{"orpha":370,"name":"Glycogen storage disease due to phosphorylase kinase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["GSD due to phosphorylase kinase deficiency","GSD type 9","GSD type IX","Glycogen storage disease due to PhK deficiency","Glycogen storage disease type 9","Glycogen storage disease type IX","Glycogenosis due to phosphorylase kinase deficiency","Glycogenosis type 9","Glycogenosis type IX","Gycogenosis due to PhK deficiency"],"definition":"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370/","orphanet_url":"https://www.orpha.net/en/disease/detail/370","names":{"fr":{"name":"Glycogénose par déficit en phosphorylase kinase","synonyms":["GSD par déficit en PhK","GSD par déficit en phosphorylase kinase","GSD type 9","GSD type IX","Glycogénose par déficit en PhK","Glycogénose type 9","Glycogénose type IX"],"definition":"La glycogénose par déficit en phosphorylase kinase est un groupe d'erreurs innées du métabolisme du glycogène, qui est cliniquement et génétiquement hétérogène. Le groupe comprend la glycogénose par déficit en phosphorylase kinase (PhK) hépatique, la glycogénose par déficit en PhK musculaire et la glycogénose par déficit en PhK hépatique et musculaire."},"de":{"name":"Glykogenose durch Phosphorylase-Kinase-Mangel","synonyms":["GSD Typ 9","GSD Typ IX","GSD durch Phosphorylasekinase-Mangel","Glykogen-Speicherkrankheit IX","Glykogen-Speicherkrankheit Typ 9","Glykogenose Typ 9","Glykogenose Typ IX","Glykogenose durch PhK-Mangel"],"definition":"Die Glykogenspeicherkrankheit (GSD) durch Phosphorylasekinase (PhK)-Mangel ist eine klinisch und genetisch heterogene Gruppe angeborener Störungen des Glykogenstoffwechsels. Zu dieser Gruppe gehören GSD durch Leber-PhK-Mangel, GSD durch Muskel-PhK-Mangel und GSD durch Leber- und Muskel-PhK-Mangel (s. diese Termini)."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosforilasa quinasa","synonyms":["Enfermedad de almacenamiento de glucógeno por deficiencia de PhK","Enfermedad de almacenamiento de glucógeno tipo 9","Enfermedad de almacenamiento de glucógeno tipo IX","GSD por deficiencia de fosforilasa quinasa","GSD tipo 9","GSD tipo IX","Glucogenosis por deficiencia de PhK","Glucogenosis por deficiencia de fosforilasa quinasa","Glucogenosis tipo 9","Glucogenosis tipo IX"],"definition":"Las enfermedades de almacenamiento de glucógeno (EAG) por déficit de fosforilasa quinasa (PhK) es un grupo de errores congénitos del metabolismo del glucógeno clínica y genéticamente heterogéneo. El grupo incluye EAG por déficit de PhK hepática, EAG por déficit de PhK muscular y EAG por déficit de PhK hepática y muscular (ver términos)."},"it":{"name":"Glicogenosi da deficit di fosforilasi chinasi","synonyms":["GSD da deficit di fosforilasi chinasi","GSD, tipo 9","GSD, tipo IX","Glicogenosi da deficit di PhK","Glicogenosi, tipo 9","Glicogenosi, tipo IX","Malattia da deposito di glicogeno da deficit di PhK","Malattia da deposito di glicogeno da deficit di fosforilasi chinasi","Malattia da deposito di glicogeno, tipo 9","Malattia da deposito di glicogeno, tipo IX"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosforylasekinase","synonyms":["GSD door deficiëntie van fosforylasekinase","GSD type 9","GSD type IX","Glycogeenstapelingsziekte door FK-deficiëntie","Glycogeenstapelingsziekte type 9","Glycogeenstapelingsziekte type IX","Glycogenose door FK-deficiëntie","Glycogenose door deficiëntie van fosforylasekinase","Glycogenose type 9","Glycogenose type IX"],"definition":"Glycogeenstapelingsziekte (GSD) door fosforylasekinasedeficiëntie is een klinisch en genetisch heterogene groep van aangeboren storingen van het glycogeenmetabolisme. Deze groep bestaat uit GSD als gevolg van fosforylasekinase (FK)-deficiëntie in de lever, GSD als gevolg van FK-deficiëntie in de spier en GSD als gevolg van FK-deficiëntie in de lever en de spier (zie deze termen)."