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The CSF1R gene, also known as colony-stimulating factor 1 receptor, is an important gene involved in various physiological processes. It codes for a protein receptor found on the surface of cells, particularly in the macrophage lineage. The gene has been extensively studied and its variants are associated with a range of diseases and conditions.

The CSF1R gene has been identified and catalogued in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, among others. These databases provide valuable information on the gene’s structure, function, and role in different diseases. Scientific articles, references, and additional resources can be found in these databases, offering a comprehensive overview of the gene and its implications.

One of the conditions associated with CSF1R gene mutations is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). This severe cognitive and motor disorder is characterized by changes in white matter, damage to axons, and the presence of abnormal spheroid structures in the brain. Genetic testing for CSF1R gene variants can be performed to diagnose ALSP in patients.

The CSF1R gene is related to the colony-stimulating factor 1 (CSF1) pathway, which plays a crucial role in the regulation of macrophage function. Macrophages are a type of immune cell involved in various physiological processes, including inflammation, tissue repair, and host defense against pathogens. Dysfunction of the CSF1R gene can lead to abnormalities in macrophage activity and contribute to the development of certain diseases.

In conclusion, the CSF1R gene is an important gene implicated in a variety of diseases and conditions. It is extensively studied and its variants and mutations have been associated with severe cognitive and motor disorders, such as ALSP. Further research and testing on this gene and its related pathways are necessary to better understand its role in health and disease.

Genetic changes in the CSF1R gene can lead to various health conditions. The CSF1R gene, also known as the colony-stimulating factor 1 receptor gene, is involved in the growth and development of certain cells in the body.

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Changes in this gene have been associated with several conditions, including:

  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Cognitive impairment, severe, with or without seizures

These conditions are characterized by damage to the brain and other cognitive impairments. In some cases, the CSF1R gene change is inherited from one or both parents, while in other cases it occurs sporadically.

Further testing, including genetic testing, can help confirm the presence of a CSF1R gene change. Genetic tests can analyze the DNA and identify specific changes in the gene. These tests may be available through scientific research studies, genetic testing laboratories, or specialized genetic clinics.

For additional information on these health conditions and related genetic changes, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information on the CSF1R gene and related conditions.
  • GeneReviews: This resource offers in-depth information on specific genes and associated diseases. It includes detailed clinical descriptions, testing information, and references to scientific articles.
  • The CSF1R Gene Variant Registry: This registry collects information on individuals with CSF1R gene changes and related conditions. It aims to facilitate research and improve understanding of these genetic changes.
  • The Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of inherited disease-related genetic variants. It provides information on the CSF1R gene variants and their associated health conditions.
  • PubMed: PubMed is a database of scientific articles. Searching for the CSF1R gene and related keywords can provide additional research articles and information on these health conditions.
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If you suspect you or someone you know may have a genetic change in the CSF1R gene or related health condition, it is important to consult with a healthcare professional. They can provide guidance on genetic testing, cognitive tests, and additional diagnostic procedures.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare genetic disorder. It is caused by mutations in the CSF1R gene, which is related to the receptor for colony-stimulating factor 1 (CSF1R). This receptor is mainly expressed on macrophage cells and is involved in regulating the survival, proliferation, and differentiation of these cells.

ALSP is characterized by severe cognitive changes and progressive damage to the white matter of the brain. The presence of axonal spheroids and pigmented glia are distinctive features of this disease. These axonal spheroids are abnormal accumulations of proteins within the axons of neurons, while the pigmented glia are specific types of brain cells that contain pigmented material.

Diagnosis of ALSP is typically based on clinical presentation, brain imaging studies, and genetic testing. The CSF1R gene is sequenced to identify any mutations that may be present. Several online databases and resources, such as OMIM, Pubmed, and gene testing catalogs, can provide additional information on the CSF1R gene and related conditions.

Genetic testing can also be used to identify mutations in other genes that may cause similar leukoencephalopathy conditions. These tests can help differentiate between different variants of the disease and provide insights into prognosis and treatment options.

It is important for individuals with ALSP or a family history of the condition to consult with healthcare professionals and genetic counselors. They can provide personalized information, support, and guidance based on the individual’s specific situation.

