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

N. diseases: 399; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 GeneticVariation disease BEFREE Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (NPM1) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the IDH1 gene. 26508204 2015
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 GeneticVariation disease BEFREE R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. 23485734 2013
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 GeneticVariation disease BEFREE We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 GeneticVariation disease BEFREE A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. 28544751 2017
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 GeneticVariation disease BEFREE None of the known pathogenic mutations in the whole IDH1 or IDH2 genes was found in the patient's hemangioma sample. 26123062 2015
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 Biomarker disease BEFREE Mutation analyses including Sanger sequencing of genes involving in enchondromatosis and the metabolic pathway of D-2-hydroxyglutarate including PTHR1, D2HGDH, HOT, and IDH1, as well as whole-exome sequencing for proband-parent trio analysis and paired blood versus hemangioma studies showed no pathogenic variants. 29744569 2018
CUI: C0018916
Disease: Hemangioma
Hemangioma
0.360 Biomarker disease CTD_human We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). 22057234 2011