ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Leukopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.050 GeneticVariation disease BEFREE This was a rare case of PR3-positive MPA with AZA-induced severe neutropenia that was possibly due to an ITPA gene mutation. 30106365 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.050 GeneticVariation disease BEFREE Polymorphisms in TPMT might be associated with myelotoxicity and leukopenia in AZA treated patients, while ITPA variant alleles appear not to be linked with treatment-related side effects. 26674571 2016
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.050 GeneticVariation disease BEFREE Seven out of 19 patients (36.8%) with the ITPA 94C>A mutation developed leukopenia; however, this mutation may not unequivocally increase the risk of developing leukopenia. 26360046 2015
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.050 GeneticVariation disease BEFREE The purpose of this study was to investigate the relative risk of the thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) genotypes and TPMT activity for the development of leukopenia in Korean IBD patients during AZA/6-MP treatment. 20308917 2011
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.050 GeneticVariation disease BEFREE ITPA 94C>A and TPMT polymorphisms are associated with AZA-related leukopenia in IBD patients. 16431304 2006