IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 GeneticVariation disease BEFREE IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis. 31240473 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease BEFREE Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. 30159860 2018
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. 27036230 2016
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease BEFREE Mutant IDH is sufficient to initiate enchondromatosis in mice. 25730874 2015
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease BEFREE Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas. 26046462 2015
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 GeneticVariation disease BEFREE Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively. 23801749 2013
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease CTD_human In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease CTD_human Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease GENOMICS_ENGLAND In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 SomaticCausalMutation disease ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 SomaticCausalMutation disease ORPHANET In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease GENOMICS_ENGLAND Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 GeneticVariation disease BEFREE In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. 22057234 2011
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
0.770 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE The difference in IDH2 mRNA expression levels and OS between the IDH2 R140Q-mutated and wild-type AML were not statistically significant in our cohort. 30896832 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE Three mutation-specific targeted therapies have recently been approved by the FDA for the treatment of acute myeloid leukemia (AML): midostaurin for FLT3 mutations, enasidenib for relapsed or refractory cases with IDH2 mutations, and ivosidenib for cases with an IDH1 mutation. 30728456 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 Biomarker disease BEFREE These drugs are identified as high potential IDH2 inhibitors and can halt AML when validated 31450897 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE Acute myeloid leukemia with isolated del(5q) was less likely therapy-related (p = 0.037), more likely to have IDH1/IDH2 mutations (p = 0.009), and less likely to have TP53 mutations (p = 0.005) when compared to acute myeloid leukemia with complex karyotype including del(5q). 31685963 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 Biomarker disease BEFREE The therapeutic landscape is rapidly changing, with eight new drugs approved by the Food and Drug Administration within the last 2 years, including midostaurin and gilteritinib for FLT3 mutant newly diagnosed and relapsed/refractory (R/R) acute myeloid leukemia (AML), respectively; CPX-351 (liposomal cytarabine and daunorubicin) for therapy-related AML and AML with myelodysplasia-related changes; gemtuzumab ozogamicin (anti-CD33 monoclonal antibody conjugated with calicheamicin) for newly diagnosed and R/R CD33-positive AML; enasidenib and ivosidenib for IDH2 and IDH1 mutant R/R AML, respectively. 30861214 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 AlteredExpression disease BEFREE In recent phase I and II trials, the IDH2 inhibitor enasidenib has shown clinical activity in patients with relapsed and refractory (R/R) AML. 31564968 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE Although the first reports have also already emerged describing acquired resistance for these mutant IDH inhibitors, combination treatment might overcome this problem, which could drastically change the treatment landscape of AML over the next few years. 30643428 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE Among 39 patients with newly diagnosed mutant-IDH2 AML who received enasidenib monotherapy in this phase I/II trial, median age was 77 years (range 58-87) and 23 patients (59%) had had an antecedent hematologic disorder. 30967620 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE Acute myeloid leukemia (AML) cells harboring mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) produce the oncometabolite 2-hydroxyglutarate (2HG). 30422308 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 GeneticVariation disease BEFREE The analysis of these mutations in AML patients is of great importance as a prognostic factor due to their impact on survival and their use as potential therapeutic targets or as targets of inhibitors of IDH1(Ivosidenib, Tibsovo) and IDH2 (Enasidenib, Idhifa). 31632056 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 Biomarker disease BEFREE The various findings of enasidenib revealed that it has been designed to allosterically inhibit mutated IDH2 to treat R/R AML patients. 30360730 2018