{"orpha":369,"name":"Glycogen storage disease due to liver glycogen phosphorylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to liver glycogen phosphorylase deficiency","GSD type 6","GSD type VI","Glycogen storage disease type 6","Glycogen storage disease type VI","Glycogenosis due to liver glycogen phosphorylase deficiency","Glycogenosis type 6","Glycogenosis type VI","Hepatic glycogen phosphorylase deficiency","Hepatic phosphorylase deficiency","Hers disease","Liver glycogen phosphorylase deficiency"],"definition":"A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by hepatomegaly and growth delay in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369/","orphanet_url":"https://www.orpha.net/en/disease/detail/369","names":{"fr":{"name":"Glycogénose par déficit en phosphorylase hépatique","synonyms":["GSD par déficit en phosphorylase hépatique","GSD type 6","GSD type VI","Glycogénose type 6","Glycogénose type VI","Maladie de Hers"],"definition":"Forme rare de maladie de stockage du glycogène (GSD pour glycogen storage disease) caractérisée par un déficit en glycogène phosphorylase hépatique entraînant une altération de la glycogénolyse, ainsi que par une hépatomégalie et un retard de croissance dans l'enfance."},"de":{"name":"Glykogenose Typ 6","synonyms":["GSD Typ 6","GSD Typ VI","GSD durch Glykogen-Phosphorylase-Mangel der Leber","Glykogen-Phosphorylase-Mangel der Leber","Glykogen-Speicherkrankheit Typ 6","Glykogen-Speicherkrankheit Typ VI","Glykogen-Speicherkrankheit durch hepatischen Glykogen-Phosphorylase-Mangel","Glykogenose Typ VI","Hers-Krankheit","Phosphorylase-Mangel, hepatischer"],"definition":"Eine seltene Form der Glykogenspeicherkrankheit (GSD), die durch einen Mangel an hepatischer Glykogenphosphorylase gekennzeichnet ist und mit einer gestörten Glykogenolyse einhergeht. Charakteristisch sind Hepatomegalie und Wachstumsverzögerung im Kindesalter."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno fosforilasa hepática","synonyms":["Deficiencia de fosforilasa hepática","Deficiencia de glucógeno fosforilasa en el hígado","Deficiencia de glucógeno fosforilasa hepática","Enfermedad de Hers","Enfermedad de almacenamiento de glucógeno tipo 6","Enfermedad de almacenamiento de glucógeno tipo VI","GSD por deficiencia de glucógeno fosforilasa hepática","GSD tipo 6","GSD tipo VI","Glucogenosis por deficiencia de glucógeno fosforilasa hepática","Glucogenosis tipo 6","Glucogenosis tipo VI"],"definition":"Es una forma poco frecuente de enfermedad por almacenamiento de glucógeno (GSD, por sus siglas en inglés) caracterizada por una deficiencia de glucógeno fosforilasa hepática, lo que conduce a una alteración de la glucogenólisis y se manifiesta con hepatomegalia y retraso del crecimiento en la infancia."},"it":{"name":"Malattia da deposito di glicogeno da deficit della glicogeno fosforilasi epatica","synonyms":["Deficit di fosforilasi epatica","Deficit di glicogeno fosforilasi del fegato","Deficit di glicogeno fosforilasi epatica","GSD da deficit di glicogeno fosforilasi epatica","GSD, tipo 6","Glicogenosi da deficit di glicogeno fosforilasi epatica","Glicogenosi, tipo 6","Malattia da deposito di glicogeno, tipo 6","Malattia di Hers"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van glycogeenfosforylase in lever","synonyms":["GSD door deficiëntie van glycogeenfosforylase in lever","GSD type 6","GSD type VI","Glycogeenfosforylasedeficiëntie in lever","Glycogeenstapelingsziekte type 6","Glycogeenstapelingsziekte type VI","Glycogenose door deficiëntie van glycogeenfosforylase in lever","Glycogenose type 6","Glycogenose type VI","Hepatische fosforylasedeficiëntie","Hepatische glycogeenfosforylasedeficiëntie","Ziekte van Hers"],"definition":"Een zeldzame vorm van glycogeenstapelingsziekte (GSD) door deficiëntie van hepatisch glycogeenfosforylase die leidt tot verstoorde glycogenolyse, gekenmerkt door hepatomegalie en groeiachterstand in de kindertijd."