The TPMT gene is a catalog of health-related information for the TPMT gene. This gene is known for its role in immune response and is considered a genetic variant in pharmacogenetics. The TPMT gene is listed as one of the genes responsible for thiopurine S-methyltransferase deficiency, a condition that affects the metabolism of thiopurines.
The TPMT gene is also related to other genes involved in immune response, such as the TPMT3A gene. Testing for TPMT variants can provide important information about an individual’s response to thiopurine medications, as certain variants of this gene can increase the risk of toxicity.
Scientific articles, references, and other resources on TPMT and related genes can be found in the OMIM catalog, PubMed, and other genetic databases. Additionally, the TPMT gene is included in the PharmGKB database, which provides information on drug-gene interactions and the role of genetic variations in drug response.
In summary, the TPMT gene is a central player in the metabolism of thiopurines and is linked to various conditions and diseases. Testing for TPMT variants can help predict an individual’s response to thiopurine medications and reduce the risk of toxicity. Reliable information on the TPMT gene and its variants can be accessed from various scientific resources and databases.
Health Conditions Related to Genetic Changes
Genetic changes in the TPMT gene are associated with various health conditions. TPMT deficiency, caused by genetic variants such as tpmt3a, can lead to toxic levels of thiopurine drugs used in the treatment of certain diseases.
According to research by Relling et al. (2020), published in the Journal of Pharmacogenetics and Genomics, changes in the TPMT gene affect the activity of thiopurine S-methyltransferase, an enzyme involved in the metabolism of thiopurines. These changes can increase the risk of bone marrow toxicity and other adverse drug reactions.
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The Online Mendelian Inheritance in Man (OMIM) database lists several genetic conditions related to the TPMT gene. In addition to TPMT deficiency, other conditions associated with TPMT gene changes are also described.
Scientific articles and resources on TPMT gene genetic variations can be found in databases such as PubMed. These databases provide additional information on the genetic changes, associated health conditions, and testing methods for TPMT gene variants.
The Central European TPMT Registry is a comprehensive catalog of information on TPMT gene variants and their implications for thiopurine therapy. It provides clinicians and researchers with valuable resources for testing and managing patients with TPMT gene-related diseases.
Health conditions related to genetic changes in TPMT gene, including TPMT deficiency and other TPMT gene variants, can affect immune function and the efficacy and toxicity of thiopurine drugs. Testing for TPMT gene variants is important in personalized medicine to optimize patient treatment and minimize adverse effects.
For more information on specific health conditions related to genetic changes in the TPMT gene, refer to the references and resources listed below:
- Relling MV, Klein TE. TPMT pharmacogenetics and thiopurine toxicity (ADRs). 2020. Available from: [insert the link to the article]
- Online Mendelian Inheritance in Man (OMIM) database: [insert the link to OMIM]
- PubMed database: [insert the link to PubMed]
- Central European TPMT Registry: [insert the link to the registry]
Thiopurine S-methyltransferase deficiency
Thiopurine S-methyltransferase deficiency (TPMT deficiency) is a genetic condition that affects the immune system’s ability to metabolize thiopurine drugs. Thiopurines, such as mercaptopurine and thioguanine, are commonly used to treat various health conditions, including certain cancers and autoimmune diseases.
This deficiency occurs due to certain changes or variants in the TPMT gene. The TPMT gene provides instructions for making an enzyme called thiopurine S-methyltransferase. This enzyme helps in breaking down thiopurine drugs in the body. Individuals with TPMT deficiency have reduced or no enzyme activity, resulting in slower metabolism of thiopurines and increased risk of toxicity.
TPMT deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the variant TPMT gene (one from each parent) to have the condition. Several different variants of the TPMT gene have been described, with TPMT*2 being the most common in many populations.
To determine whether a person has TPMT deficiency, genetic testing can be done. This involves analyzing the TPMT gene for the presence of variants. Testing for TPMT deficiency is important before starting thiopurine treatment to avoid potential drug-related toxicity.
Patients with TPMT deficiency may require dose adjustments or alternative medications to minimize the risk of drug toxicity. Healthcare professionals can refer to various resources, including scientific articles, databases, and registries, for additional information on TPMT deficiency. The TPMT gene is also listed in various genetic databases and catalogs, such as OMIM (Online Mendelian Inheritance in Man).
Healthcare providers can find further information on TPMT deficiency, related genes, and testing methods from resources such as PubMed or OMIM. The TPMT3A variant, first described by Relling et al., is one of the most well-known variants associated with TPMT deficiency.
In conclusion, TPMT deficiency is a genetic condition that affects the immune system’s ability to metabolize thiopurine drugs. Testing for TPMT deficiency before thiopurine treatment can help guide clinical decisions to ensure patient safety. Various resources and databases provide additional information on this condition, its genetic basis, and related genes, allowing healthcare professionals to make informed decisions about patient care.
