{"orpha":99849,"name":"Glycogen storage disease due to muscle beta-enolase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to muscle beta-enolase deficiency","GSDXIII","Glycogenosis due to muscle beta-enolase deficiency","Glycogenosis type 13","Muscle enolase deficiency","Muscular enolase deficiency"],"definition":"A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99849/","orphanet_url":"https://www.orpha.net/en/disease/detail/99849","names":{"fr":{"name":"Glycogénose par déficit en bêta-énolase musculaire","synonyms":["Déficit en énolase musculaire","GSD par déficit en bêta-énolase musculaire","GSDXIII","Glycogénose type 13"],"definition":"Trouble rare de la glycolyse qui se manifeste cliniquement par une intolérance à l'effort et des douleurs musculaires dues à un grave déficit en énolase dans les muscles."},"de":{"name":"Glykogenose durch muskulären beta-Enolase-Mangel","synonyms":["Beta-Enolase-Mangel","GSDXIII","Glykogen-Speicherkrankheit durch muskulären Enolase 3-Mangel","Glykogenose Typ 13"],"definition":"Der Muskel-Beta-Enolase-Mangel ist eine Störung der Glykolyse und wurde bisher bei 1 Patienten beschrieben. Klinische Merkmale als Folge des schweren Enolase-Mangels in der Muskulatur sind Belastungsintoleranz und Myalgie."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de beta-enolasa muscular","synonyms":["GSDXIII","Glucogenosis por deficiencia de beta-enolasa muscular","Glucogenosis tipo 13","Deficiencia de enolasa del músculo","Deficiencia de enolasa muscular","GSD por deficiencia de beta-enolasa muscular"],"definition":"El déficit de beta-enolasa muscular es un trastorno de la glucólisis, descrito en un solo paciente hasta la fecha, que se caracteriza clínicamente por intolerancia al ejercicio y mialgia debida a un déficit grave de enolasa en el músculo."},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit di beta-enolasi muscolare","synonyms":["Deficit di enolasi muscolare","GSD da deficit di beta-enolasi muscolare","GSDXIII","Glicogenosi da deficit di beta-enolasi muscolare","Glicogenosi, tipo 13"],"definition":"Il deficit muscolare di beta-enolasi è un disturbo della glicolisi, descritto finora in un solo paziente, caratterizzato da intolleranza all'esercizio e mialgia da deficit grave di enolasi nei muscoli."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier","synonyms":["Deficiëntie van enolase in spier","GSD door deficiëntie van bèta-enolase in spier","GSDXIII","Glycogenose door deficiëntie van bèta-enolase in spier","Glycogenose type 13","Musculaire deficiëntie van enolase"],"definition":"Een stoornis van glycolyse, tot op heden gerapporteerd bij één patiënt, en klinisch gekenmerkt door inspanningsintolerantie en myalgie als gevolg van ernstige deficiëntie van enolase in spier."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de beta-enolase muscular","synonyms":["Glicogenose tipo 13"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru beta-enolazy mięśniowej","synonyms":["Glikogenoza typu 13","Glikogenoza z powodu niedoboru beta-enolazy mięśniowej","GSD z powodu niedoboru beta-enolazy mięśniowej","GSDXIII","Niedobór enolazy mięśniowej"]},"cs":{"name":"Glykogenóza způsobená deficitem svalové beta-enolázy","synonyms":["GSDXIII","Glykogenóza, typ 13","Deficit svalové enolázy","GSD způsobená deficitem svalové beta-enolázy"]},"uk":{"name":"Хвороба накопичення глікогену через дефіцит мязової бета-енолази","synonyms":["Глікогеноз внаслідок дефіциту мязової бета-енолази","Глікогеноз типу 13","GSD через дефіцит мязової бета-енолази","GSDXIII","Дефіцит мязової енолази","Дефіцит мязової енолази"],"definition":"A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle."},"zh":{"name":"肌肉β-烯醇酶缺乏所致糖原贮积症","synonyms":["肌肉β-烯醇酶缺乏所致糖原贮积症"],"definition":"肌肉β-烯醇化酶缺乏症是一种糖酵解障碍，迄今为止报道过一例，其临床特征是由于肌肉中严重的烯醇化酶缺乏症而导致的运动不耐受和肌痛。"},"tr":{"name":"Kas beta-enolaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSDXIII","Glikojenoz tip 13","Kas enolaz eksikliği","Kas enolaz eksikliği","Kas beta-enolaz eksikliğine bağlı GSD","Kas beta-enolaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"612932","qualifier":"E","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":"index","validated":true,"icd11_uri":"821809975"},{"source":"MONDO","code":"0013046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566614","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2125","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":"ENO3","name":"enolase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11506403[PMID]","hgnc":"3354","ensembl":"ENSG00000108515","omim":"131370","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11506403[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11506403[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-11","source":"34485019[PMID]_31741825[PMID]","terms":[{"hpo":"HP:0034633","label":"Reduced muscle enolase activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009045","label":"Exercise-induced rhabdomyolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009051","label":"Increased muscle glycogen content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008305","label":"Exercise-induced myoglobinuria","frequency":"Occasional (29-5%)","criteria":null}]}}