{"orpha":2089,"name":"Glycogen storage disease due to hepatic glycogen synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to hepatic glycogen synthase deficiency","GSD type 0a","Glycogen storage disease due to liver glycogen synthase deficiency","Glycogen storage disease type 0a","Glycogenosis type 0a"],"definition":"A rare genetically inherited anomaly of glycogen metabolism, considered a form of glycogen storage disease (GSD, or glycogenosis), characterized by post-meal hyperglycemia and fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as there is no storage of glycogen, the enzyme deficiency preventing hepatic glycogen synthesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2089/","orphanet_url":"https://www.orpha.net/en/disease/detail/2089","names":{"fr":{"name":"Glycogénose par déficit en glycogène synthase hépatique","synonyms":["GSD par déficit en glycogène synthase hépatique","GSD type 0a","Glycogénose type 0a"],"definition":"Anomalie génétique rare du métabolisme du glycogène, considérée comme une forme de maladie de stockage du glycogène (GSD ou glycogénose), caractérisée par une hyperglycémie post-prandiale et une hypoglycémie à jeun. Il ne s'agit pas d'une glycogénose à proprement parler, car le déficit enzymatique réduit les réserves de glycogène."},"de":{"name":"Glykogen-Speicherkrankheit durch hepatischen Glykogensynthase-Mangel","synonyms":["GSD Typ 0a","GSD durch hepatischen Glykogensynthase-Mangel","Glykogen-Speicherkrankheit Typ 0a","Glykogenose Typ 0a","Glykogensynthase-Mangel der Leber","Glykogensynthase-Mangel, hepatischer"],"definition":"Eine genetisch vererbte Anomalie des Glykogenstoffwechsels, die als eine Form der Glykogenspeicherkrankheit (GSD oder Glykogenose) angesehen wird und durch Hyperglykämie nach den Mahlzeiten und Hypoglykämie im nüchternen Zustand gekennzeichnet ist. Streng genommen handelt es sich hierbei nicht um eine Glykogenose, da keine Glykogenspeicherung vorliegt, sondern der Enzymmangel die Glykogensynthese in der Leber verhindert."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno sintasa hepática","synonyms":["Enfermedad de almacenamiento de glucógeno tipo 0a","GSD por deficiencia de glucógeno sintasa hepática","GSD tipo 0a","Glucogenosis tipo 0a"],"definition":"Es un trastorno hereditario poco frecuente del metabolismo del glucógeno, considerado una variante de la enfermedad por almacenamiento de glucógeno (GSD o glucogenosis). Se caracteriza por hiperglucemia posprandial e hipoglucemia en ayunas. En sentido estricto, no se trataría de una glucogenosis, ya que no hay almacenamiento de glucógeno, y la deficiencia enzimática impide la síntesis de glucógeno en el hígado."},"it":{"name":"Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi epatica","synonyms":["GSD da deficit di glicogeno sintasi epatica","GSD, tipo 0a","Glicogenosi, tipo 0a","Malattia da deposito di glicogeno, tipo 0a"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase in lever","synonyms":["GSD door hepatische glycogeensynthasedeficiëntie","GSD type 0a","Glycogeenstapelingsziekte door glycogeensynthasedeficiëntie in lever","Glycogeenstapelingsziekte door hepatische glycogeensynthasedeficiëntie","Glycogeenstapelingsziekte type 0a","Glycogenose type 0a"],"definition":"Een zeldzame genetisch overgeërfde anomalie van glycogeenmetabolisme, beschouwd als een vorm van glycogeenstapelingsziekte (GSD, of glycogenose), en gekenmerkt door postprandiale hyperglycemie en hypoglycemie bij vasten. Strikt genomen is dit geen glycogenose, aangezien er geen stapeling van glycogeen is, aangezien de enzymdeficiëntie synthese van glycogeen in de lever verhindert."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de glicogénio sintetase hepática","synonyms":["Glicogenose por deficiência de glicogénio sintetase hepática","Glicogenose tipo 0a"],"definition":"A deficiência de glicogénio sintetase, ou doença do armazenamento de glicogénio (GSD) do tipo 0, é uma doença hereditária do metabolismo do glicogénio caracterizada por hipoglicemia durante o jejum. Não é uma glicogenose, estritamente falando, uma vez que a deficiência da enzima diminui as reservas de glicogénio."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru wątrobowej syntazy glikogenowej","synonyms":["Choroba spichrzania glikogenu typu 0a","Choroba spichrzania glikogenu z powodu niedoboru wątrobowej syntazy glikogenowej","Glikogenoza typu 0a","GSD spowodowana niedoborem wątrobowej syntazy glikogenowej","GSD typu 0a"]},"cs":{"name":"Glykogenóza způsobená deficitem jaterní glykogensyntázy","synonyms":["GSD typ 0a","Glykogenóza, typ 0a","GSD způsobená deficitem jaterní glykogensyntázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом печінкової глікогенсинтетази","synonyms":["Хвороба накопичення глікогену через дефіцит глікогенсинтетази печінки","Глікогенова хвороба, тип 0a","Глікогеноз типу 0а","GSD через дефіцит печінкової глікогенсинтетази","GSD типу 0a"],"definition":"A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves."},"zh":{"name":"肝脏糖原合酶缺乏所致糖原贮积症","synonyms":["肝脏糖原合酶缺乏所致糖原贮积症"]},"tr":{"name":"Hepatik glikojen sentaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tipi 0a","Glikojenoz tipi 0a","Glikojen depo hastalığı tip 0a","Hepatik glikojen sentaz eksikliğine bağlı GSD","Karaciğer glikojen sentaz eksikliğine bağlı glikojen depo hastalığı"]}},"xrefs":[{"source":"OMIM","code":"240600","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":"1927530758"},{"source":"MONDO","code":"0009414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510753","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2513","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]}],"children":[],"genes":[{"symbol":"GYS2","name":"glycogen synthase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4707","ensembl":"ENSG00000111713","omim":"138571","loci":["12p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"12072888[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-28","source":"16337419[PMID]","terms":[{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012734","label":"Ketotic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}