{"orpha":264580,"name":"Glycogen storage disease due to liver phosphorylase kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to liver phosphorylase kinase deficiency","GSD type 9A","GSD type 9C","GSD type IXa","GSD type IXc","Glycogen storage disease type 9A","Glycogen storage disease type 9C","Glycogen storage disease type IXa","Glycogen storage disease type IXc","Glycogenosis due to liver phosphorylase kinase deficiency","Glycogenosis type 9A","Glycogenosis type 9C","Glycogenosis type IXa","Glycogenosis type IXc","XLG"],"definition":"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-264580/","orphanet_url":"https://www.orpha.net/en/disease/detail/264580","names":{"fr":{"name":"Glycogénose par déficit en phosphorylase kinase hépatique","synonyms":["GSD par déficit en phosphorylase kinase hépatique","GSD type 9A","GSD type 9C","GSD type IXa","GSD type IXc","Glycogénose type 9A","Glycogénose type 9C","Glycogénose type IXa","Glycogénose type IXc","XLG"],"definition":"La glycogénose par déficit en phosphorylase kinase (PhK) hépatique est une erreur innée du métabolisme du glycogène qui est bénigne, caractérisée par une hépatomégalie, un retard de croissance et un retard léger du développement moteur pendant l'enfance."},"de":{"name":"Glykogenose durch Leberphosphorylasekinasemangel","synonyms":["GSD Typ 9A","GSD Typ 9C","GSD Typ IXc","GSD durch Leberphosphorylasekinasemangel","GSD type IXa","Glykogen-Speicherkrankheit Typ 9A","Glykogen-Speicherkrankheit Typ 9C","Glykogen-Speicherkrankheit Typ IXa","Glykogen-Speicherkrankheit Typ IXc","Glykogenose Typ 9A","Glykogenose Typ 9C","Glykogenose Typ IXa","Glykogenose Typ IXc","XLG"],"definition":"Die Glykogenspeicherkrankheit (GSD) durch Leber-Phosphorylasekinase (PhK)-Mangel ist ein benigner angeborener Defekt im Glykogenstoffwechsel und gekennzeichnet durch Hepatomegalie, retardiertes Wachstum und durch im Kindesalter leicht verzögerte motorische Entwicklung. Es ist die häufigste Form der GSD mit PhK-Mangel."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosforilasa quinasa hepática","synonyms":["Enfermedad de almacenamiento de glucógeno tipo 9A","Enfermedad de almacenamiento de glucógeno tipo 9C","Enfermedad de almacenamiento de glucógeno tipo IXa","Enfermedad de almacenamiento de glucógeno tipo IXc","GSD por deficiencia de fosforilasa quinasa hepática","GSD tipo 9A","GSD tipo 9C","GSD tipo IXa","GSD tipo IXc","Glucogenosis por deficiencia de fosforilasa quinasa hepática","Glucogenosis tipo 9A","Glucogenosis tipo 9C","Glucogenosis tipo IXa","Glucogenosis tipo IXc","XLG"],"definition":"La enfermedad de almacenamiento de glucógeno (GSD) por déficit de fosforilasa quinasa hepática (PhK) es un error innato del metabolismo del glucógeno caracterizado por hepatomegalia, retraso en el crecimiento, y leve retraso en el desarrollo motor durante la infancia."},"it":{"name":"Glicogenosi da deficit di fosforilasi chinasi epatica","synonyms":["GSD da deficit di fosforilasi-chinasi epatica","GSD, tipo 9A","GSD, tipo 9C","GSD, tipo IXa","GSD, tipo IXc","Glicogenosi, tipo 9A","Glicogenosi, tipo 9C","Glicogenosi, tipo IXa","Glicogenosi, tipo IXc","Malattia da deposito di glicogeno da deficit di fosforilasi chinasi epatica","Malattia da deposito di glicogeno, tipo 9C","Malattia da deposito di glicogeno, tipo IXa","Malattia da deposito di glicogeno, tipo IXc","Malattia da deposito di glicogeno, tipo 9A","XLG"],"definition":"La glicogenosi (GSD) da deficit di fosforilasi chinasi epatica (PhK) è un difetto congenito benigno del metabolismo del glicogeno, caratterizzato da epatomegalia, ritardo della crescita e lieve ritardo dello sviluppo motorio durante l'infanzia."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosforylasekinase in lever","synonyms":["GSD door deficiëntie van fosforylasekinase in lever","GSD type 9A","GSD type 9C","GSD type IXa","GSD type IXc","Glycogeenstapelingsziekte type 9A","Glycogeenstapelingsziekte type 9C","Glycogeenstapelingsziekte type IXa","Glycogeenstapelingsziekte type IXc","Glycogenose door deficiëntie van fosforylasekinase in lever","Glycogenose type 9A","Glycogenose type 9C","Glycogenose type IXa","Glycogenose type IXc","XLG"],"definition":"Glycogeenstapelingsziekte (GSD) door een deficiëntie van fosforylasekinase (PhK) in de lever is een goedaardige aangeboren afwijking van het glycogeenmetabolisme gekenmerkt door hepatomegalie, groeiachterstand en een licht vertraagde motorische ontwikkeling in de kinderjaren."