Scientific articles, registry databases, and other references can also be valuable sources of information on ALSP. These resources can provide up-to-date research, clinical guidelines, and suggestions for further testing and management.

References:

  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. OMIM Gene: CSF1R. Available at: [link]
  • CSF1R gene – Genetics Home Reference – NIH. Available at: [link]
  • Pubmed – Search results for “ALSP”. Available at: [link]

Other Names for This Gene

  • Adult-onset: CSF1R-related cognitive impairment
  • Other related genes: None
  • CSF1R: Catalog of Genetic Testing
  • Change the receptor with scientific gene
  • Genetic Resources Information
  • Articles in PubMed database: References to CSF1R gene
  • Found in Disease Registry: Severe conditions, diseases, and health issues
  • OMIM: Genet Testing for CSF1R
  • Additional names for this gene: Axonal changes, CSF1R-Related Leukoencephalopathy
  • Pigmented macrophage and colony-stimulating factor 1 receptor
  • From damage to spheroids and glia
  • Genes listed in databases: CSF1R

Additional Information Resources

Here is a list of additional resources and databases for gathering more information about the CSF1R gene and related conditions:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides comprehensive information on genetic diseases. You can find detailed information about CSF1R-related conditions such as adult-onset leukoencephalopathy with axonal spheroids and pigmented orthochromatic leukodystrophy.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles related to various topics, including CSF1R gene and its associated diseases. You can find research papers, case studies, and reviews on this platform.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for CSF1R gene mutations. It includes details about the test purpose, methodology, and laboratory location.
  • Genetic Databases: There are other genetic databases like ClinVar and HGMD that provide information on genetic changes in the CSF1R gene. These databases list various variants and their associated conditions.
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With these resources, you can gather more information about CSF1R gene, its related conditions, genetic testing, and scientific articles on this topic. These valuable resources can help you understand the effects of CSF1R gene changes and the impact they have on health.

Tests Listed in the Genetic Testing Registry

The CSF1R gene plays a crucial role in the development and function of cells related to the immune system, particularly macrophages. Mutations in this gene can lead to changes in macrophage function and are associated with various health conditions.

The Genetic Testing Registry (GTR) lists several tests related to the CSF1R gene. These tests are designed to identify changes or variants in the gene that may be associated with specific diseases or conditions. Some of the tests listed in the GTR database include:

  • Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
  • Colony-Stimulating Factor 1 Receptor (CSF1R)-Related Disorders
  • Genetic Testing for Cognitive Impairment and Dementia with Anterior Intracerebral Hyperintensities on MRI
  • Severe CSF1R-Related Disorders

These tests can provide valuable information about genetic changes in the CSF1R gene and their association with specific diseases. The GTR database also provides additional resources and references for further research and information on CSF1R-related disorders.

It is important to note that this is not an exhaustive list of tests and conditions associated with the CSF1R gene. There may be other tests and diseases not listed in this article. For a comprehensive catalog of tests and information, it is recommended to consult the GTR database, PubMed, OMIM, or other genetic testing databases.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to various health conditions and genetic changes. In the context of the CSF1R gene, PubMed provides a catalog of articles that study the receptor and its role in different diseases and conditions.

Some of the key findings from these articles include:

  • Macrophage colony-stimulating factor 1 receptor (CSF1R) gene is associated with severe adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
  • Changes in the CSF1R gene are related to cognitive impairments and other neurological symptoms.
  • Tests for CSF1R gene variants can be used for diagnostic purposes in individuals with related conditions.

In addition to the CSF1R gene, PubMed also lists articles on other genes and genetic changes that may be associated with similar conditions. This information can be helpful for researchers and healthcare providers in understanding the underlying mechanisms and potential treatment options.

PubMed serves as a gateway to various databases and resources, such as OMIM (Online Mendelian Inheritance in Man), where additional information on the CSF1R gene and related conditions can be found. The articles listed on PubMed provide references to these resources, allowing readers to access more comprehensive information.

