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). Genetic Heterogeneity of Poor Thiopurine MetabolismSee also THPM2 (OMIM ), caused by variation in the NUDT15 gene (OMIM ) on chromosome 13q14.

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

SOURCES: MESH ORPHANET OMIM


Potential gene panels for TPMT gene

TPMT Genotyping Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the TPMT gene.

More info about this panel
United States.

TPMT. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TPMT gene.

More info about this panel
Spain.

Thiopurine S-methyltransferase deficiency (genotyping of TPMT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TPMT gene.

More info about this panel
Portugal.

Thiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TPMT gene.

More info about this panel
United States.

Thiopurine S-Methytransferase deficiency Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the TPMT gene.

More info about this panel
Czech Republic.

TPMT deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TPMT gene.

More info about this panel
Germany.

Pharmacogenetic panel Panel

Germany.

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 panel
Germany.

Thiopurine methyltransferase deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the TPMT gene.

More info about this panel
Germany.

TPMT(1) genotyping Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the TPMT gene.

More info about this panel
United States.

TPMT(2) gene sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the TPMT gene.

More info about this panel
United States.

Thiopurin S-Methyltransferase deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TPMT gene.

More info about this panel
Austria.

Thiopurine S-Methyltransferase (TPMT) genotyping Panel

Singapore.

By Molecular Diagnosis Centre National University Hospital

This panel specifically test the TPMT gene.

More info about this panel
Singapore.

Thiopurin S-Methyltransferase deficiency Panel

Slovakia.

By MedGene

This panel specifically test the TPMT gene.

More info about this panel
Slovakia.

Thiopurine methyltransferase deficiency: TPMT gene polymorphism analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TPMT gene.

More info about this panel
Spain.

TPMT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TPMT gene.

More info about this panel
United States.

Drug Metabolizing Enzymes and Transporters Panel

United States.

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 panel
United States.

TPMT Panel

United States.

By Genelex

This panel specifically test the TPMT gene.

More info about this panel
United States.

Comprehensive Metabolism Panel Panel

Finland.

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 panel
Finland.

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

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 panel
Finland.

Thiopurine S-methyltransferase Panel

Spain.

By Bioarray

This panel specifically test the TPMT gene.

More info about this panel
Spain.

Chemo DME Panel Panel

United States.

By Castle Medical Molecular Diagnostics Castle Medical, LLC Chemo DME Panel that also includes the following genes: TPMT UGT1A1 DPYD

More info about this panel
United States.

Medication Response Genetic Test Panel

United States.

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 panel
United States.

OneOme RightMed comprehensive test Panel

United States.

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 panel
United States.

Rxight Pharmacogenetics Program Panel

United States.

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 panel
United States.

THIOPURINE TOXICITY (TPMT) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TPMT gene.

More info about this panel
Spain.

TPMT genotyping Panel

United States.

By Alpha Genomix Laboratories

This panel specifically test the TPMT gene.

More info about this panel
United States.

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

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 panel
United States.

Thiopurine Methyltransferase Deficiency , Polymorphisms TPMT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TPMT gene.

More info about this panel
Spain.

Thiopurine methyltransferase deficiency Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the TPMT gene.

More info about this panel
Germany.

CEP72/NUDT15/TPMT Panel Panel

United States.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC CEP72/NUDT15/TPMT Panel that also includes the following genes: TPMT NUDT15

More info about this panel
United States.

PharmacoScan Panel

United States.

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 panel
United States.

Azathioprine response Panel

India.

By Xcode Life Xcode Life

This panel specifically test the TPMT gene.

More info about this panel
India.

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

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 panel
United States.

Tempus xT assay Panel

United States.

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 panel
United States.

Tempus xO assay Panel

United States.

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 panel
United States.

TPMT genotyping Panel

Canada.

By Molecular Genetics, Sunnybrook HSC Sunnybrook Health Sciences Centre

This panel specifically test the TPMT gene.

More info about this panel
Canada.

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