{"orpha":367,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Amylopectinosis","Andersen disease","GSD due to glycogen branching enzyme deficiency","GSD type 4","GSD type IV","Glycogen storage disease type 4","Glycogen storage disease type IV","Glycogenosis due to glycogen branching enzyme deficiency","Glycogenosis type 4","Glycogenosis type IV"],"definition":"A rare form of glycogen storage disease characterized by a continuum of clinical manifestations of variable presentation and severity, involving hepatic, neuromuscular and/or cardiac symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-367/","orphanet_url":"https://www.orpha.net/en/disease/detail/367","names":{"fr":{"name":"Glycogénose par déficit en enzyme branchante","synonyms":["Amylopectinose","GSD par déficit en enzyme branchante","GSD type 4","GSD type IV","Glycogénose type 4","Glycogénose type IV","Maladie d'Andersen"],"definition":"Forme rare de glycogénose caractérisée par un continuum de signes cliniques hétérogènes et de gravité variable, touchant les systèmes hépatique, neuromusculaire et/ou cardiaque."},"de":{"name":"Glykogenose Typ 4","synonyms":["Amylopektinose","Andersen-Glykogenose","GSD Typ 4","GSD Typ IV","GSD durch Glykogen-Branching-Enzym-Mangel","Glykogen-Speicherkrankheit Typ 4","Glykogen-Speicherkrankheit Typ IV","Glykogen-Speicherkrankheit durch Glykogen-Branching-Enzym-Mangel","Glykogenose Typ IV","Glykogenose durch Glykogen-Branching-Enzym-Mangel"],"definition":"Eine seltene Form der Glykogenspeicherkrankheit, die durch ein Kontinuum klinischer Manifestationen mit unterschiedlicher Ausprägung und Schweregrad gekennzeichnet ist und hepatische, neuromuskuläre und/oder kardiale Symptome umfasst."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de enzima ramificante del glucógeno","synonyms":["Amilopectinosis","Enfermedad de Andersen","Enfermedad de almacenamiento de glucógeno tipo 4","Enfermedad de almacenamiento de glucógeno tipo IV","GSD por deficiencia de enzima ramificante del glucógeno","GSD tipo 4","GSD tipo IV","Glucogenosis por deficiencia de enzima ramificante del glucógeno","Glucogenosis tipo 4","Glucogenosis tipo IV"],"definition":"Es una forma poco frecuente de enfermedad por almacenamiento de glucógeno caracterizada por un continuo de manifestaciones clínicas de presentación y gravedad variables, que incluyen síntomas hepáticos, neuromusculares y/o cardíacos."},"it":{"name":"Malattia da deposito di glicogeno da deficit dell'enzima ramificante il glicogeno","synonyms":["Amilopectinosi","GSD da deficit dell'enzima ramificante il glicogeno","GSD, tipo 4","Glicogenosi da deficit dell'enzima ramificante il glicogeno","Glicogenosi, tipo 4","Malattia da deposito di glicogeno, tipo 4","Malattia di Andersen"],"definition":"Il deficit dell'enzima ramificante (malattia di Andersen o amilopectinosi) o glicogenosi tipo 4 (GSD4) è una malattia rara e grave da deposito di glicogeno e rappresenta il 3% circa di tutte le glicogenosi (si vedano questi termini)."},"nl":{"name":"Glycogeenstapelingsziekte door glycogeen branching-enzymdeficiëntie","synonyms":["Amylopectinose","GSD door glycogeen branching-enzymdeficiëntie","GSD type 4","GSD type IV","Glycogeenstapelingsziekte type 4","Glycogeenstapelingsziekte type IV","Glycogenose door glycogeen branching-enzymdeficiëntie","Glycogenose type 4","Glycogenose type IV","Ziekte van Andersen"],"definition":"Een zeldzame vorm van glycogeenstapelingsziekte, gekenmerkt door een continuüm van klinische manifestaties met variabele presentatie en ernst, en met hepatische, neuromusculaire en/of cardiale symptomen."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência na ramificação do glicogénio","synonyms":["Amilopectinose","Deficiência na ramificação do glicogénio","Doença de Andersen","Doença de armazenamento de glicogénio tipo 4","Glicogenose tipo 4"],"definition":"A deficiência de enzima ramificadora de glicogénio (GBE) (doença de Andersen ou amilopectinose), ou doença de armazenamento de glicogénio tipo 4 (GSD4), é uma forma rara e grave de doença de armazenamento de glicogénio, que é responsável por aproximadamente 3% de todas as doenças de armazenamento de glicogénio (ver estes termos)."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem enzymu rozgałęziającego","synonyms":["Amylopektynoza","Choroba Andersen","Choroba spichrzania glikogenu typu 4","Glikogenoza spowodowana niedoborem enzymu rozgałęziającego","Glikogenoza typu 4","GSD spowodowana niedoborem enzymu rozgałęziającego","GSD typu 4"],"definition":"Niedobór enzymu rozgałęziającego glikogen (choroba Andersena lub amylopektynoza) lub choroba spichrzania glikogenu typu 4 (GSD4) to rzadka i ciężka postać glikogenozy, która stanowi około 3% wszystkich schorzeń z tej grupy (sprawdź te terminy)."