{"orpha":308670,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GBE deficiency, congenital neuromuscular form","GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form","GSD type 4, congenital neuromuscular form","GSDIV, congenital neuromuscular form","Glycogen storage disease type 4, congenital neuromuscular form","Glycogen storage disease type IV, congenital neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form","Glycogenosis type 4, congenital neuromuscular form","Glycogenosis type IV, congenital neuromuscular form"],"definition":null,"note":"This disease is described under Glycogen storage disease due to glycogen branching enzyme deficiency","url":"https://raremap.alftech.space/d/ORPHA-308670/","orphanet_url":"https://www.orpha.net/en/disease/detail/308670","names":{"fr":{"name":"Glycogénose par déficit en enzyme branchante, forme neuromusculaire congénitale","synonyms":["GSD par déficit en enzyme branchante, forme neuromusculaire congénitale","GSD type 4, forme neuromusculaire congénitale","GSDIV, forme neuromusculaire congénitale","Glycogénose type 4, forme neuromusculaire congénitale","Glycogénose type IV, forme neuromusculaire congénitale"]},"de":{"name":"Glykogenose durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form","synonyms":["GBE-Mangel, kongenitaler, neuromuskuläre Form","GSD Typ 4, kongenitale neuromuskuläre Form","GSD durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form","GSDIV, kongenitale neuromuskuläre Form","Glykogen-Speicherkrankheit IV, kongenitale neuromuskuläre Form","Glykogen-Speicherkrankheit Typ 4, kongenitale, neuromuskuläre Form","Glykogen-Speicherkrankheit durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form","Glykogenose Typ 4, kongenitale, neuromuskuläre Form","Glykogenose Typ IV, kongenitale, neuromuskuläre Form"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular congénita","synonyms":["GSD tipo 4, forma neuromuscular congénita","GSDIV, forma neuromuscular congénita","Glucogenosis por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular congénita","Glucogenosis tipo 4, forma neuromuscular congénita","Glucogenosis tipo IV, forma neuromuscular congénita","Deficiencia de GDE, forma neuromuscular congénita","Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular congénita","Enfermedad de almacenamiento de glucógeno tipo IV, forma neuromuscular congénita","GSD por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular congénita"]},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit dell'enzima ramificante del glicogeno, forma neuromuscolare congenita","synonyms":["Deficit di GBE, forma neuromuscolare congenita","GSD da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare congenita","GSD tipo 4, forma neuromuscolare congenita","GSDIV, forma neuromuscolare congenita","Glicogenosi da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare congenita","Glicogenosi tipo 4, forma neuromuscolare congenita","Malattia da deposito di glicogeno tipo 4, forma neuromuscolare congenita"]},"nl":{"name":"Glycogeenstapelingsziekte door glycogeen branching-enzymdeficiëntie, congenitale neuromusculaire vorm","synonyms":["GBE-deficiëntie, congenitale neuromusculaire vorm","GSD door glycogeen branching-enzymdeficiëntie, congenitale neuromusculaire vorm","GSD type 4, congenitale neuromusculaire vorm","GSDIV, congenitale neuromusculaire vorm","Glycogeenstapelingsziekte type 4, congenitale neuromusculaire vorm","Glycogeenstapelingsziekte type IV, congenitale neuromusculaire vorm","Glycogenose door glycogeen branching-enzymdeficiëntie, congenitale neuromusculaire vorm","Glycogenose type 4, congenitale neuromusculaire vorm","Glycogenose type IV, congenitale neuromusculaire vorm"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de enzima desramificadora do glicogénio, forma neuromuscular congénita","synonyms":["Glicogenose por deficiência de enzima desramificadora do glicogénio, forma neuromuscular congénita"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru enzymu rozgałęziającego glikogen, postać wrodzona nerwowo-mięśniowa","synonyms":["Choroba spichrzania glikogenu typu 4, postać wrodzona nerwowo-mięśniowa","Glikogenoza typu 4, postać wrodzona nerwowo-mięśniowa","Glikogenoza z powodu niedoboru enzymu rozgałęziającego glikogen, postać wrodzona nerwowo-mięśniowa","GSD typu 4, postać wrodzona nerwowo-mięśniowa","GSD z powodu niedoboru enzymu rozgałęziającego glikogen, postać wrodzona nerwowo-mięśniowa","GSDIV, postać wrodzona nerwowo-mięśniowa","Niedobór GBE, postać wrodzona nerwowo-mięśniowa"]},"cs":{"name":"Glykogenóza způsobená deficitem glykogen větvícího enzymu, vrozená neuromuskulární forma","synonyms":["GBE deficit, vrozená neuromuskulární forma","GSD typ 4, vrozená neuromuskulární forma","GSDIV, vrozená neuromuskulární forma","Glykogenóza, typ IV, vrozená neuromuskulární forma","Glykogenóza, typ 4, vrozená neuromuskulární forma","GSD způsobená deficitem glykogen větvícího enzymu, vrozená neuromuskulární forma"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розгалуження глікогену, вроджена нервово-мязова форма","synonyms":["Дефіцит GBE, вроджена нервово-мязова форма","Хвороба накопичення глікогену 4 типу, вроджена нервово-мязова форма","Хвороба накопичення глікогену IV типу, вроджена нервово-мязова форма","Глікогеноз внаслідок дефіциту ферменту розгалуження глікогену, вроджена нервово-мязова форма","Глікогеноз 4 типу, вроджена нервово-мязова форма","Глікогеноз IV типу, вроджена нервово-мязова форма","GSD внаслідок дефіциту ферменту розгалуження глікогену, вроджена нервово-мязова форма","GSD типу 4, вроджена нервово-мязова форма","GSDIV, вроджена нервово-мязова форма"]},"zh":{"name":"先天性神经肌肉型糖原分支酶缺乏致糖原贮积症","synonyms":["先天性神经肌肉型GSDIV"]},"tr":{"name":"Glikojen dallanan enzim eksikliğine bağlı glikojen depo hastalığı, doğumsal nöromüsküler form","synonyms":["GSD tip 4, doğumsal nöromüsküler form","GBE eksikliği, doğumsal nöromüsküler form","Glikojenoz tip 4, doğumsal nöromüsküler form","Glikojenoz tip IV, doğumsal nöromüsküler form","Glikojen depo hastalığı tip 4, doğumsal nöromüsküler form","Glikojen depo hastalığı tip IV, doğumsal nöromüsküler form","Glikojen dallanma enzim eksikliğine bağlı GSD, doğumsal nöromüsküler form","Glikojen dallanma enzim eksikliğine bağlı glikojenoz, doğumsal nöromüsküler form","GSDIV, doğumsal nöromüsküler form"]}},"xrefs":[{"source":"OMIM","code":"232500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017698","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565542","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856304","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":367,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency","classifications":[146,150,156,181,183,233]}],"children":[],"genes":[{"symbol":"GBE1","name":"1,4-alpha-glucan branching enzyme 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4180","ensembl":"ENSG00000114480","omim":"607839","loci":["3p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}