{"orpha":308655,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GBE deficiency, fatal perinatal neuromuscular form","GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","GSD type 4, fatal perinatal neuromuscular form","GSDIV, fatal perinatal neuromuscular form","Glycogen storage disease type 4, fatal perinatal neuromuscular form","Glycogen storage disease type IV, fatal perinatal neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","Glycogenosis type 4, fatal perinatal neuromuscular form","Glycogenosis type IV, fatal perinatal 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-308655/","orphanet_url":"https://www.orpha.net/en/disease/detail/308655","names":{"fr":{"name":"Glycogénose par déficit en enzyme branchante, forme neuromusculaire périnatale fatale","synonyms":["GSDIV, forme neuromusculaire périnatale fatale","Glycogénose type 4, forme neuromusculaire périnatale fatale","Glycogénose type IV, forme neuromusculaire périnatale fatale","GSD par déficit en enzyme branchante, forme neuromusculaire périnatale fatale","GSD type 4, forme neuromusculaire périnatale fatale"]},"de":{"name":"Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form","synonyms":["GBE Mangel, fatale perinatale neuromuskuläre Form","GSD Typ 4, fatale perinatale neuromuskuläre Form","GSD durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form","GSDIV, fatale perinatale neuromuskuläre Form","Glykogen-Speicherkrankheit IV, fatale perinatale neuromuskuläre Form","Glykogen-Speicherkrankheit Typ 4, fatale perinatale neuromuskuläre Form","Glykogen-Speicherkrankheit durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form","Glykogenose Typ 4, fatale perinatale neuromuskuläre Form","Glykogenose Typ IV, fatale perinatale neuromuskuläre Form"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de enzima desramificante, forma neuromuscular perinatal letal","synonyms":["Deficiencia de GDE, forma neuromuscular perinatal letal","Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular perinatal letal","Enfermedad de almacenamiento de glucógeno tipo IV, forma neuromuscular perinatal letal","GSD por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular perinatal letal","GSD tipo 4, forma neuromuscular perinatal letal","GSDIV, forma neuromuscular perinatal letal","Glucogenosis por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular perinatal letal","Glucogenosis tipo 4, forma neuromuscular perinatal letal","Glucogenosis tipo IV, forma neuromuscular perinatal letal"]},"it":{"name":"Malattia da deposito di glicogeno da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare perinatale fatale"},"nl":{"name":"Glycogeenstapelingsziekte door glycogeen branching-enzymdeficiëntie, fatale perinatale neuromusculaire vorm","synonyms":["GBE-deficiëntie, fatale perinatale neuromusculaire vorm","GSD door glycogeen branching-enzymdeficiëntie, fatale perinatale neuromusculaire vorm","GSD type 4, fatale perinatale neuromusculaire vorm","GSDIV, fatale perinatale neuromusculaire vorm","Glycogeenstapelingsziekte type 4, fatale perinatale neuromusculaire vorm","Glycogeenstapelingsziekte type IV, fatale perinatale neuromusculaire vorm","Glycogenose door glycogeen branching-enzymdeficiëntie, fatale perinatale neuromusculaire vorm","Glycogenose type 4, fatale perinatale neuromusculaire vorm","Glycogenose type IV, fatale perinatale neuromusculaire vorm"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de enzima desramificadora do glicogénio, forma neuromuscular perinatal letal","synonyms":["Glicogenose por deficiência de enzima desramificadora do glicogénio, forma neuromuscular perinatal"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru enzymu rozgałęziającego glikogen, śmiertelna postać prenatalna nerwowo-mięśniowa","synonyms":["Choroba spichrzania glikogenu typu 4, śmiertelna postać prenatalna nerwowo-mięśniowa","Glikogenoza typu 4, śmiertelna postać prenatalna nerwowo-mięśniowa","Glikogenoza z powodu niedoboru enzymu rozgałęziającego glikogen, śmiertelna postać prenatalna nerwowo-mięśniowa","GSD typu 4, śmiertelna postać prenatalna nerwowo-mięśniowa","GSD z powodu niedoboru enzymu rozgałęziającego glikogen,śmiertelna postać prenatalna nerwowo-mięśniowa","GSDIV, śmiertelna postać prenatalna nerwowo-mięśniowa","Niedobór GBE, śmiertelna postać prenatalna nerwowo-mięśniowa"]},"cs":{"name":"Glykogenóza způsobená deficitem glykogen větvícího enzymu, fatální perinatální neuromuskulární forma","synonyms":["GBE deficit, fatální perinatální neuromuskulární forma","GSD typ 4, fatální perinatální neuromuskulární forma","GSDIV, fatální perinatální neuromuskulární forma","Glykogenóza, typ IV, fatální perinatální neuromuskulární forma","Glykogenóza, typ 4, fatální perinatální neuromuskulární forma","GSD způsobená deficitem glykogen větvícího enzymu, fatální perinatální neuromuskulární forma"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розгалуження глікогену, летальна перинатальна нервово-мязова форма","synonyms":["Дефіцит GBE, смертельна перинатальна нервово-мязова форма","Глікогенова хвороба 4-го типу, фатальна перинатальна нервово-мязова форма","Глікогенова хвороба IV типу, летальна перинатальна нервово-мязова форма","Глікогеноз внаслідок дефіциту ферменту розгалуження глікогену, летальна перинатальна нервово-мязова форма","Глікогеноз 4 типу, фатальна перинатальна нервово-мязова форма","Глікогеноз IV типу, фатальна перинатальна нервово-мязова форма","GSD внаслідок дефіциту ферменту розгалуження глікогену, смертельна перинатальна нервово-мязова форма","GSD типу 4, фатальна перинатальна нервово-мязова форма","GSDIV, смертельна перинатальна нервово-мязова форма"]},"zh":{"name":"围产期致命性神经肌肉型糖原分支酶缺乏致糖原贮积症","synonyms":["围产期致命性神经肌肉型糖原分支酶缺乏所致糖原贮积症"]},"tr":{"name":"Glikojen dallanan enzim eksikliğine bağlı glikojen depo hastalığı, letal perinatal nöromüsküler form","synonyms":["GSDIV, fatal perinatal nöromüsküler form","GSD tip 4, fatal perinatal nöromüsküler form","GBE eksikliği, fatal perinatal nöromüsküler form","Glikojenoz tip 4, fatal perinatal nöromüsküler form","Glikojenoz tip IV, fatal perinatal nöromüsküler form","Glikojen depo hastalığı tip 4, fatal perinatal nöromüsküler form","Glikojen depo hastalığı tip IV, fatal perinatal nöromüsküler form","Glikojen dallanma enzim eksikliğine bağlı GSD, fatal perinatal nöromüsküler form","Glikojen dallanma enzim eksikliğine bağlı glikojenoz, fatal perinatal 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":"0017697","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565541","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856303","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}