{"orpha":308698,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["GBE deficiency, childhood neuromuscular form","GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form","GSD type 4, childhood neuromuscular form","GSDIV, childhood neuromuscular form","Glycogen storage disease type 4, childhood neuromuscular form","Glycogen storage disease type IV, childhood neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form","Glycogenosis type 4, childhood neuromuscular form","Glycogenosis type IV, childhood 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-308698/","orphanet_url":"https://www.orpha.net/en/disease/detail/308698","names":{"fr":{"name":"Glycogénose par déficit en enzyme branchante de l'enfant, forme neuromusculaire","synonyms":["GSD par déficit en enzyme branchante de l'enfant, forme neuromusculaire","GSD type 4 de l'enfant, forme neuromusculaire","GSDIV de l'enfant, forme neuromusculaire","Glycogénose type 4 de l'enfant, forme neuromusculaire","Glycogénose type IV de l'enfant, forme neuromusculaire"]},"de":{"name":"Glykogenose durch Glykogen-Branching-Enzym-Mangel, infantile neuromuskuläre Form","synonyms":["GBE-Mangel der Kindheit, neuromuskuläre Form","GSD Typ 4 der Kindheit, neuromuskuläre Form","GSD durch Glykogen-Branching-Enzym-Mangel der Kindheit, neuromuskuläre Form","GSDIV, neuromuskuläre Form der Kindheit","Glykogen-Speicherkrankheit Typ 4 der Kindheit, neuromuskuläre Form","Glykogen-Speicherkrankheit Typ IV, infantile neuromuskuläre Form","Glykogen-Speicherkrankheit durch Glykogen-Branching-Enzym-Mangel der Kindheit, neuromuskuläre Form","Glykogenose Typ 4, neuromuskuläre Form der Kindheit","Glykogenose Typ IV, neuromuskuläre Form der Kindheit"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular infantil","synonyms":["Deficiencia de GDE, forma neuromuscular infantil","Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular infantil","Enfermedad de almacenamiento de glucógeno tipo IV, forma neuromuscular infantil","GSD por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular infantil","GSD tipo 4, forma neuromuscular infantil","GSDIV, forma neuromuscular infantil","Glucogenosis por deficiencia de la enzima desramificante del glucógeno, forma neuromuscular infantil","Glucogenosis tipo 4, forma neuromuscular infantil","Glucogenosis tipo IV, forma neuromuscular infantil"]},"it":{"name":"Malattia da deposito di glicogeno dovuta al deficit dell'enzima ramificante del glicogeno, forma neuromuscolare infantile","synonyms":["Deficit di GBE, forma neuromuscolare infantile","GSD da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare infantile","GSD tipo 4, forma neuromuscolare infantile","GSDIV, forma neuromuscolare infantile","Glicogenosi da deficit dell'enzima ramificante del glicogeno, forma neuromuscolare infantile","Glicogenosi tipo 4, forma neuromuscolare infantile","Malattia da deposito di glicogeno tipo 4, forma neuromuscolare infantile"]},"nl":{"name":"Glycogeenstapelingsziekte door glycogeen branching-enzymdeficiëntie, neuromusculaire vorm in de kindertijd","synonyms":["GBE-deficiëntie, neuromusculaire vorm op kinderleeftijd","GSD door glycogeen branching-enzymdeficiëntie, neuromusculaire vorm op kinderleeftijd","GSD type 4, neuromusculaire vorm op kinderleeftijd","GSDIV, neuromusculaire vorm op kinderleeftijd","Glycogeenstapelingsziekte type 4, neuromusculaire vorm in de kindertijd","Glycogeenstapelingsziekte type IV, neuromusculaire vorm op kinderleeftijd","Glycogenose door glycogeen branching-enzymdeficiëntie, neuromusculaire vorm op kinderleeftijd","Glycogenose type 4, neuromusculaire vorm op kinderleeftijd","Glycogenose type IV, neuromusculaire vorm op kinderleeftijd"]},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de enzima desramificadora do glicogénio, forma neuromuscular da infância","synonyms":["Glicogenose por deficiência de enzima desramificadora do glicogénio, forma neuromuscular da infância"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru enzymu rozgałęziającego glikogen, postać nerwowo-mięśniowa o początku w wieku dziecięcym","synonyms":["Choroba spichrzania glikogenu typu 4, postać nerwowo-mięśniowa o początku w wieku dziecięcym","Glikogenoza typu 4, postać nerwowo-mięśniowa o początku w wieku dziecięcym","Glikogenoza z powodu niedoboru enzymu rozgałęziającego glikogen, postać nerwowo-mięśniowa o początku w wieku dziecięcym","GSD typu 4, postać nerwowo-mięśniowa o początku w wieku dziecięcym","GSD z powodu niedoboru enzymu rozgałęziającego glikogen, postać nerwowo-mięśniowa o początku w wieku dziecięcym","GSDIV, postać nerwowo-mięśniowa o początku w wieku dziecięcym","Niedobór GBE, postać nerwowo-mięśniowa o początku w wieku dziecięcym"]},"cs":{"name":"Glykogenóza způsobená deficitem glykogen větvícího enzymu, dětská neuromuskulární forma","synonyms":["GBE deficit, dětská neuromuskulární forma","GSD způsobená deficitem glykogen větvícího enzymu, dětská neuromuskulární forma","GSD typ 4, dětská neuromuskulární forma","GSDIV, dětská neuromuskulární forma","Glykogenóza, typ IV, dětská neuromuskulární forma","Glykogenóza, typ 4, dětská neuromuskulární forma"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розгалуження глікогену, дитяча нервово-мязова форма","synonyms":["Дефіцит GBE, дитяча нервово-мязова форма","Глікогенова хвороба 4 типу, дитяча нервово-мязова форма","Глікогенова хвороба IV типу, дитяча нервово-мязова форма","Глікогеноз внаслідок дефіциту ферменту розгалуження глікогену, дитяча нервово-мязова форма","Глікогеноз 4 типу, дитяча нервово-мязова форма","Глікогеноз IV типу, дитяча нервово-мязова форма","GSD внаслідок дефіциту ферменту розгалуження глікогену, дитяча нервово-мязова форма","GSD типу 4, дитяча нервово-мязова форма","GSDIV, дитяча нервово-мязова форма"]},"zh":{"name":"儿童神经肌肉型糖原分支酶缺乏致糖原贮积症","synonyms":["儿童神经肌肉型糖原分支酶缺乏致糖原贮积症"]},"tr":{"name":"Glikojen dallanan enzim eksikliğine bağlı glikojen depo hastalığı, çocukluk çağı nöromüsküler formu","synonyms":["GSD tip 4, çocukluk çağı nöromüsküler formu","GBE eksikliği, çocukluk çağı nöromüsküler formu","Glikojenoz tip 4, çocukluk çağı nöromüsküler formu","Glikojenoz tip IV, çocukluk çağı nöromüsküler formu","Glikojen depo hastalığı tip 4, çocukluk çağı nöromüsküler formu","Glikojen depo hastalığı tip IV, çocukluk çağı nöromüsküler formu","Glikojen dallanma enzim eksikliğine bağlı GSD, çocukluk çağı nöromüsküler formu","Glikojen dallanan enzim eksikliğine bağlı glikojenoz, çocukluk çağı nöromüsküler formu","GSDIV, çocukluk çağı nöromüsküler formu"]}},"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":"0017700","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565543","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856305","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}