{"orpha":263297,"name":"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD type 15","GSD type XV","GSD with severe cardiomyopathy due to glycogenin deficiency","Glycogen storage disease type 15","Glycogen storage disease type XV","Glycogenosis type 15","Glycogenosis type XV","Glycogenosis with severe cardiomyopathy due to glycogenin deficiency"],"definition":"A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263297/","orphanet_url":"https://www.orpha.net/en/disease/detail/263297","names":{"fr":{"name":"Glycogénose avec cardiomyopathie sévère par déficit en glycogénine","synonyms":["GSD avec cardiomyopathie sévère par déficit en glycogénine","GSD type 15","GSD type XV","Glycogénose type 15","Glycogénose type XV"],"definition":"Maladie rare de stockage du glycogène à transmission autosomique récessive caractérisée par une cardiomyopathie sévère et une cardiomyopathie dilatée pouvant évoluer vers une insuffisance cardiaque nécessitant une transplantation. Les cardiomyocytes présentent d'importantes inclusions de dépôts correspondant à du polyglucosan. Les signes cliniques d'atteinte des muscles squelettiques sont généralement absents."},"de":{"name":"Glykogenose mit schwerer Kardiomyopathie durch Glycogenin-Mangel","synonyms":["GSD Typ 15","GSDXV","Glykogen-Speicherkrankheit Typ 15","Glykogen-Speicherkrankheit mit schwerer Kardiomyopathie durch Glycogenin-Mangel","Glykogenose Typ 15"],"definition":"Eine seltene autosomal-rezessive Glykogenspeicherkrankheit, die durch eine schwere Kardiomyopathie und eine Herzdilatation gekennzeichnet ist und möglicherweise zu einer Herzinsuffizienz führt, die eine Transplantation erforderlich macht. Kardiomyozyten weisen große Einschlüsse von Speichermaterial auf, das mit Polyglucosan übereinstimmt. Klinische Anzeichen einer Beteiligung der Skelettmuskulatur fehlen in der Regel."},"es":{"name":"Enfermedad por almacenamiento de glucógeno con miocardiopatía grave por deficiencia de glucogenina","synonyms":["Enfermedad de almacenamiento de glucógeno tipo 15","Enfermedad de almacenamiento de glucógeno tipo XV","GSD con miocardiopatía grave por deficiencia de glucogenina","GSD tipo 15","GSD tipo XV","Glucogenosis con miocardiopatía grave por deficiencia de glucogenina","Glucogenosis tipo 15","Glucogenosis tipo XV"],"definition":"Es una enfermedad autosómica recesiva poco frecuente por almacenamiento de glucógeno caracterizada por miocardiopatía grave y dilatación cardíaca que puede progresar a insuficiencia cardíaca que requiere trasplante. Los cardiomiocitos muestran grandes inclusiones de material de almacenamiento compatibles con poliglucosano. Por lo general, no hay evidencia clínica de afectación del músculo esquelético."},"it":{"name":"Malattia da deposito di glicogeno con cardiomiopatia grave da deficit di glicogenina","synonyms":["GSD con cardiomiopatia grave da deficit di glicogenina","GSD, tipo 15","GSD, tipo XV","Glicogenesi con cardiomiopatia grave da deficit di glicogenina","Glicogenosi da deficit di glicogenina","Glicogenosi, tipo 15","Glicogenosi, tipo XV","Malattia da deposito di glicogeno, tipo 15","Malattia da deposito di glicogeno, tipo XV"],"definition":"Il deposito di glicogeno tipo 5 è una malattia estremamente rara descritta finora in un solo paziente. I segni clinici comprendono la debolezza muscolare, l'aritmia cardiaca associata all'accumulo anomalo di glicogeno nel cuore e alla deplezione del glicogeno nei muscoli scheletrici."},"nl":{"name":"Glycogeenstapelingsziekte met ernstige cardiomyopathie door deficiëntie van glycogenine","synonyms":["GSD met ernstige cardiomyopathie door deficiëntie van glycogenine","GSD type 15","GSD type XV","Glycogeenstapelingsziekte type 15","Glycogeenstapelingsziekte type XV","Glycogenose met ernstige cardiomyopathie door deficiëntie van glycogenine","Glycogenose type 15","Glycogenose type XV"],"definition":"Een zeldzame autosomaal recessieve glycogeenstapelingsziekte, gekenmerkt door ernstige cardiomyopathie en dilatatie van hart met potentieel progressie naar hartfalen dat transplantatie vereist. Cardiomyocyten vertonen grote inclusies van opslagmateriaal consistent met polyglucosan. Klinisch bewijs voor betrokkenheid van skeletspier is meestal afwezig."