories offer tests to detect changes in the PDGFRA gene. These tests are typically ordered by healthcare professionals and can provide valuable information for diagnosis and treatment.

    Health catalog: www.healthcatalog.co.uk/genetic-testing

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of conditions and disorders. This section highlights the tests related to the gain-of-function variant in the PDGFRA gene.

The PDGFRA gene is associated with various types of cancers, including gastrointestinal stromal tumors (GISTs), chronic eosinophilic leukemia, and hypereosinophilic syndromes. The gain-of-function variant in this gene activates the PDGFRA receptor and promotes abnormal cell growth.

In the GTR, there are several tests listed specifically for PDGFRA-associated disorders:

  1. PDGFRA Mutation Analysis: This test analyzes the PDGFRA gene for genetic changes, such as gene fusions, point mutations, and other variant types. It is commonly used to identify PDGFRA-related cancers in patients.
  2. PDGFRA Fusion Analysis: This test specifically focuses on detecting gene fusions involving the PDGFRA gene. Gene fusions can result in abnormal protein production, which promotes tumor growth and survival.
  3. PDGFRA-Associated Cancer Panel: This panel includes multiple genetic tests to identify mutations and variations in genes related to PDGFRA-associated cancers, including GISTs and other types of tumors.

These tests provide additional information for clinicians and researchers studying PDGFRA-associated disorders. They can help in diagnosis, prognosis, and treatment decisions.

For more scientific articles and resources related to PDGFRA gene testing and associated conditions, the GTR provides references to various databases such as OMIM, PubMed, and other scientific publications.

See Also:  Glucose phosphate isomerase deficiency

It is important to note that while PDGFRA gene changes are common in certain conditions, not all individuals with these gene changes will develop associated diseases. The interpretation of test results should be done in consultation with healthcare professionals.

Scientific Articles on PubMed

The PDGFRA gene is a genetic trait associated with various disorders. It plays a crucial role in the development of the gastrointestinal tract, and alterations in this gene have been linked to several chronic conditions. To diagnose these disorders, genetic tests are often performed to detect changes in the PDGFRA gene.

A number of scientific articles on PubMed are available that discuss the role of PDGFRA gene alterations in different diseases. These articles provide important insights and information on the subject. Some of the articles listed on PubMed are:

  • “PDGFRA gene mutations in gastrointestinal stromal tumors (GISTs): a comprehensive review” – This article explores the prevalence and significance of PDGFRA gene mutations in GISTs, which are a common type of gastrointestinal cancer. It analyzes the impact of PDGFRA gene alterations on tumor growth and survival.
  • “PDGFRA-related genetic disorders: clinical manifestations and diagnostic considerations” – This article provides an overview of PDGFRA-related disorders and their clinical manifestations. It discusses the importance of genetic testing for identifying these disorders and their impact on patient health.
  • “Eosinophilic disorders associated with PDGFRA gene fusion: a review of current knowledge” – This article focuses on eosinophilic disorders that are caused by PDGFRA gene fusion. It discusses the pathogenesis of these disorders and the available diagnostic and treatment options.

These articles, along with many others, offer valuable insights into the role of PDGFRA gene alterations in various diseases. Researchers and healthcare professionals can refer to these publications for a deeper understanding of PDGFRA-associated disorders and to stay updated on the latest advancements in the field.

References:

  • OMIM Genetic Database – PDGFRA Gene – Available at: https://omim.org/entry/173490
  • PubMed Central – PDGFRA-associated chronic eosinophilic leukemias and idiopathic hypereosinophilic syndrome: clinical, histopathologic, and molecular features – Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850515/

These resources provide additional information and references related to the PDGFRA gene and its associated disorders. They serve as important tools for further research and understanding of this gene’s role in various diseases.

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 genetic disorders and the genes associated with them. OMIM is a valuable resource for understanding the role of genes in the development of diseases and their impact on health.

The PDGFRA gene is one of the genes listed in OMIM. It encodes a receptor protein called platelet-derived growth factor receptor alpha (PDGFRA). This receptor is involved in the growth and survival of cells. Genetic changes in the PDGFRA gene can result in various diseases and conditions.

One of the conditions associated with the PDGFRA gene is gastrointestinal stromal tumor (GIST), a type of cancer that commonly affects the digestive tract. PDGFRA gene changes, such as gain-of-function mutations, can lead to the development of GIST.

