ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 Biomarker disease BEFREE ITPA related epileptic encephalopathy (epileptic encephalopathy, early infantile, 35) is a rare inborn error of metabolism. 30816001 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 GeneticVariation disease UNIPROT Recessive ITPA mutations cause an early infantile encephalopathy. 26224535 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 GermlineCausalMutation disease ORPHANET Recessive ITPA mutations cause an early infantile encephalopathy. 26224535 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 Biomarker disease GENOMICS_ENGLAND ITPase-deficient mice show growth retardation and die before weaning. 19498443 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 CausalMutation disease CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
0.710 Biomarker disease CTD_human
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency
0.700 GeneticVariation disease UNIPROT DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. 12436200 2002
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency
0.700 GeneticVariation disease UNIPROT Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. 12384777 2002
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency
0.700 CausalMutation disease CLINVAR
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency
0.700 Biomarker disease CTD_human
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 AlteredExpression disease BEFREE Genetic variants of inosine triphosphatase (ITPA) that confer reduced ITPase activity are associated with protection against ribavirin(RBV)-induced hemolytic anemia in peginterferon(IFN)/RBV-based treatment of hepatitis C virus (HCV). 29851985 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Multivariate analysis showed that IPTA rs1127354 non-genotype CC, HCV genotype, a baseline HCV RNA level <4 × 10 IU/mL, IL-28B rs12979860 genotype CC, and low liver fibrosis were independent predictors for SVR during the combination therapy.IPTA rs1127354 variants and related ITPase were not only related with ribavirin-induced hemolytic anemia but also directly affected the SVR to PEG-IFN plus ribavirin combination therapy in Chinese HCV-infected patients. 28723780 2017
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Impact of ITPA gene polymorphisms on the risk of ribavirin-induced haemolytic anaemia using interferon-free antivirals for chronic hepatitis C. 28198349 2017
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 AlteredExpression disease BEFREE Individuals with lower inosine triphosphatase (ITPA) enzyme activity have a reduced likelihood of experiencing hemolytic anemia during hepatitis C virus (HCV) treatment containing ribavirin (RBV). 27349952 2017
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Although genetic variants in inosine triphosphatase (ITPA) gene have been linked to the haemolytic anaemia induced by PR, the mechanism sustaining severe anaemia during triple therapy is still unknown. 26104535 2016
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE ITPA genetic variants protect against ribavirin-induced hemolytic anemia and C20orf194 also proved to be protective against thrombocytopenia. 27833958 2016
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Genetic polymorphisms in the inosine triphosphatase (ITPA) gene have been associated with the protection from early ribavirin(RBV)-induced hemolytic anemia among patients with chronic hepatitis C virus (HCV) infection. 26441325 2015
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE We performed a meta-analysis of all eligible studies assessing ITPA gene polymorphisms related to RBV-induced hemolytic anemia in HCV-infected patients published in PubMed, Embase and the Cochrane library prior to the end of 2014. 26438033 2015
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Additionally, inosine triphosphatase (ITPA) gene variants were found to be associated with RBV-induced hemolytic anemia, which could affect treatment dose for selected patients. 24022240 2014
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Recently, genome-wide association studies (GWAS) in patients with chronic hepatitis C virus (HCV) infection have identified two functional single nucleotide polymorphisms (SNPs) in the inosine triphosphatase (ITPA) gene, that are associated strongly and independently with hemolytic anemia in patients exposed to pegylated-interferon (Peg-IFN) plus ribavirin (RBV) combined therapy. 23201294 2013
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Published studies have described a strong association with a single-nucleotide polymorphism (SNP) in the inosine triphosphate pyrophosphatase (ITPA) gene and ribavirin (RBV)-induced hemolytic anemia in HCV-infected patients receiving pegylated interferon (pegIFN) and RBV. 22585729 2012
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE These tag SNPs are in high linkage disequilibrium with 2 functional variants in the ITPA gene, rs1127354 and rs7270101, that cause ITPase deficiency and protect against ribavirin (RBV)-induced hemolytic anemia (HA). rs1127354 and rs7270101 showed strong independent associations with Pl reduction (p=10(-12), p=10(-7)) and entirely explained the genome-wide significant associations. 21703177 2012
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.400 GeneticVariation disease BEFREE Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes. 22158703 2012