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de glicogenofosforilase hepática","synonyms":["Doença de armazenamento de glicogénio tipo 6","Glicogenose por deficiência de glicogenofosforilase hepática","Glicogenose tipo 6"],"definition":"A deficiência de fosforilase hepática ou doença de armazenamento de glicogénio tipo 6b (doença de Hers, GSD 6b) é uma forma benigna e rara de doença de armazenamento de glicogénio."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem wątrobowej fosforylazy glikogenu","synonyms":["Choroba Hersa","Choroba spichrzania glikogenu typu 6B","Glikogenoza spowodowana niedoborem wątrobowej fosforylazy glikogenu","Glikogenoza typu 6B","GSD spowodowana niedoborem wątrobowej fosforylazy glikogenu","GSD typu 6B","Niedobór fosforylazy wątrobowej","Niedobór wątrobowej fosforylazy glikogenu","Niedobór wątrobowej fosforylazy glikogenu"],"definition":"Niedobór fosforylazy wątrobowej, czyli choroba spichrzania glikogenu typu 6b (choroba Hersa, GSD 6b), jest łagodną i rzadką postacią glikogenozy."},"cs":{"name":"Glykogenóza způsobená deficitem jaterní fosforylázy","synonyms":["GSD typ 6","GSD VI","Glykogenóza, typ 6","Glykogenóza, typ VI","Deficit jaterní glykogenfosforylázy","Deficit jaterní fosforylázy","Hersova choroba","GSD způsobená deficitem jaterní glykogenfosforylázy","Glykogenóza způsobená deficitem jaterní glykogenfosforylázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом глікогенфосфорилази печінки","synonyms":["Хвороба накопичення глікогену, тип 6","Хвороба накопичення глікогену VI типу","Глікогеноз внаслідок дефіциту глікогенфосфорилази печінки","Глікогеноз типу 6","Глікогеноз VI типу","GSD внаслідок дефіциту глікогенфосфорилази печінки","GSD тип 6","GSD тип VI","Дефіцит печінкової глікогенфосфорилази","Дефіцит печінкової фосфорилази","Хвороба Герса","Дефіцит глікогенфосфорилази печінки"],"definition":"Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease."},"zh":{"name":"肝糖原磷酸化酶缺乏所致糖原贮积病","synonyms":["肝糖原磷酸化酶缺乏所致糖原贮积病"]},"tr":{"name":"Karaciğer glikojen fosforilaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 6","GSD tip VI","Hers hastalığı","Glikojenoz tip 6","Glikojenoz tip VI","Glikojen depo hastalığı tip 6","Glikojen depo hastalığı tip VI","Hepatik fosforilaz eksikliği","Karaciğer glikojen fosforilaz eksikliği","Hepatik glikojen fosforilaz eksikliği","Karaciğer glikojen fosforilaz eksikliğine bağlı GSD","Karaciğer glikojen fosforilaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232700","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":"1656693213"},{"source":"MONDO","code":"0009294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006013","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017925","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6529","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053240","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":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"PYGL","name":"glycogen phosphorylase L","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9725","ensembl":"ENSG00000100504","omim":"613741","loci":["14q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-05","source":"25266922[PMID]_20301760[PMID]_31768638[PMID]_30659246[PMID]","terms":[{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006568","label":"Increased hepatic glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001946","label":"Ketosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003710","label":"Exercise-induced muscle cramps","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004913","label":"Intermittent lactic acidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006580","label":"Portal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011997","label":"Postprandial hyperlactemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very rare (<4-1%)","criteria":null}]}}