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de fosforilase-cinase hepática","synonyms":["Glicogenose tipo 9A","Glicogenose tipo 9C"],"definition":"A doença de armazenamento do glicogénio (GSD), por deficiência da fosforilase-cinase hepática (PhK) é uma doença do metabolismo do glicogénio, benigna, caracterizada por hepatomegalia, atraso de crescimento e atraso ligeiro do desenvolvimento motor durante a infância."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru kinazy fosforylazy wątrobowej","synonyms":["Choroba spichrzania glikogenu typu 9A","Choroba spichrzania glikogenu typu 9C","Choroba spichrzania glikogenu typu IXa","Choroba spichrzania glikogenu typu IXc","Glikogenoza typu 9A","Glikogenoza typu 9C","Glikogenoza typu IXa","Glikogenoza typu IXc","Glikogenoza z powodu niedoboru kinazy fosforylazy wątrobowej","GSD typu 9A","GSD typu 9C","GSD typu IXa","GSD typu IXc","GSD z powodu niedoboru kinazy fosforylazy wątrobowej","XLG"]},"cs":{"name":"Glykogenóza způsobená deficitem jaterní fosforyláza-kinázy","synonyms":["GSD typ 9A","GSD typ 9C","GSD typ IXa","GSD typ IXc","Glykogenóza, typ 9C","Glykogenóza, typ IXA","Glykogenóza, typ IXC","Glykogenóza, typ 9A","XLG","GSD způsobená deficitem jaterní fosforyláza-kinázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом печінкової фосфорилазної кінази","synonyms":["Хвороба накопичення глікогену, тип 9А","Хвороба накопичення глікогену, тип 9C","Глікогенова хвороба, тип IXa","Глікогенова хвороба, тип IXc","Глікогеноз внаслідок дефіциту печінкової фосфорилазокінази","Глікогеноз типу 9А","Глікогеноз типу 9С","Глікогеноз типу IXa","Глікогеноз типу IXc","ГСД внаслідок дефіциту печінкової фосфорилазної кінази","GSD тип 9A","GSD тип 9C","GSD типу IXa","GSD типу IXc","XLG"],"definition":"Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood."},"zh":{"name":"肝磷酸化酶激酶缺乏所致糖原贮积症","synonyms":["肝磷酸化酶激酶缺乏所致糖原累积病"],"definition":"肝磷酸酶激酶(PhK)缺乏所致的糖原贮积症(GSD)是一种良性的先天性糖原代谢疾病，其特征是肝脏肿大，生长迟缓，儿童时期运动发育轻度迟缓。"},"tr":{"name":"Karaciğer fosforilaz kinaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["XLG","GSD tip 9A","GSD tip 9C","GSD tipIXa","GSD tip IXc","Glikojenez tip 9A","Glikojenez tip 9C","Glikojenez tip IXa","Glikojenez tip IXc","Glikojen depo hastalığı tip 9A","Glikojen depo hastalığı tip 9C","Glikojen depo hastalığı tip IXa","Glikojen depo hastalığı tip IXc","Karaciğer fosforilaz kinaz eksikliğine bağlı GSD","Karaciğer fosforilaz kinaz eksikliğine bağlı glikojenez"]}},"xrefs":[{"source":"OMIM","code":"306000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613027","qualifier":"BTNT","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":"564605304"},{"source":"MONDO","code":"0020693","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3694529","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":370,"name":"Glycogen storage disease due to phosphorylase kinase deficiency","classifications":[150,156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"PHKA2","name":"phosphorylase kinase regulatory subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8926","ensembl":"ENSG00000044446","omim":"300798","loci":["Xp22.13"]},{"symbol":"PHKG2","name":"phosphorylase kinase catalytic subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8931","ensembl":"ENSG00000156873","omim":"172471","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"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":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-18","source":"29360628[PMID]_28627441[PMID]_25266922[PMID]_17689125[PMID]_33317799[PMID]_21634085[PMID]_30659246[PMID]_25266922[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410175","label":"Hyperketonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","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:0001396","label":"Cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100607","label":"Dysmenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030232","label":"Increased sarcoplasmic glycogen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012028","label":"Hepatocellular adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006580","label":"Portal fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}