{"orpha":79240,"name":"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to liver and muscle phosphorylase kinase deficiency","GSD type 9B","GSD type IXb","Glycogen storage disease type 9B","Glycogen storage disease type IXb","Glycogenosis due to liver and muscle phosphorylase kinase deficiency","Glycogenosis type 9B","Glycogenosis type IXb"],"definition":"A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79240/","orphanet_url":"https://www.orpha.net/en/disease/detail/79240","names":{"fr":{"name":"Glycogénose par déficit en phosphorylase kinase hépatique et musculaire","synonyms":["GSD par déficit en phosphorylase kinase hépatique et musculaire","GSD type 9B","GSD type IXb","Glycogénose type 9B","Glycogénose type IXb"],"definition":"La glycogénose par déficit en phosphorylase kinase (PhK) hépatique et musculaire est une erreur innée du métabolisme du glycogène. C'est la forme la plus atténuée de glycogénose par déficit en PhK."},"de":{"name":"Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel","synonyms":["GSD Typ 9B","GSD Typ IXb","GSD durch Leber- und Muskel-PhK-Mangel","Glykogen-Speicherkrankheit durch Leber- und Muskel-Phosphorylasekinase-Mangel","Glykogenose Typ 9B"],"definition":"Die Glykogenspeicherkrankheit (GSD) durch Leber- und Muskel-Phosphorylasekinase (PhK)-Mangel ist ein benigner angeborener Enzymdefekt im Stoffwechsel des Glykogens. Es ist die leichteste Form der GSD durch PhK-Mangel (s. dort)."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosforilasa quinasa hepática y muscular","synonyms":["Enfermedad de almacenamiento de glucógeno tipo 9B","Enfermedad de almacenamiento de glucógeno tipo IXb","GSD por deficiencia de fosforilasa quinasa hepática y muscular","GSD tipo 9B","GSD tipo Ixb","Glucogenosis por deficiencia de fosforilasa quinasa hepática y muscular","Glucogenosis tipo 9B","Glucogenosis tipo IXb"],"definition":"Es un error congénito benigno del metabolismo del glucógeno. Es la forma más leve de las enfermedades de almacenamiento de glucógeno (EAG) por déficit de PhK"},"it":{"name":"Glicogenosi da deficit di fosforilasi chinasi epatica e muscolare","synonyms":["GSD da deficit di fosforilasi chinasi epatica e muscolare","GSD, tipo 9B","GSD, tipo IXb","Glicogenosi, tipo 9B","Glicogenosi, tipo IXb","Malattia da deposito di glicogeno da deficit di fosforilasi chinasi epatica e muscolare","Malattia da deposito di glicogeno, tipo 9B","Malattia da deposito di glicogeno, tipo IXb"]},"nl":{"name":"Glycogeenstapelingsziekte door fosforylasekinasedeficiëntie in lever en spier","synonyms":["GSD door fosforylasekinasedeficiëntie in lever en spier","GSD type 9B","GSD type IXb","Glycogeenstapelingsziekte type 9B","Glycogeenstapelingsziekte type IXb","Glycogenose door fosforylasekinasedeficiëntie in lever en spier","Glycogenose type 9B","Glycogenose type IXb"],"definition":"Een goedaardig, aangeboren defect van het glycogeenmetabolisme. Het is de mildste vorm van GSD door FK-deficiëntie."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência em miofosforilase quinase","synonyms":["Doença de armazenamento de glicogénio tipo 9B","Glicogenose tipo 9B"],"definition":"A doença de armazenamento de glicogénio por deficiência fosforilase quinase hepática e muscular (PHK) é um erro inato benigno do metabolismo do glicogénio. É a forma mais ligeira de GSD por deficiência de PhK (ver este termo)."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru kinazy fosforylazy wątrobowej i mięśniowej","synonyms":["Choroba spichrzania glikogenu typu 9B","Choroba spichrzania glikogenu typu IXb","Glikogenoza typu 9B","Glikogenoza typu IXb","Glikogenoza z powodu niedoboru kinazy fosforylazy wątrobowej i mięśniowej","GSD typu 9B","GSD typu IXb","GSD z powodu niedoboru kinazy fosforylazy wątrobowej i mięśniowej"]},"cs":{"name":"Glykogenóza způsobená deficitem jaterní a svalové fosforylázakinázy","synonyms":["GSD typ 9B","GSD typ IXb","Glykogenóza, typ 9B","Glykogenóza, typ IXb","Glykogenóza typ, IXb","GSD způsobená deficitem jaterní a svalové fosforylázakinázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом фосфорилазної кінази печінки та мязів","synonyms":["Хвороба накопичення глікогену, тип 9B","Глікогенова хвороба, тип IXb","Глікогеноз внаслідок дефіциту фосфорилазної кінази печінки та мязів","Глікогеноз типу 9B","Глікогеноз типу IXb","GSD внаслідок дефіциту печінкової та мязової фосфорилазної кінази","GSD тип 9B","GSD типу IXb"],"definition":"A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency."},"zh":{"name":"肝和肌肉磷酸化激酶缺乏所致糖原贮积症","synonyms":["肝和肌肉磷酸化激酶缺乏所致糖原病"]},"tr":{"name":"Karaciğer ve kas fosforilaz kinaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tipi 9B","GSD tipi IXb","Glikojenoz tip 9B","Glikojenoz tip IXb","Glikojen depo hastalığı tip 9B","Glikojen depo hastalığı tip IXb","Karaciğer ve kas fosforilaz kinaz eksikliğine bağlı GSD","Karaciğer ve kas fosforilaz kinaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"261750","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":"2089330573"},{"source":"MONDO","code":"0009868","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0543514","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":206959,"name":"Muscular glycogenosis","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"PHKB","name":"phosphorylase kinase regulatory subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8927","ensembl":"ENSG00000102893","omim":"172490","loci":["16q12.1"]}],"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"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-05","source":"33317799[PMID]_21634085[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","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:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","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:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012734","label":"Ketotic hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","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:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","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:0001988","label":"Recurrent hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001947","label":"Renal tubular acidosis","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:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012028","label":"Hepatocellular adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","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:0002913","label":"Myoglobinuria","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:0003201","label":"Rhabdomyolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}