{"orpha":308473,"name":"Erythrocyte galactose epimerase deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Erythrocyte GALE deficiency","Erythrocyte GALE-D","Erythrocyte UDP-galactose-4-epimerase deficiency","Erythrocyte epimerase deficiency galactosemia","Erythrocyte uridine diphosphate galactose-4-epimerase deficiency"],"definition":null,"note":"This disease is described under Galactose epimerase deficiency","url":"https://raremap.alftech.space/d/ORPHA-308473/","orphanet_url":"https://www.orpha.net/en/disease/detail/308473","names":{"fr":{"name":"Déficit érythrocytaire en galactose épimérase","synonyms":["Déficit érythrocytaire en GALE","Déficit érythrocytaire en UDP-galactose-4-épimérase","Déficit érythrocytaire en uridine diphosphate-galactose-4-épimérase","GALE-D érythrocytaire"]},"de":{"name":"Galaktose-Epimerase-Mangel der Erythrozyten","synonyms":["GALE, erythrozytärer","GALE-D, erythrozytärer","UDP-Galaktose-4-Epimerase-Mangel der Erythrozyten","Uridin-Diphosphat-Galaktose-4-Epimerase-Mangel"]},"es":{"name":"Deficiencia eritrocitaria de galactosa epimerasa","synonyms":["Deficiencia eritrocitaria de GALE","Deficiencia eritrocitaria de UDP-galactosa 4-epimerasa","Deficiencia eritrocitaria de uridina difosfato galactosa-4-epimerasa","GALE-D eritrocitaria","Galactosemia por deficiencia de epimerasa eritrocitaria"]},"it":{"name":"Deficit di galattosio epimerasi negli eritrociti","synonyms":["Deficit di GALE negli eritrociti","Deficit di UDP-galattosio-4-epimerasi negli eritrociti","Deficit di uridina difosfato galattosio-4-epimerasi negli eritrociti","GALE-D negli eritrociti","Galattosemia da deficit di epimerasi negli eritrociti"]},"nl":{"name":"Erytrocyt galactose-epimerasedeficiëntie","synonyms":["Erytrocyt GALE-D","Erytrocyt GALE-deficiëntie","Erytrocyt UDP-galactose-4-epimerasedeficiëntie","Erytrocyt uridinedifosfaatgalactose-4-epimerasedeficiëntie","Galactosemie door erytrocyt epimerase-deficiëntie"]},"pt":{"name":"Défice de galactose epimerase eritrocitária"},"pl":{"name":"Niedobór epimerazy galaktozy czerwonokrwinkowej","synonyms":["Galaktozemia z powodu niedoboru epimerazy czerwonokrwinkowej","GALE-D czerwonokrwinkowa","Niedobór difosforanu urydyny galaktozo-4-epimerazy czerwonokrwinkowej","Niedobór GALE czerwonokrwinkowej","Niedobór UDP-galaktozo-4-epimerazy czerwonokrwinkowej"]},"cs":{"name":"Deficit UDP-galaktóza-4-epimerázy v erytrocytech","synonyms":["Deficit GALE v erytrocytech","GALE-D v erytrocytech","Galaktosémie s deficitem uridindifosfát-galaktóza-4-epimerázy","Deficit uridindifosfát-galaktóza-4-epimerázy v erytrocytech"]},"uk":{"name":"Дефіцит галактозоепімерази еритроцитів","synonyms":["Еритроцитарна галактоземія з дефіцитом епімерази еритроцитів","Дефіцит еритроцитарного GALE","Еритроцитарний GALE-D","Дефіцит еритроцитарної УДФ-галактозо-4-епімерази","Дефіцит еритроцитарної уридиндифосфат-галактозо-4-епімерази"]},"zh":{"name":"红细胞半乳糖异构酶缺乏症","synonyms":["红细胞尿苷二磷酸半乳糖4异构酶缺乏症"]},"tr":{"name":"Eritrosit galaktoz epimeraz eksikliği","synonyms":["Eritrosit GALE-D","Eritrosit GALE eksikliği","Eritrosit epimeraz eksikliği olan galaktozemi","Eritrosit UDP-galaktoz-4-epimeraz eksikliği","Eritrosit 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":"690850939"},{"source":"MONDO","code":"0017691","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574090","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}