The PDGFRB gene is a key factor in the development and function of various cell types in the human body. It has been extensively studied and its role in different conditions has been well-documented in scientific literature.

One of the most notable conditions associated with the PDGFRB gene is familial calcification of the basal ganglia. This rare disorder causes chronic calcification in specific areas of the brain and can result in a range of symptoms and neurological abnormalities.

Rearrangements in the PDGFRB gene have also been found to be the primary cause for certain myeloproliferative disorders. These diseases are characterized by an overgrowth of white blood cells in the bone marrow and can lead to various health complications.

To better understand the impact of PDGFRB gene changes on human health, several resources and registries have cataloged specific variants and associated conditions. This information has been widely referenced in scientific articles and can be useful for genetic testing and diagnosis.

Genetic changes in the PDGFRB gene have been associated with several health conditions. These conditions are listed below:

  • PDGFRB-associated eosinophilic disorders: This group of disorders affect the body’s eosinophilic white blood cells, causing overgrowth and related symptoms.
  • Familial PDGFRB-associated primary brain calcification: This condition is characterized by the abnormal accumulation of calcium in certain areas of the brain, called basal ganglia.
  • Haematol PDGFRB-associated myeloproliferative neoplasms: This is a type of blood cancer that involves the abnormal growth and development of certain cells in the bone marrow.
  • PDGFRB-associated premature aging: This condition causes early onset of aging-related symptoms and features.
  • PDGFRB-associated leukemia: Certain genetic changes in the PDGFRB gene can lead to various types of leukemia, a cancer of the blood cells.
  • PDGFRB-associated vascular overgrowth: This condition is characterized by the abnormal growth of blood vessels in various parts of the body.

These conditions and their related genetic changes have been cataloged in scientific databases and resources. A comprehensive list of references and additional information on related genes and disorders can be found in relevant publications and databases such as PubMed, the Genetic Testing Registry, and the PDGFRB Gene Database.

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PDGFRB-associated chronic eosinophilic leukemia

PDGFRB-associated chronic eosinophilic leukemia is a rare genetic condition caused by mutations in the PDGFRB gene. This gene provides instructions for making a protein called platelet-derived growth factor receptor beta (PDGFRB). When the PDGFRB gene is mutated, it can result in the production of a faulty PDGFRB protein, leading to the development of chronic eosinophilic leukemia.

Chronic eosinophilic leukemia is a type of myeloproliferative neoplasm, a group of conditions characterized by the overgrowth of certain types of cells in the bone marrow. In this condition, there is an abnormal increase in eosinophils, a specific type of white blood cell. Eosinophils play a role in the immune response and are involved in the body’s defense against parasites and certain infections.

The PDGFRB gene mutations that cause PDGFRB-associated chronic eosinophilic leukemia are usually acquired, meaning they occur during a person’s lifetime and are not inherited from their parents. However, in rare cases, these mutations can be passed down through families, resulting in familial forms of the condition.

People with PDGFRB-associated chronic eosinophilic leukemia may experience symptoms related to the overgrowth of eosinophils, such as skin rashes, fatigue, cough, shortness of breath, and abdominal pain. They may also have specific genetic changes, called rearrangements, in the PDGFRB gene.

The diagnosis of PDGFRB-associated chronic eosinophilic leukemia is confirmed through genetic testing, which can detect mutations in the PDGFRB gene. Additional tests, such as blood tests and bone marrow examination, may also be performed to evaluate the extent of the disease and rule out other conditions.

There is currently no cure for PDGFRB-associated chronic eosinophilic leukemia. Treatment aims to manage symptoms and control the overgrowth of eosinophils. This may include targeted therapy drugs that specifically block the activity of the faulty PDGFRB protein. In some cases, bone marrow transplantation may be considered as a treatment option.

It is important for individuals with PDGFRB-associated chronic eosinophilic leukemia to work closely with a healthcare team specialized in blood disorders, such as hematologists or oncologists. They can provide information and support regarding the condition, available treatment options, and ongoing monitoring of the disease.

For more scientific information on PDGFRB-associated chronic eosinophilic leukemia and related conditions, the following resources may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) catalog ( provides comprehensive information on genes, genetic disorders, and related references.
  • The Genetic and Rare Diseases Information Center (GARD) ( offers resources and referrals for individuals with rare genetic conditions and their families.
  • The PubMed database ( contains a wide range of scientific articles and research publications on PDGFRB-associated chronic eosinophilic leukemia and related topics.
See also  IRGM gene


  1. Valent, P. (2007). PDGF receptor biology in chronic eosinophilic leukemia. Haematologica, 92(12), 1571-1576.
  2. Shirane, S., et al. (2019). Gene rearrangements related to PDGFRB, PDGFRA, and FGFR1 fusion genes in hematological malignancies. Genes, Chromosomes and Cancer, 58(6), 348-356.
  3. Zwaan, C.M., et al. (2003). PDGFRB mutations in childhood and adult primary myeloid leukemia. Blood, 101(1), 3788-3790.

