TPMT gene related symptoms and diseases
All the information presented here about the TPMT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TPMT gene
Symptoms // Phenotype | % Cases |
---|---|
Abnormality of metabolism/homeostasis | Very Common - Between 80% and 100% cases |
Autoimmunity | Very Common - Between 80% and 100% cases |
Leukemia | Very Common - Between 80% and 100% cases |
Pancytopenia | Very Common - Between 80% and 100% cases |
Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TPMT gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pancreatitis
- Leukopenia
- Glomerulonephritis
- Abnormality of blood and blood-forming tissues
- Acute lymphoblastic leukemia
Rare diseases associated to TPMT gene
Here you will find a list of rare diseases related to the TPMT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THIOPURINES, POOR METABOLISM OF, 1; THPM1
Alternate names
THIOPURINES, POOR METABOLISM OF, 1; THPM1 Is also known as thiopurine s-methyltransferase deficiency, tpmt deficiency, tpmtd
Description
THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989).The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (OMIM ) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005).
Most common symptoms of THIOPURINES, POOR METABOLISM OF, 1; THPM1
- Abnormality of metabolism/homeostasis
- Autoimmunity
- Leukemia
- Pancytopenia
- Bone marrow hypocellularity
More info about THIOPURINES, POOR METABOLISM OF, 1; THPM1
Search interest in TPMT
Potential gene panels for TPMT gene
TPMT Genotyping Panel
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the TPMT gene.
More info about this panelTPMT. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TPMT gene.
More info about this panelThiopurine S-methyltransferase deficiency (genotyping of TPMT gene) Panel
By CGC Genetics
This panel specifically test the TPMT gene.
More info about this panelThiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TPMT gene.
More info about this panelThiopurine S-Methytransferase deficiency Panel
By DNA Diagnostics Laboratory University Hospital Ostrava
This panel specifically test the TPMT gene.
More info about this panelTPMT deficiency Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TPMT gene.
More info about this panelPharmacogenetic panel Panel
By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19
More info about this panelThiopurine methyltransferase deficiency Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the TPMT gene.
More info about this panelTPMT(1) genotyping Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the TPMT gene.
More info about this panelTPMT(2) gene sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the TPMT gene.
More info about this panelThiopurin S-Methyltransferase deficiency Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the TPMT gene.
More info about this panelThiopurine S-Methyltransferase (TPMT) genotyping Panel
By Molecular Diagnosis Centre National University Hospital
This panel specifically test the TPMT gene.
More info about this panelThiopurin S-Methyltransferase deficiency Panel
By MedGene
This panel specifically test the TPMT gene.
More info about this panelThiopurine methyltransferase deficiency: TPMT gene polymorphism analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TPMT gene.
More info about this panelTPMT Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TPMT gene.
More info about this panelDrug Metabolizing Enzymes and Transporters Panel
By Developmental and Neurogenetics Laboratory Medical College of Wisconsin Drug Metabolizing Enzymes and Transporters that also includes the following genes: TPMT CYP2C19 CYP2D6
More info about this panelTPMT Panel
By Genelex
This panel specifically test the TPMT gene.
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelPurine and Pyrimidine Metabolism Disorders Panel Panel
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panelThiopurine S-methyltransferase Panel
By Bioarray
This panel specifically test the TPMT gene.
More info about this panelChemo DME Panel Panel
By Castle Medical Molecular Diagnostics Castle Medical, LLC Chemo DME Panel that also includes the following genes: TPMT UGT1A1 DPYD
More info about this panelMedication Response Genetic Test Panel
By Color Medication Response Genetic Test that also includes the following genes: SLCO1B1 TPMT IFNL3 NUDT15 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5
More info about this panelOneOme RightMed comprehensive test Panel
By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19
More info about this panelRxight Pharmacogenetics Program Panel
By MD Labs MD Labs Rxight Pharmacogenetics Program that also includes the following genes: SLCO1B1 TPMT UGT2B15 ANKK1 VKORC1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2D6
More info about this panelTHIOPURINE TOXICITY (TPMT) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TPMT gene.
More info about this panelTPMT genotyping Panel
By Alpha Genomix Laboratories
This panel specifically test the TPMT gene.
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelThiopurine Methyltransferase Deficiency , Polymorphisms TPMT Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TPMT gene.
More info about this panelThiopurine methyltransferase deficiency Panel
By Labor Dr. Wisplinghoff
This panel specifically test the TPMT gene.
More info about this panelCEP72/NUDT15/TPMT Panel Panel
By RPRD Diagnostics, LLC RPRD Diagnostics, LLC CEP72/NUDT15/TPMT Panel that also includes the following genes: TPMT NUDT15
More info about this panelPharmacoScan Panel
By RPRD Diagnostics, LLC RPRD Diagnostics, LLC PharmacoScan that also includes the following genes: SLCO1B1 TPMT UGT1A1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 DPYD
More info about this panelAzathioprine response Panel
By Xcode Life Xcode Life
This panel specifically test the TPMT gene.
More info about this panel152 Integrated Advantage NGS Solid Tumor Panel Panel
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelTPMT genotyping Panel
By Molecular Genetics, Sunnybrook HSC Sunnybrook Health Sciences Centre
This panel specifically test the TPMT gene.
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