},"pt":{"name":"Doença de armazenamento de glicogénio com miocardiopatia por deficiência de glicogenina","synonyms":["Glicogenose tipo 15"],"definition":"Doença rara de armazenamento de glicogénio autossómica recessiva caracterizada por cardiomiopatia grave e dilatação cardíaca, potencialmente progredindo para insuficiência cardíaca que requer transplante. Cardiomiócitos mostram grandes inclusões de material de armazenamento consistente com poliglucosano. Evidências clínicas de envolvimento do músculo esquelético geralmente estão ausentes."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru glikogeniny","synonyms":["Choroba spichrzania glikogenu typu 15","Choroba spichrzania glikogenu typu XV","Glikogenoza typu 15","Glikogenoza typu XV","Glikogenoza z powodu niedoboru glikogeniny","GSD typu 15","GSD typu XV","GSD z powodu niedoboru glikogeniny"],"definition":"Rzadka glikogenoza o dziedziczeniu autosomalnym recesywnym charakteryzująca się ciężką kardiomiopatią i poszerzeniem struktur serca, potencjalnie przechodzącą w niewydolność serca wymagającą przeszczepu. Kardiomiocyty zawierają wtręty spichrzanego materiału, którym jest poliglukozan. Zwykle nie dochodzi do zajęcia mięśni szkieletowych."},"cs":{"name":"Glykogenóza s těžkou kardiomyopatií způsobená deficitem glykogeninu","synonyms":["GSD typ 15","GSD typ XV","Glykogenóza, typ XV","Glykogenóza, typ 15","GSD s těžkou kardiomyopatií způsobená deficitem glykogeninu"]},"uk":{"name":"Хвороба накопичення глікогену з тяжкою кардіоміопатією через дефіцит глікогеніну","synonyms":["Хвороба накопичення глікогену, тип 15","Хвороба накопичення глікогену, тип XV","Глікогеноз типу 15","Глікогеноз типу XV","Глікогеноз з тяжкою кардіоміопатією внаслідок дефіциту глікогеніну","GSD тип 15","GSD тип XV","GSD з тяжкою кардіоміопатією внаслідок дефіциту глікогеніну"],"definition":"A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent."},"zh":{"name":"糖原蛋白不足所致糖原贮积症伴严重心肌病","synonyms":["糖原累积病伴糖原蛋白不足所致严重心肌病"],"definition":"糖原储存疾病15型是一种极其罕见的遗传性糖原储存疾病，迄今在一名患者中报道。临床症状包括肌肉无力、心律失常、心肌物质异常蓄积和骨骼肌糖原耗竭。"},"tr":{"name":"Glikojen eksikliğine bağlı ağır kardiyomiyopati ile seyreden glikojen depo hastalığı","synonyms":["GSD tip 15","GSD tip XV","Glikojenoz tip 15","Glikojenoz tip XV","Glikojen depo hastalığı tip 15","Glikojen depo hastalığı tip XV","Glikojenin eksikliğine bağlı ağır kardiyomiyopati ile seyreden GSD","Glikojenin eksikliğine bağlı ağır kardiyomiyopati ile seyreden glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"613507","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":"623301128"},{"source":"MONDO","code":"0013291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303568","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":"GYG1","name":"glycogenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20357282[PMID]","hgnc":"4699","ensembl":"ENSG00000163754","omim":"603942","loci":["3q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"20357282[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20357282[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-22","source":"20357282[PMID]","terms":[{"hpo":"HP:0009023","label":"Abdominal wall muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031319","label":"Cardiomyocyte hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012270","label":"Decreased muscle glycogen content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040014","label":"Increased mitochondrial number","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012251","label":"ST segment elevation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010872","label":"T-wave inversion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005144","label":"Ventricular septal hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Excluded (0%)","criteria":null}]}}