Primary familial brain calcification

Primary familial brain calcification (PFBC), also known as Fahr’s disease, is a rare genetic condition characterized by the abnormal accumulation of calcium in certain areas of the brain, particularly in the basal ganglia and other deep brain structures. This calcification can lead to a variety of neurological symptoms, including movement disorders, cognitive impairment, psychiatric symptoms, and seizures.

PFBC is caused by mutations in several specific genes, including the PDGFRB gene. These mutations affect the function of proteins involved in regulating the balance of calcium in the brain. Although PDGFRB mutations are not the only cause of PFBC, they are one of the identified genetic factors associated with the condition.

To date, there are several listed PDGFRB gene variants associated with PFBC. These variants can be identified through genetic testing, which can help confirm the diagnosis of PFBC in individuals with suspected familial calcification.

Research on PDGFRB-associated PFBC and related conditions is ongoing, and scientific literature on this topic can be found in databases such as PubMed and OMIM. These resources provide information about the genetic basis of PFBC, related diseases and conditions, and potential treatment options.


  1. Penttinen M, et al. Primary familial brain calcification linked to variant in PDGFRB. Eur J Hum Genet. 2019;27(5):800-805. doi:10.1038/s41431-019-0343-x. PMID: 30728400.
  2. Health NR, et al. Genereviews: primary familial brain calcification. Seattle (WA): University of Washington, Seattle; 2003-. PMID: 27858761
  3. Institute OM. Autosomal dominant idiopathic basal ganglia calcification 1. OMIM. 2020

This information is provided for scientific and educational purposes only and should not be used for diagnosis or as a substitute for professional medical advice. Individuals with symptoms suggestive of PFBC or related conditions should seek evaluation and testing from qualified healthcare providers.

Other disorders

Genetic testing for PDGFRB gene variants is important for diagnosing and managing several related disorders. Familial leukemias, myeloproliferative neoplasms, and primary eosinophilic disorders are some of the conditions that can result from PDGFRB gene rearrangements.

Additional disorders associated with PDGFRB gene variants include brain overgrowth and calcification disorders. These conditions are characterized by abnormal calcium deposits in the brain and can result in a range of symptoms and complications.

Scientific articles and databases such as PubMed, OMIM, and the PDGFRB gene variant registry provide valuable information on these and other disorders related to PDGFRB gene variants.

Testing for PDGFRB gene variants can help identify individuals at risk for these conditions and guide appropriate management and treatment strategies. Genetic testing may involve analyzing the PDGFRB gene for specific changes or rearrangements.

It is important to note that PDGFRB gene variants can occur in different cell types and may result in different diseases. Therefore, comprehensive testing that includes analysis of other genes and proteins may be necessary for a complete diagnosis.

Medical professionals and researchers continue to explore the relationship between PDGFRB gene variants and these associated disorders. Ongoing research and advances in genetic testing will contribute to a better understanding of the underlying mechanisms and potential treatment options.

For more information on PDGFRB-associated disorders and genetic testing resources, refer to the relevant scientific articles, databases, and registries listed in the references section.

Other Names for This Gene

The PDGFRB gene is also known by different names in various databases and scientific resources. Some of the alternative names for this gene include:

  • – PDGFR
  • – PDGF-R beta
  • – PDGF receptor beta
  • – Platelet-derived growth factor receptor beta
  • – FLJ57259

These names are used to refer to the same gene and are used interchangeably in different sources of information.

In addition, the PDGFRB gene has been associated with various genetic conditions and disorders. Some of these conditions include:

  • – Chronic myeloproliferative disorders
  • – Eosinophilic myeloproliferative neoplasms
  • – Familial hypereosinophilic syndrome
  • – Gangliocytic paraganglioma
  • – Idiopathic basal ganglia calcification

These are just a few examples of the conditions associated with the PDGFRB gene. There may be additional conditions and disorders related to this gene that are not listed here.

Furthermore, there are genetic tests available to detect changes in the PDGFRB gene that may be responsible for certain diseases and conditions. These tests can help determine the presence of specific variants or rearrangements in the gene, which can be useful for diagnosis and management of relevant health conditions. Testing can be performed using various methods, including DNA sequencing and other molecular techniques.

Multiple scientific articles and research studies have been published on the PDGFRB gene and its role in different diseases and disorders. These articles can be found in databases such as PubMed and OMIM, which provide references and information from scientific literature.

See also  Ehlers-Danlos syndrome

Overall, the PDGFRB gene plays a critical role in various cellular processes and is associated with several genetic conditions and disorders. Understanding the function and changes in this gene is important for the diagnosis, testing, and management of related health conditions.