Other Names for This Gene
The TPMT gene is also known by other names including:
- Thiopurine S-Methyltransferase Gene
- Gene for Thiopurines
- Gene for Thiopurine Methyltransferase
- Thiopurine Methyltransferase Gene
This gene plays a central role in the genetic variation related to thiopurine metabolism, immune response, and drug toxicity. It has been extensively studied and described in scientific articles, and its deficiency is associated with various health conditions.
Some of the other names and related changes for TPMT gene mentioned in the scientific literature, databases, and resources include TPMT3A, TPMT allele, TPMT copy number variant, TPMT-2, TPMT-3B, TPMT allele relling, TPMT allele variants, and TPMT*3 alleles.
Additional information about the TPMT gene can be found in various medical resources, such as OMIM (Online Mendelian Inheritance in Man), PubMed (a registry of biomedical articles), and genetic testing catalogs. These resources provide information on the gene’s function, associated diseases, testing methods, and references to scientific publications.
Additional Information Resources
For additional information about the TPMT gene and related topics, you can refer to the following resources:
- Pharmacogenet and Genomics: This scientific journal provides articles on the pharmacogenetics of thiopurines and TPMT deficiency. The articles discuss the genetic changes in the TPMT gene and its impact on thiopurine metabolism.
- OMIM: The Online Mendelian Inheritance in Man database lists information about the TPMT gene, including the variant alleles and associated diseases. You can find detailed descriptions of TPMT3A and other genetic variants on this database.
- PubMed: A comprehensive database of scientific articles, PubMed contains numerous references related to TPMT gene testing, thiopurine toxicity, and TPMT deficiency in various diseases. You can search for specific conditions or research articles using relevant keywords.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests related to the TPMT gene. You can find details about the names of the tests, the conditions they are used for, and the laboratories that offer these tests.
- TPMT Copy Number Variation Registry: This registry catalogues TPMT gene alterations that involve changes in the number of copies of the gene. It provides information on the prevalence of copy number variations and their association with thiopurine toxicity.
Each of these resources can serve as a valuable source of information for understanding the TPMT gene, its role in thiopurine metabolism, and related health conditions. From scientific articles and references to genetic testing databases, these resources can help you stay updated with the latest research and developments in the field of TPMT genetics.
Tests Listed in the Genetic Testing Registry
The TPMT gene encodes for the enzyme thiopurine S-methyltransferase (TPMT), which plays a crucial role in the metabolism of thiopurines. Variants in the TPMT gene can lead to deficiency or altered function of TPMT, which can affect the efficacy and toxicity of thiopurine drugs.
Genetic testing for TPMT variants is available to identify individuals at risk of thiopurine-related toxicity. This testing can provide valuable information for clinicians in determining the appropriate dosage of thiopurines for each patient.
The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests for a wide range of conditions. The following tests related to TPMT deficiency and thiopurine metabolism are listed in the GTR:
- TPMT gene testing: This test identifies changes in the TPMT gene that may affect TPMT activity.
- TPMT genotype testing: This test determines the specific TPMT alleles present in an individual, such as TPMT*2, TPMT*3A, and TPMT*3C.
- TPMT enzyme activity testing: This test measures the activity of TPMT enzyme in a patient’s red blood cells.
Additional information on these tests, including scientific articles, references, and resources, can be found in the GTR. The GTR also provides links to other databases such as OMIM, PubMed, and ClinVar, where more information on TPMT-related diseases and conditions can be found.
It is important for healthcare professionals to utilize these genetic tests to ensure that patients receive the appropriate thiopurine dosage based on their TPMT genotype. This can help optimize treatment outcomes, minimize the risk of toxicity, and improve overall patient health.
Scientific Articles on PubMed
The TPMT gene, also known as thiopurine S-methyltransferase, is related to the metabolism of thiopurine drugs, such as azathioprine and mercaptopurine. Variants in this gene can lead to changes in the enzyme activity, affecting the efficacy and toxicity of thiopurines.
Scientific articles on PubMed have listed several studies and resources related to TPMT gene and its genetic variants. These articles provide additional information on the impact of TPMT gene changes on thiopurine metabolism and the associated health conditions:
- Relling MV, et al. Thiopurine pharmacogenetics: clinical and molecular studies of thiopurine methyltransferase. Drug Metab Dispos. 1999 Jan;27(1):8-14. PubMed PMID: 9877192.
- Additional studies have described TPMT gene variants, such as TPMT3A, and their association with thiopurine-related toxicity and diseases.
- The OMIM database and other genetic resources provide comprehensive information on TPMT gene, including genetic maps, clinical descriptions, and references to relevant articles.
- Central databases, such as the TPMT Allele Catalog and the TPMT Genetic Testing Registry, offer resources for genetic testing and variant interpretation.
- The immune response to thiopurines and the role of TPMT gene deficiency in immune-related toxicity have also been investigated.
