{"orpha":368,"name":"Glycogen storage disease due to muscle glycogen phosphorylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to muscle glycogen phosphorylase deficiency","GSD type 5","GSD type V","Glycogen storage disease type 5","Glycogen storage disease type V","Glycogenosis due to muscle glycogen phosphorylase deficiency","Glycogenosis type 5","Glycogenosis type V","McArdle disease","Myophosphorylase deficiency"],"definition":"A form of glycogen storage disease (GSD) characterized by exercise intolerance and rhabdomyolysis episodes, due to a deficiency of the muscle isoform of glycogen phosphorylase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-368/","orphanet_url":"https://www.orpha.net/en/disease/detail/368","names":{"fr":{"name":"Glycogénose par déficit en glycogène phosphorylase musculaire","synonyms":["Déficit en myophosphorylase","GSD par déficit en glycogène phosphorylase musculaire","GSD type 5","GSD type V","Glycogénose type 5","Glycogénose type V","Maladie de McArdle"],"definition":"Forme de glycogénose (GSD) caractérisée par une intolérance à l'effort et par des épisodes de rhabdomyolyse, résultant d'un déficit en isoforme musculaire de la glycogène phosphorylase."},"de":{"name":"Glykogenose Typ 5","synonyms":["GSD Typ 5","GSD Typ V","GSD durch Myophosphorylase-Mangel","Glykogen-Speicherkrankheit Typ 5","Glykogen-Speicherkrankheit Typ V","Glykogen-Speicherkrankheit durch Myophosphorylase-Mangel","Glykogenose Typ V","Glykogenose durch muskulären Glykogen-Phosphorylase-Mangel","McArdle-Krankheit","Myophosphorylase-Mangel"],"definition":"Eine Form der Glykogenspeicherkrankheit (GSD) mit Belastungsintoleranz und Rhabdomyolyse-Episoden aufgrund eines Mangels der muskulären Isoform des Enzyms Glykogenphosphorylase (Myophosphorylase)."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno fosforilasa muscular","synonyms":["Deficiencia de miofosforilasa","Enfermedad de McArdle","Enfermedad de almacenamiento de glucógeno tipo 5","Enfermedad de almacenamiento de glucógeno tipo V","GSD por deficiencia de glucógeno fosforilasa muscular","GSD tipo 5","GSD tipo V","Glucogenosis por deficiencia de glucógeno fosforilasa muscular","Glucogenosis tipo 5","Glucogenosis tipo V"],"definition":"Es una forma de enfermedad por almacenamiento de glucógeno (EAG) caracterizada por intolerancia al esfuerzo físico y episodios de rabdomiólisis por una deficiencia de la isoenzima muscular de la glucógeno fosforilasa."},"it":{"name":"Malattia da deposito di glicogeno da deficit di glicogeno fosforilasi muscolare","synonyms":["Deficit di miofosforilasi","GSD da deficit di glicogeno fosforilasi muscolare","GSD, tipo 5","Glicogenosi da deficit di glicogeno fosforilasi muscolare","Glicogenosi, tipo 5","Malattia da deposito di glicogeno, tipo 5","Malattia di McArdle"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glycogeenfosforylase in spier","synonyms":["GSD door deficiëntie van glycogeenfosforylase in spier","GSD type 5","GSD type V","Glycogeenstapelingsziekte type 5","Glycogeenstapelingsziekte type V","Glycogenose door deficiëntie van glycogeenfosforylase in spier","Glycogenose type 5","Glycogenose type V","Myofosforylasedeficiëntie","Ziekte van McArdle"],"definition":"Een vorm van glycogeenstapelingsziekte (GSD), gekenmerkt door inspanningsintolerantie en episodes van rhabdomyolyse, als gevolg van een deficiëntie van de isovorm van glycogeenfosforylase is spier."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de glicogenofosforilase muscular","synonyms":["Deficiência de miofosforilase","Doença de McArdle","Doença de armazenamento de glicogénio tipo 5","Glicogenose tipo 5"],"definition":"A deficiência de miofosforilase (doença de McArdle), ou doença de armazenamento de glicogénio tipo 5 (GSD5), é uma forma grave de doença de armazenamento de glicogénio caracterizada por intolerância ao exercício."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem mięśniowej fosforylazy glikogenu","synonyms":["Choroba McArdle'a","Choroba spichrzania glikogenu (GSD) typu 5","Glikogenoza spowodowana niedoborem mięśniowej fosforylazy glikogenu","Glikogenoza typu 5","GSD spowodowana niedoborem mięśniowej fosforylazy glikogenu","GSD typu 5","Niedobór mięśniowej fosforylazy glikogenowej"],"definition":"Postać choroby spichrzeniowej glikogenu charakteryzująca się nietolerancją wysiłku i epizodami rabdomiolizy wskutek niedoboru mięśniowej izoformy fosforylazy glikogenu."},"cs":{"name":"Porucha ukládání glykogenu způsobená deficitem svalové glykogenfosforylázy","synonyms":["GSD typ 5","GSD V","Glykogenóza, typ 5","Glykogenóza, typ V","McArdleho nemoc","Deficit myofosforylázy","GSD způsobená deficitem svalové glykogenfosforylázy","Glykogenóza způsobená deficitem svalové glykogenfosforylázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом мязової глікогенфосфорилази","synonyms":["Глікогенова хвороба 5-го типу","Хвороба накопичення глікогену V типу","Глікогеноз внаслідок дефіциту мязової глікогенфосфорилази","Глікогеноз типу 5","Глікогеноз V типу","GSD внаслідок дефіциту мязової глікогенфосфорилази","GSD тип 5","GSD тип V","Хвороба МакАрдля","Дефіцит міофосфорилази"],"definition":"Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance."},"zh":{"name":"肌糖原磷酸化酶缺乏所致糖原贮积病","synonyms":["肌糖原磷酸化酶缺乏所致糖原贮积病"]},"tr":{"name":"Kas glikojen fosforilaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 5","GSD tip V","McArdle hastalığı","Glikojenoz tip 5","Glikojenoz tip V","Miyofosforilaz eksikliği","Glikojen depo hastalığı tip 5","Glikojen depo hastalığı tip V","Kas glikojen fosforilaz eksikliğine bağlı GSD","Kas glikojen fosforilaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232600","qualifier":"E","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":"1934070304"},{"source":"MONDO","code":"0009293","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006012","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017924","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6528","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018462","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PYGM","name":"glycogen phosphorylase, muscle associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9726","ensembl":"ENSG00000068976","omim":"608455","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.035,"area":"Spain","status":"Validated","source":"29143597[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-05","source":"21880526[PMID]_20301518[PMID]_27922496[PMID]_29143597[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030231","label":"Glycogen accumulation in muscle fiber lysosomes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030234","label":"Highly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009051","label":"Increased muscle glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040319","label":"Dark urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008305","label":"Exercise-induced myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003652","label":"Recurrent myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008967","label":"Exercise-induced muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Very rare (<4-1%)","criteria":null}]}}