IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10
Disease: Maffucci Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE Maffucci syndrome is a rare genetic disease due to somatic mutation of IDH1 gene. 30977938 2019
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. 29339836 2018
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE This is the first report demonstrating an IDH1 mutation shared among three different CNS tumors in a single patient with MS. 30579273 2018
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia. 28544751 2017
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. 28845532 2017
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome. 26473790 2016
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 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: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE These results suggest that the multiple somatic mutations of the IDH1 and NPM1 genes in hemangioblasts are related to the development of cup-like AML associated with Maffucci syndrome. 26508204 2015
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE Somatic mosaic IDH1/2 mutations are also reported in Ollier disease and Maffucci syndrome, which are characterized by multiple central cartilaginous tumors. 24403254 2013
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 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: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 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: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 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: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 SomaticCausalMutation disease ORPHANET Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 GeneticVariation disease BEFREE Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 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: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 Biomarker disease CTD_human Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 22057236 2011
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND