{"orpha":137625,"name":"Glycogen storage disease due to muscle and heart glycogen synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to muscle and heart glycogen synthase deficiency","GSD type 0b","Glycogen storage disease type 0b","Glycogenosis due to muscle and heart glycogen synthase deficiency","Glycogenosis type 0b"],"definition":"Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137625/","orphanet_url":"https://www.orpha.net/en/disease/detail/137625","names":{"fr":{"name":"Glycogénose par déficit en glycogène synthase cardiaque et musculaire","synonyms":["GSD par déficit en glycogène synthase cardiaque et musculaire","GSD type 0b","Glycogénose type 0b"],"definition":"La glycogénose par déficit en glycogène synthase cardiaque et musculaire se caractérise par un déficit musculaire et cardiaque en glycogène. Il a été décrit chez trois frères et soeurs. Le frère aîné est décédé d'un arrêt cardiaque à l'âge de 10 ans et demi, le second frère présente une fatigue musculaire, une cardiomyopathie hypertrophique, un rythme cardiaque et une pression sanguine anormale durant l'effort. La jeune soeur ne présente pas de symptôme. Ce syndrome est dû à une mutation non-sens homozygote dans le gène codant la glycogène synthétase musculaire."},"de":{"name":"Glykogenose durch Muskel- und Herzglykogensynthase-Mangel","synonyms":["GSD Typ 0b","Glykogen-Speicherkrankheit Typ 0b","Glykogen-Speicherkrankheit durch muskulären Glykogensythasemangel","Glykogenose Typ 0b"],"definition":"Dieses Syndrom ist gekennzeichnet durch einen Glykogenmangel in der Skelett- und Herzmuskulatur."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno sintasa en músculo y corazón","synonyms":["Enfermedad de almacenamiento de glucógeno tipo 0b","GSD por deficiencia de glucógeno sintasa en músculo y corazón","GSD tipo 0b","Glucogenosis por deficiencia de glucógeno sintasa en músculo y corazón","Glucogenosis tipo 0b"],"definition":"Este síndrome se caracteriza por un déficit muscular y cardíaco de glucógeno. Fue descrito en tres hermanos: dos varones y su hermana más joven. El primogénito murió a la edad de 10 años y medio como resultado de una parada cardíaca repentina y el segundo hermano presentó miocardiopatía hipertrófica, ritmo cardíaco y presión arterial anormales durante el ejercicio y fatiga muscular. La hermana no presentó síntomas, pero en la biopsia muscular se detectó la falta de glucógeno. Este síndrome está causado por mutaciones sin sentido homocigotas en el gen que codifica para la glucógeno sintetasa muscular."},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi cardiaca e muscolare","synonyms":["GSD da deficit di glicogeno sintasi muscolare e cardiaca","GSD, tipo 0b","Glicogenosi da deficit di glicogeno sintasi muscolare e cardiaca","Glicogenosi, tipo 0b","Malattia da deposito di glicogeno, tipo 0b"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase in spier en hart","synonyms":["GSD door deficiëntie van glycogeensynthase in spier en hart","GSD type 0b","Glycogeenstapelingsziekte type 0b","Glycogenose door deficiëntie van glycogeensynthase in spier en hart","Glycogenose type 0b"],"definition":"Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase in spier en hart wordt gekenmerkt door deficiëntie van glycogeen in spier en hart. Het werd beschreven bij drie broers/zussen (twee broers en hun jongere zus). De oudere broer stierf op een leeftijd van 10,5 als gevolg van plotse hartstilstand, en de jongere broer vertoonde hypertrofische cardiomyopathie, abnormale hartslagfrequentie en bloeddruk tijdens fysieke inspanning, en vermoeibaarheid van spier. De zus vertoonde geen symptomen, maar er werd een gebrek aan glycogeen geïdentificeerd bij spierbiopsie. Het syndroom wordt veroorzaakt door homozygote missense mutaties in het gen dat codeert voor glycogeensynthase in spier."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de glicogénio sintetase muscular e cardíaca","synonyms":["Glicogenose por deficiência de glicogénio sintetase muscular e cardíaca","Glicogenose tipo 0b"],"definition":"Esta síndrome é caracterizada por deficiência de glicogénio no músculo e no coração."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru mięśniowej i sercowej syntazy glikogenu","synonyms":["Choroba spichrzania glikogenu typu 0b","Glikogenoza typu 0b","Glikogenoza z powodu niedoboru mięśniowej i sercowej syntazy glikogenu","GSD typu 0b","GSD z powodu niedoboru mięśniowej i sercowej syntazy glikogenu"]},"cs":{"name":"Glykogenóza způsobená deficitem svalové a srdeční glykogensyntázy","synonyms":["GSD typ 0b","Glykogenóta, typ 0b","Glykogenóza, typ 0b","GSD způsobená deficitem svalové a srdeční glykogensyntázy"]},"uk":{"name":"Хвороба накопичення глікогену через дефіцит глікогенсинтази в мязах і серці","synonyms":["Глікогенова хвороба, тип 0b","Глікогеноз внаслідок дефіциту глікогенсинтетази в мязах і серці","Глікогеноз типу 0b","ГСД внаслідок дефіциту глікогенсинтетази в мязах і серці","GSD типу 0b"],"definition":"Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."},"zh":{"name":"肌肉和心脏糖原合酶缺乏所致糖原贮积病","synonyms":["肌糖原和心脏糖原合成酶缺陷所致糖原贮积症"],"definition":"由于肌肉和心脏糖原合酶缺乏导致的糖原储存疾病的特征是肌肉和心脏糖原缺乏。在三个兄弟姐妹(两个兄弟和他们的妹妹)中都有描述。哥哥在10.5岁时因心脏骤停死亡，弟弟表现为肥厚性心肌病、运动时心率和血压异常和肌肉疲劳。姐姐没有表现出任何症状，但通过肌肉活检发现缺乏糖原。该综合征是由编码肌糖原合酶的基因纯合错义突变引起的。"},"tr":{"name":"Kas ve kalp glikojen sentaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD türü 0b","Glikojenoz tipi 0b","Glikojen depo hastalığı tipi 0b","Kas ve kalp glikojen sentaz eksikliğine bağlı GSD","Kas ve kalp glikojen sentaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"611556","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":"1108770803"},{"source":"MONDO","code":"0012693","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510752","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10760","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308520,"name":"Glycogen storage disease due to glycogen synthase deficiency","classifications":[150,156]},{"orpha":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"GYS1","name":"glycogen synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4706","ensembl":"ENSG00000104812","omim":"138570","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17928598[PMID]_19699667[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17928598[PMID]_19699667[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-11-21","source":"40536305[PMID]_21958591[PMID]","terms":[{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012270","label":"Decreased muscle glycogen content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null}]}}