},"cs":{"name":"Glykogenóza způsobená deficitem glykogen větvícího enzymu","synonyms":["Amylopektinóza","Andersenova nemoc","GSD typ 4","GSD IV","Glykogenóza, typ 4","Glykogenóza, typ IV","GSD způsobená deficitem glykogen větvícího enzymu"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом ферменту розгалуження глікогену","synonyms":["Амілопектиноз","Хвороба Андерсена","Глікогенова хвороба 4-го типу","Глікогенова хвороба IV типу","Глікогеноз внаслідок дефіциту ферменту розгалуження глікогену","Глікогеноз 4 типу","Глікогеноз IV типу","GSD внаслідок дефіциту ферменту розгалуження глікогену","GSD тип 4","GSD тип IV"],"definition":"Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases (see these terms)."},"zh":{"name":"糖原分支酶缺乏所致糖原贮积病","synonyms":["糖原分支酶缺乏所致糖原贮积病"]},"tr":{"name":"Glikojeni dallandıran enzim eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 4","GSD tip IV","Amilopektinoz","Andersen hastalığı","Glikojenoz tip 4","Glikojenoz tip IV","Glikojen depo hastalığı tip 4","Glikojen depo hastalığı tip IV","Glikojen dallanma enzim eksikliğine bağlı GSD","Glikojen dallanma enzim eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"263570","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"36127628"},{"source":"MONDO","code":"0009292","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006011","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017923","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2520","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053249","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217607,"name":"Familial dilated cardiomyopathy","classifications":[146,156]},{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[233]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[{"orpha":206583,"name":"Adult polyglucosan body disease","type":"Clinical subtype"},{"orpha":308712,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","type":"Clinical subtype"},{"orpha":308684,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","type":"Clinical subtype"},{"orpha":308698,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","type":"Clinical subtype"},{"orpha":308670,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","type":"Clinical subtype"},{"orpha":308655,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","type":"Clinical subtype"},{"orpha":308638,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","type":"Clinical subtype"},{"orpha":308621,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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":"10762170[PMID]","hgnc":"4180","ensembl":"ENSG00000114480","omim":"607839","loci":["3p12.2"],"via":{"orpha":206583,"name":"Adult polyglucosan body disease"}},{"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"],"via":{"orpha":308621,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"}},{"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"],"via":{"orpha":308638,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"}},{"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"],"via":{"orpha":308655,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"}},{"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"],"via":{"orpha":308670,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"}},{"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"],"via":{"orpha":308684,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"}},{"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"],"via":{"orpha":308698,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"}},{"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"],"via":{"orpha":308712,"name":"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Not yet validated","source":"23285490[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-05","source":"30228975[PMID]_23285490[PMID]_31363843[PMID]","terms":[{"hpo":"HP:0031331","label":"Abnormal cardiomyocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012269","label":"Abnormal muscle glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500032","label":"Abnormal neuron branching","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001989","label":"Fetal akinesia sequence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}