{"orpha":308487,"name":"Generalized galactose epimerase deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Generalized GALE deficiency","Generalized GALE-D","Generalized UDP-galactose-4-epimerase deficiency","Generalized epimerase deficiency galactosemia","Generalized uridine diphosphate galactose-4-epimerase deficiency"],"definition":null,"note":"This disease is described under Galactose epimerase deficiency","url":"https://raremap.alftech.space/d/ORPHA-308487/","orphanet_url":"https://www.orpha.net/en/disease/detail/308487","names":{"fr":{"name":"Déficit généralisé en galactose épimérase","synonyms":["Déficit généralisé en GALE","Déficit généralisé en UDP-galactose-4-épimérase","Déficit généralisé en uridine diphosphate-galactose-4-épimérase","GALE-D généralisé"]},"de":{"name":"Galaktose-Epimerase-Mangel, generalisierter","synonyms":["GALE, generalisiert","GALE-D, generalisiert","UDP-Galaktose-4-Epimerase-Mangel, generalisierter","Uridin-Diphosphat-Galaktose-4-Epimerase-Mangel, generalisierter"]},"es":{"name":"Deficiencia generalizada de galactosa epimerasa","synonyms":["Deficiencia de uridina difosfato galactosa-4-epimerasa generalizada","Deficiencia generalizada de GALE","Deficiencia generalizada de UDP-galactosa 4-epimerasa","GALE-D generalizado"]},"it":{"name":"Deficit generalizzato di galattosio epimerasi","synonyms":["GALE-D generalizzato","Galattosemia da deficit generalizzato di epimerasi","Deficit generalizzato di GALE","Deficit generalizzato di UDP-galattosio-4-epimerasi","Deficit generalizzato di uridina disfofato galattosio-4-epimerasi"]},"nl":{"name":"Gegeneraliseerde galactose-epimerasedeficiëntie","synonyms":["Gegeneraliseerde GALE-D","Gegeneraliseerde GALE-deficiëntie","Gegeneraliseerde UDP-galactose-4-epimerasedeficiëntie","Gegeneraliseerde epimerasedeficiëntiegalactosemie","Gegeneraliseerde uridinedifosfaatgalactose-4-epimerasedeficiëntie"]},"pt":{"name":"Défice generalizado de galactose epimerase"},"pl":{"name":"Uogólniony Niedobór epimerazy galaktozy","synonyms":["Galaktozemia z powodu uogólnionego niedoboru epimerazy","Uogólniony GALE-D","Uogólniony Niedobór diforforanu urydyny galaktozo-4-epimerazy","Uogólniony Niedobór GALE","Uogólniony Niedobór UDP-galaktozo-4-epimerazy"]},"cs":{"name":"Generalizovaný deficit UDP-galaktóza-4-epimerázy","synonyms":["Generalizovaný deficit GALE","Generalizovaný GALE-D","Galaktosémie s generalizovaným deficitem uridindifosfát-galaktóza-4-epimerázy","Generalizovaný deficit uridindifosfát-galaktóza-4-epimerázy"]},"uk":{"name":"Генералізована недостатність галактозоепімерази","synonyms":["Генералізована епімеразодефіцитна галактоземія","Генералізований дефіцит GALE","Генералізована GALE-D","Генералізована недостатність УДФ-галактозо-4-епімерази","Генералізований дефіцит уридиндифосфат-галактозо-4-епімерази"]},"zh":{"name":"全谱半乳糖异构酶缺乏症","synonyms":["尿苷二磷酸半乳糖4异构酶完全缺乏症"]},"tr":{"name":"Jeneralize galaktoz epimeraz eksikliği","synonyms":["Jeneralize GALE-D","Jeneralize GALE eksikliği","Jeneralize epimeraz eksikliği olan galaktozemi","Jeneralize UDP-galaktoz-4-epimeraz eksikliği","Jeneralize üridin difosfat galaktoz-4-epimeraz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"230350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1199143704"},{"source":"MONDO","code":"0017692","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79238,"name":"Galactose epimerase deficiency","classifications":[150,156,183,188,189]}],"children":[],"genes":[{"symbol":"GALE","name":"UDP-galactose-4-epimerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4116","ensembl":"ENSG00000117308","omim":"606953","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}