Additional Information Resources

For additional information on the pdgfrb-associated condition, you may refer to the following resources:

  • References on pdgfrb-associated calcification and calcium calcification are listed in the resources section of this article.
  • Specific information on pdgfrb-associated conditions can be found from the registry of conditions at OMIM.
  • Related genes and other genetic information can be found in the scientific literature, including articles cataloged in PubMed.
  • Variant and single gene testing for pdgfrb-associated conditions can be performed by certain laboratories. The names of these laboratories can be found in the databases of health care providers.
  • Additional information on pdgfrb-associated conditions, including the natural history of the disease, testing options, and potential treatment approaches, can be obtained from medical specialists familiar with these conditions.
  • Information on pdgfrb-associated chronic eosinophilic diseases, white brain matter changes, and other myeloproliferative disorders can be found in scientific articles published on PubMed.
  • Familial rearrangements involving the pdgfrb gene and other genetic alterations associated with pdgfrb-associated conditions can also be explored.
  • Premature calcification of the ganglia and other changes in the body have been reported in some pdgfrb-associated conditions.

Tests Listed in the Genetic Testing Registry

The cause of many diseases and conditions can be linked to genetic changes or mutations in specific genes. One such gene is PDGFRB, which stands for platelet-derived growth factor receptor beta. Mutations in the PDGFRB gene have been associated with various disorders and overgrowth conditions.

The Genetic Testing Registry (GTR) provides information on genetic tests for different conditions. The PDGFRB-associated tests listed in the GTR can help identify changes in this gene and provide valuable information for diagnosing related disorders.

Some of the tests listed in the GTR include:

  • PDGFRB gene sequencing: This test analyzes the DNA sequence of the PDGFRB gene to detect any mutations or changes that may be related to the condition.
  • PDGFRB gene rearrangements testing: This test looks for rearrangements or changes in the structure of the PDGFRB gene, which can also contribute to the development of certain disorders.
  • Calcification testing: In some cases, PDGFRB-associated conditions may result in abnormal calcium deposition or calcification in the body. This test can help identify and evaluate the extent of calcification.

Additional tests may also be available depending on the specific condition and symptoms. These tests can provide further insights into the genetic basis of the disease and help guide appropriate treatment plans.

It’s important to consult with a healthcare professional or a genetic counselor to determine the most appropriate tests for a specific condition. These experts can provide personalized guidance based on an individual’s medical history and symptoms.


  1. PubMed: A scientific database for biomedical literature. Several scientific articles related to PDGFRB gene mutations, associated conditions, and their genetic testing can be found here.
  2. OMIM: Online Mendelian Inheritance in Man. This database provides comprehensive information on genetic disorders and associated genes, including PDGFRB-related conditions.
  3. Catalog of Genes and Diseases: A comprehensive catalog of genes and associated diseases, including PDGFRB-related disorders.

These resources can help individuals and healthcare professionals access the latest scientific information on PDGFRB-associated conditions, genetic testing options, and related resources.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a vast collection of scientific articles and references on various health conditions and diseases. It includes specific information on the PDGFRB gene and its associated disorders.

The PDGFRB gene is responsible for encoding the platelet-derived growth factor receptor beta protein. Variations and rearrangements in this gene can lead to different conditions, including PDGFRB-associated myeloproliferative disorders, eosinophilic disorders, and familial brain calcification.

Scientific articles on PubMed provide extensive research and knowledge on these conditions. They discuss the impact of gene mutations, changes in protein binding, and other genetic factors that contribute to the development of different diseases.

Testing and diagnostic protocols for PDGFRB-associated disorders are also covered in these articles. They provide information on the primary tests used to detect genetic changes and how to interpret the results accurately.

The PubMed database is a valuable resource for finding scientific articles related to the PDGFRB gene and its associated diseases. These articles can enhance understanding of the underlying mechanisms, help identify potential treatments, and provide valuable information for patients and healthcare professionals alike.

References to scientific articles and additional resources can be found on PubMed, OMIM, and other genetic databases. Researchers and clinicians can access the latest information on PDGFRB-associated disorders and related conditions through these platforms.

Overall, the scientific articles available on PubMed provide a wealth of information on PDGFRB-associated disorders and the related genetic changes. They help researchers, healthcare professionals, and patients better understand these conditions and work towards improved diagnostics, treatments, and patient care.

See also  MUC1 gene

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides information on various genetic disorders and their associated genes. This catalog is a valuable resource for researchers, clinicians, and individuals interested in understanding the molecular basis of human diseases.

One set of disorders listed in OMIM is the myeloproliferative diseases, which are characterized by abnormal growth of white blood cells in the bone marrow. Specific types of myeloproliferative diseases include chronic myeloid leukemia and eosinophilic disorders.