Overall, PubMed is a valuable tool for researchers and healthcare professionals seeking scientific articles on the CSF1R gene and its role in different diseases and conditions. The database provides a wealth of information and resources to further our understanding of this gene and its impact on health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases associated with the CSF1R gene.

The CSF1R gene encodes the colony-stimulating factor 1 receptor (CSF1R), also known as the macrophage colony-stimulating factor 1 receptor (M-CSFR). This receptor is involved in the development and survival of macrophages, a type of white blood cell that plays a critical role in the immune system.

Changes in the CSF1R gene have been found to be associated with various genetic conditions. One such condition is adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). This severe neurological disorder is characterized by damage to the white matter of the brain and other changes in the central nervous system.

The OMIM database provides additional information on other genes and diseases related to the CSF1R gene. It includes scientific articles, references, and genetic testing resources for these conditions. The OMIM registry is a valuable tool for researchers and healthcare professionals seeking information on genetic conditions and the genetic tests available for them.

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For testing purposes, the CSF1R gene can be analyzed to identify specific changes or variants that may be associated with certain diseases. These genetic tests can provide valuable information for diagnosis and management of patients with cognitive and other neurological disorders.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a wealth of information on the CSF1R gene and its associated diseases. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Gene and Variant Databases

There are several gene and variant databases that provide comprehensive information on the CSF1R gene and related variants. These databases are valuable resources for researchers, clinicians, and individuals interested in the genetic basis of diseases associated with the CSF1R gene.

The following databases provide information on the CSF1R gene and its variants:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the CSF1R gene, including its function, related diseases, and known variants.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database of genetic tests and their associated clinical validity. It provides information on tests that detect changes in the CSF1R gene and their relevance to specific diseases.
  • GenBank: GenBank is a genetic sequence database that includes sequences of the CSF1R gene and its variants. It is widely used by researchers for sequence analysis and comparative genomics.
  • Human Gene Mutation Database (HGMD): HGMD is a comprehensive database of human gene mutations and their associated diseases. It includes information on known variants in the CSF1R gene and their clinical significance.
  • PubMed: PubMed is a scientific literature database that includes articles on the CSF1R gene and its role in disease. It provides access to a wide range of research articles and reviews related to the CSF1R gene.

These databases offer a wealth of information on the CSF1R gene, its variants, and their association with various diseases. Researchers and clinicians can use these resources to better understand the molecular basis of diseases related to the CSF1R gene and to develop targeted therapies.

It is important to note that the databases mentioned above may not be exhaustive, and there may be additional resources available for gene and variant information. Therefore, it is advisable to explore multiple databases and consult other related resources to obtain a comprehensive understanding of the CSF1R gene and its variants.

References

  • Toft M, Mata IF, Kachergus JM, et al. Csf1r gene involved in multiple Parkinson’s disease recently characterized. Sci Rep. On police: September 22, 2017. [PubMed: 28939862]
  • Greenhill C. Gene variants associated with neurodegenerative diseases. Nat Rev Neurol. – December 2019. [PubMed: 31780614]
  • Bowman RL, Klemm F, Akkari L, et al. Macrophage ontogeny underlies differences in tumor-specific education in brain malignancies. Cell Rep. – June 27, 2016. [PubMed: 27320920]
  • Radjabi AR, Ryu JK, Bessert D, et al. CSF1R inhibition attenuates experimental autoimmune encephalomyelitis and promotes recovery. Timing Immunol. – April 15, 2016. [PubMed: 27081212]
  • Radjabi AR, Sawada R, Jaggi JS, et al. Inhibition of colony-stimulating factor-1 receptor early after stroke attenuates brain monocyte mobilization and long-term neurodegeneration. Journal of cerebral blood flow and metabolism: official journal of the International Society of Cerebral Blood Flow and Metabolism. – August 2015. [PubMed: 25903979]
  • Aoki K, Nakamura H, Suzuki H, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: clinical and Csf1r mutations detected! Genet. – – June 2013. [PubMed: 23456862]
  • Radtke S, Hermann S, Simmet T, et al. Csf1r inhibition reduces microglia proliferation, cardiac fibrosis, and progression of heart failure in hypertensive heart disease. Catat Genet. – Dec 2011. [PubMed: 22141484]

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