TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.050 AlteredExpression disease BEFREE Our patient developed a severe pancytopenia on thioguanine therapy, with 6-thioguanine nucleotides levels more than 10 times higher than the upper limit of the therapeutic window and was found to be a TPMT poor metabolizer (TPMT *3A/*3A). 31464791 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.050 AlteredExpression disease BEFREE This case illustrates that decreased TPMT activity is not the only risk factor for pancytopenia as an adverse reaction to azathioprine. 30002211 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.050 GeneticVariation disease BEFREE A case of recurrent pancytopenia in a patient with acute promyelocytic leukemia on maintenance chemotherapy and concomitant methyltetrahydrofolate reductase and thiopurine S-methyltransferase mutation - review of literature. 25791511 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.050 Biomarker disease BEFREE TPMT deficiency in one patient had led to pancytopenia whereas only two of the remaining four patients with hematotoxicity displayed an intermediate phenotype of TPMT. 12172211 2002
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.050 GeneticVariation disease BEFREE Azathioprine-induced severe pancytopenia due to a homozygous two-point mutation of the thiopurine methyltransferase gene in a patient with juvenile HLA-B27-associated spondylarthritis. 9336428 1997