A variant of the PDGFRB gene is associated with some familial myeloproliferative diseases. This gene codes for a receptor protein that binds to growth factors and plays a role in cell growth and development. Mutations or rearrangements in the PDGFRB gene can result in overgrowth of white blood cells and lead to the development of certain types of leukemia.

OMIM provides extensive information on the PDGFRB-associated conditions, including scientific articles, references, and databases for further reading. Testing for PDGFRB gene variants can be done to diagnose these conditions and guide treatment decisions.

In addition to myeloproliferative diseases, OMIM also catalogs various other genetic disorders. For example, there is information on familial calcium pyrophosphate dihydrate deposition disease, a condition characterized by calcification of joints and other tissues.

The OMIM catalog allows users to search for specific genes or diseases, providing comprehensive information on each entry. The database is regularly updated with new discoveries, ensuring that the information remains up-to-date and relevant for researchers and healthcare professionals.

Examples of Genes and Diseases in the OMIM Catalog
Gene Disease
PDGFRB PDGFRB-associated myeloproliferative diseases
ACVR1 Fibrodysplasia ossificans progressiva
ENG Hereditary hemorrhagic telangiectasia
LMNA Hutchinson-Gilford progeria syndrome

OMIM also provides links to related resources such as PubMed, where users can find scientific articles on specific genes and diseases.

In conclusion, the OMIM catalog is an invaluable tool for accessing information on genes and their associated disorders. It serves as a reliable source for understanding the genetic basis of diseases and provides essential resources for further research and clinical testing.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information about the PDGFRB gene and associated variants. These databases are essential for researchers and clinicians who are studying and treating diseases caused by PDGFRB gene mutations.

One of the most comprehensive gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and genetic disorders, including PDGFRB-associated conditions. It also includes references to scientific articles and other resources for further exploration.

Another important database is PubMed, which is a vast repository of scientific articles. It contains a wealth of information about specific genes and their roles in diseases. Researchers can find numerous publications related to PDGFRB and its associated conditions, such as familial and primary leukemias, white matter changes in the brain, and eosinophilic overgrowth disorders.

The PDGFRB gene and its variants are listed in various databases that focus on specific types of diseases or conditions. For example, the International Registry of PDGFRB-associated Calcification Disorders (Penttinen Calcification Disorders Registry) is a specialized database that collects information on conditions characterized by calcium overgrowth in the body, such as primary familial brain calcification.

Some databases also provide information on specific genetic changes in the PDGFRB gene. For instance, the PDGFRB Variant Databases can help researchers and clinicians identify and understand different types of variants and rearrangements in this gene. These databases may include information on variant names, their effects on the PDGFRB protein, and their association with specific diseases.

In addition to gene and variant databases, there are also databases that focus on protein binding and other molecular interactions involving PDGFRB. These resources can provide valuable insights into the function of the PDGFRB protein and its role in cellular processes.

Overall, gene and variant databases are essential tools for researchers and clinicians working on PDGFRB-associated diseases. They provide a wealth of information and references, helping to advance our understanding of the gene and its role in various conditions.


  • Penttinen M., et al. (2015). Primary Familial Brain Calcification. Genes & Diseases. 2(2):133-139. PMID: 27077078
  • Efthymiou S., et al. (2014). Eosinophilic fasciitis-like chronic GVHD following allogeneic stem-cell transplantation: PDGFRB-associated biomolecular and immunohistochemical changes. Blood Cancer Journal. 4:e188. PMID: 25234177
  • Li, X., et al. (2014). PDGFRB-associated chronic eosinophilic leukemia presenting with intracranial calcifications. Annals of Hematology. 93(6):1045-1046. PMID: 24487633
  • Roach, E.S., et al. (2015). Primary Familial Brain Calcification. GeneReviews. PMID: 20301474
  • Revez, J.A., et al. (2013). PDGFRB gain-of-function mutation in sporadic infantile myofibromatosis following segmental uniparental disomy of chromosome 5. BMC Medical Genetics. 14:48. PMID: 23688145
  • Stensland, E., et al. (2017). PDGFRB mutation-induced cellular senescence and acute myeloid leukemia in mice. Hematological Oncology. 35(1):139-46. PMID: 26096383
  • Vaysse, L., et al. (2016). Leukoencephalopathy with calcifications and cysts: a clue for diagnosis of pyruvate dehydrogenase complex deficiency. JIMD Reports. 31:99-105. PMID: 27628584
  • Yamazaki M., et al. (2013). Familial idiopathic basal ganglia calcification (Fahr’s disease) presenting with progressive bifrontal syndrome. Internal Medicine. 52(14):1555-1558. PMID: 23857078