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de fosforilase cinase","synonyms":["Glicogenose tipo 9 por deficiência de fosforilase cinase"],"definition":"A doença de armazenamento de glicogénio (GSD) por deficiência de fosforilase cinase é um grupo de erros inatos do metabolismo do glicogénio que é clínica e geneticamente heterogéneo. Este grupo é compreende a GSD por deficiência de fosforilase cinase hepática (PhK), GSD por deficiência muscular de PhK e GSD por deficiência hepática e muscular de PhK (ver estes termos)."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem kinazy fosforylazy","synonyms":["Choroba spichrzania glikogenu spowodowana niedoborem PhK","Choroba spichrzania glikogenu typu 9","Choroba spichrzania glikogenu typu IX","Glikogenoza spowodowana niedoborem kinazy fosforylazy","Glikogenoza spowodowana niedoborem PhK","Glikogenoza typu 9","GSD spowodowana niedoborem kinazy fosforylazy","GSD typu 9","GSD typu IX"],"definition":"Choroba spichrzania glikogenu spowodowana niedoborem fosfolinazy to grupa wrodzonych wad metabolizmu glikogenu o dużej heterogenności klinicznej i genetycznej. Do tej grupy zalicza się glikogenozy spowodowane niedoborem fosfokinazy wątrobowej, fosfokinazy mięśniowej lub fosfokinazy wątrobowej i mięśniowej (zobacz te hasła)."},"cs":{"name":"Glykogenóza způsobená deficitem fosforylázy kinázy","synonyms":["GSD IX z deficitu fosforylázy-kinázy","GSD typ 9","GSD, typ IX","Glykogenóza, typ 9","Glykogenóza, typ IX","Glykogenóza způsobená deficitem PhK","Glykogenóza způsobená deficitem fosforylázy-kinázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлений дефіцитом фосфорилазної кінази","synonyms":["Хвороба накопичення глікогену внаслідок дефіциту PhK","Хвороба накопичення глікогену, тип 9","Глікогенова хвороба IX типу","Глікогеноз внаслідок дефіциту фосфорилазокінази","Глікогеноз типу 9","Глікогеноз IX типу","GSD внаслідок дефіциту фосфорилазної кінази","GSD тип 9","GSD тип IX","Глікогеноз внаслідок дефіциту PhK"],"definition":"Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)."},"zh":{"name":"磷酸化酶激酶缺乏所致糖原贮积病","synonyms":["磷酸化酶激酶缺乏所致糖原贮积病"]},"tr":{"name":"Fosforilaz kinaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 9","GSD tip IX","Glikojenoz tip 9","Glikojenoz tip IX","Glikojen depo hastalığı tip 9","Glikojen depo hastalığı tip IX","PhK eksikliğine bağlı gikojenoz","Fosforilaz kinaz eksikliğine bağlı GSD","PhK eksikliğine bağlı glikojen depo hastalığı","Fosforilaz kinaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1544583473"},{"source":"MeSH","code":"C580130","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848056","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083034","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]}],"children":[{"orpha":79240,"name":"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency","type":"Disease"},{"orpha":264580,"name":"Glycogen storage disease due to liver phosphorylase kinase deficiency","type":"Disease"},{"orpha":715,"name":"Glycogen storage disease due to muscle phosphorylase kinase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Specific population","status":"Validated","source":"33239050[PMID]"}],"phenotypes":null}