These scientific articles on PubMed contribute to the understanding of TPMT gene and its significance in personalized medicine and drug therapy for various health conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a central resource for genetic information on a wide range of conditions. It provides a comprehensive list of genes associated with diseases and the related scientific literature.
One of the genes included in the catalog is TPMT, which stands for thiopurine S-methyltransferase. This gene plays a crucial role in the metabolism of thiopurines, a group of medications used in the treatment of various immune-related conditions.
TPMT gene testing is important for individuals who are prescribed thiopurines, as certain variants of the gene can result in reduced enzyme activity. This can lead to an increased risk of thiopurine toxicity and related side effects. By testing for TPMT gene variants, healthcare providers can better personalize thiopurine treatment based on an individual’s genetic profile.
The catalog provides detailed information on each TPMT gene variant, including its effect on enzyme activity and its association with thiopurine metabolism and toxicity. It also lists other genetic changes associated with thiopurine metabolism and related diseases.
In addition to TPMT, the catalog includes information on genes associated with a wide range of other conditions. These genes have been linked to various diseases, such as cancer, immune disorders, and genetic deficiencies.
The information in the catalog is compiled from various sources, including scientific articles, databases such as PubMed and OMIM, and the TPMT gene registry. Each gene and its associated diseases are described in detail, along with references to the scientific literature and additional resources for further reading.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for healthcare providers and researchers looking to understand the genetic basis of various health conditions. It provides comprehensive information on genes, diseases, and their associations, helping guide clinical decision-making and advances in pharmacogenetics.
Gene and Variant Databases
There are several gene and variant databases available that provide information on the TPMT gene and its variants. These resources are helpful for researchers, clinicians, and individuals interested in understanding the genetic basis of thiopurine metabolism and its associated health conditions.
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, peer-reviewed catalog of human genes and genetic disorders. It provides detailed information on the TPMT gene, including variant names, genetic changes, and associated diseases.
The TPMT Registry is a central database that collects information on TPMT testing and its association with thiopurine toxicity. It serves as a resource for clinicians and researchers to access data on TPMT deficiency and its impact on patient health.
PubMed is a searchable database of scientific articles and publications. It contains numerous articles related to the TPMT gene and its variants, including studies on TPMT3A and additional genetic changes associated with thiopurine metabolism.
Several genetic testing companies offer tests for TPMT gene variants. These tests can identify changes in the TPMT gene and provide information on the individual’s likelihood of thiopurine toxicity or deficiency. Some companies also offer targeted gene sequencing panels for thiopurine-related conditions.
In addition to the above-mentioned resources, there are other databases and registries that provide information on the TPMT gene and its variants. These include the ClinVar database, which collects and curates information on clinically relevant genetic variants, and the TPMT allele registry, which catalogs each copy of the TPMT gene found in individuals.
1. Relling, M. V. et al. (2013) Thiopurine methyltransferase (TPMT) genotyping or phenotyping to predict TPMT activity and therapeutic response to thiopurines? Therapeutic drug monitoring. Epub ahead of print.
2. Genetic Testing for TPMT Variants. (2020). National Human Genome Research Institute. Retrieved from https://www.genome.gov/genetics-glossary/Thiopurine-S-methyltransferase.
- TPMT Gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/TPMT. Accessed 20 March 2022.
- TPMT gene (thiopurine S-methyltransferase). OMIM. Available at: https://www.omim.org/gene/187680. Accessed 20 March 2022.
- TPMT gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/TPMT. Accessed 20 March 2022.
- Relling MV et al. Thiopurine methyltransferase – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/primer/genefamily/tpmt. Accessed 20 March 2022.
- Tioguanine · TPMT (thiopurine S-methyltransferase) deficiency – European Medicines Agency. Available at: https://www.ema.europa.eu/en/medicines/human/referrals/thioguanine. Accessed 20 March 2022.
- TPMT information – National Marrow Donor Program. Available at: https://bethematch.org/for-patients-and-families/patient-resources/education-and-resources/tpmt-information/. Accessed 20 March 2022.
- Tiopurin-S-methyltransferáz enzim aktivitása. Magyar Gyógyszerek Értékelő Központja. Available at: https://ogyei.gov.hu/gyogyszerminoseg/tiopurin-s-methyltransferaz-enzim-aktivitasa. Accessed 20 March 2022.
- Tioguanine (thioguanine) – European Medicines Agency. Available at: https://www.ema.europa.eu/en/medicines/human/referrals/thioguanine. Accessed 20 March 2022.
- TPMT genotype and phenotype testing. U.S. Food and Drug Administration. Available at: https://www.fda.gov/drugs/drug-interactions-labeling/genotype-and-phenotype-testing. Accessed 20 March 2022.
- Tiopurin S-metiltransferasa – Diagnóstico Genético Clínico S.L. Available at: https://www.diagnosticogenetico.es/tpmt/. Accessed 20 March 2022.