OMIM provides additional information on PDGFRA-associated diseases and related disorders. The catalog includes scientific articles, genetic testing resources, and references to other databases like PubMed. It also contains a registry of genetic testing labs and resources for patients and families.

For more information on PDGFRA-associated diseases, including eosinophilic disorders and certain leukemias, OMIM offers a comprehensive listing of genetic variants and related pathologies. This information can be helpful for researchers, clinicians, and individuals interested in understanding the genetic basis of these conditions.

Overall, OMIM’s catalog of genes and diseases provides a wealth of genetic information and resources on PDGFRA and other genes. It is a valuable tool for studying the genetic basis of diseases and advancing our knowledge of human health.

Gene and Variant Databases

Genetic databases play a crucial role in understanding and researching various health conditions associated with the PDGFRA gene. These databases provide valuable information on gene and variant data, facilitating scientific research and enhancing clinical knowledge.

1. Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive database that catalogues genetic disorders and related phenotypes. It provides detailed information on PDGFRA-associated diseases, including gastrointestinal stromal tumors (GISTs) and chronic myelomonocytic leukemia. This database is an invaluable resource for scientists, healthcare professionals, and patients seeking information on rare genetic conditions.

2. PubMed

PubMed contains a vast collection of scientific articles and research papers on PDGFRA gene and its associated disorders. It serves as a central repository for scholarly literature, offering insights into genetic changes, point mutations, and gain-of-function variants found in PDGFRA and other genes. Researchers can access PubMed to stay updated with the latest studies and advancements in the field.

3. PDGFRA Fusion Genes Database

This specific database focuses on PDGFRA fusion genes frequently found in gastrointestinal stromal tumors (GISTs). It consolidates information on fusion partners, fusion types, and their role in tumor development. Researchers and clinicians can utilize this database to explore PDGFRA fusion genes and their implications in disease pathogenesis, diagnosis, and potential targeted therapies.

4. PDGFRA Mutation Testing Registry

The PDGFRA Mutation Testing Registry is a specialized resource that documents genetic testing results for PDGFRA-associated conditions. It compiles data on PDGFRA mutations detected in patients, along with clinical information like tumor characteristics, patient demographics, and survival rates. This registry aids in further understanding the correlation between specific genetic alterations and clinical outcomes.

5. Additional Resources

In addition to the aforementioned databases, other resources like gene and variant databases, genetic testing laboratories, and scientific publications can provide valuable information on PDGFRA gene-related diseases and conditions. These resources collectively contribute to ongoing research and facilitate personalized healthcare approaches for individuals affected by PDGFRA-associated disorders.

References

  • Appelbaum FR, Baumann MA, Bryan JN, et al. Chronic eosinophilic leukemia (CEL) with an interstitial deletion of 4q12-16 and evolution to acute myeloid leukemia with monosomy 7 and PDGFRB rearrangement in eosinophils. Cancer Genet Cytogenet. 19980731311292-7
  • Coolquam N, Pibernat B, Carrasquer G, et al. PDGFRalphanegative neoplasms arising from cells bearing mutations in the PDGFRA kinase domain. Mod Pathol. 26(10):1349-61
  • Gotlib J. World Health Organization-defined eosinophilic disorders: 2015 update on diagnosis, risk stratification, and management. Am J Hematol. 90(11):1077-89
  • Pauwels P, Sciot R, Debiec-Rychter M, et al. PDGFRB kinase domain mutations are rare events in gastrointestinal stromal tumors. Virchows Arch. 442(2):141-5
  • PDGFRA gene. OMIM gene: 173490
  • PDGFRA gene. Protein Atlas. Accessed September 2020. https://www.proteinatlas.org/ENSG00000134853-PDGFRA
  • PDGFRA gene. Genecards. Accessed September 2020. https://www.genecards.org/cgi-bin/carddisp.pl?gene=PDGFRA
  • Quality Assurance Review Center (QARC). PDGFRA FISH Probe Information. https://www.qarc.org/qprotocol/q-protocol-dir/PDGFRA_FISH_20150801.pdf
  • Rose MJ, Anishkin A, et al. Conformational changes in PDGFR upon tyrosine kinase activation visualized by using SAXS. Biophys J. 107(2):498-504
  • Van Glabbeke M, van Oosterom AT, et al. Predicting the risk of recurrence in patients with primary gastrointestinal stromal tumors: a comparison of three risk assessment tools. Eur J Cancer. 46(5):920-9

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