TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
Disease: Crohn Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn's disease. 29206869 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE NUDT15 polymorphisms are better than thiopurine S-methyltransferase as predictor of risk for thiopurine-induced leukopenia in Chinese patients with Crohn's disease. 27604507 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE This study was conducted to investigate the thiopurine S-methyltransferase TPMT activity distribution and gene mutations in Tunisian population with positive diagnostic for Crohn's disease. 23553048 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE Currently, thiopurine S-methyltransferase (TPMT) deficiency is the only pharmacogenetic factor that is prospectively assessed before azathioprine or 6-mercaptopurine immunomodulation is commenced in patients with Crohn's disease (CD). 22741564 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE This is the case report of an Asian patient with Crohn disease harbouring a rare TPMT mutation on DNA sequencing, who developed neutropenic sepsis and anaemia after a flare of Crohn disease. 19356188 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE Monitoring of TPMT activity and three thiopurine metabolites was performed prospectively during a 1 year postoperative period in 21 patients with Crohn's disease randomly assigned to azathioprine (2.0-2.5 mg/kg per day) or mesalazine (4 g/day). 17304143 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE ITPA(94C>A, IVS2+21A>C) and TPMT (238G>C, 460G>A, and 719A>G) genotypes were assessed in 262 IBD patients (159 females, 103 males; 67 patients with ulcerative colitis, 195 patients with Crohn's disease) treated with AZA and were correlated with the development of leukopenia and hepatotoxicity. 16431304 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 Biomarker disease BEFREE We performed a decision analysis to estimate the potential costs and effectiveness of TPMT screening and MM as disease management strategies for CD. 16181376 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE In a cross-sectional study we investigated relationships between the clinical outcome and Aza dose, the TPMT genotype and the Aza metabolite levels among patients with Crohn disease. 14531535 2003
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE The study showed a TPMT genotype distribution amongst adult Danish patients with Crohn's disease which was similar to the distribution of TPMT variant alleles normally found in healthy Caucasians. 12492733 2003
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 AlteredExpression disease BEFREE patients with Crohn's disease and normal TPMT activity who were started on high-dose AZA (2-2.5mg /kg/d) and patients with intermediate enzyme activity who were started on reduced doses of AZA did not develop acute leukopenia. 12192200 2002
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease BEFREE Twenty-seven percent of patients with CD and myelosuppression during azathioprine therapy had mutant alleles of the TPMT gene associated with enzyme deficiency. 10833476 2000