{"orpha":715,"name":"Glycogen storage disease due to muscle phosphorylase kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to muscle phosphorylase kinase deficiency","GSD type 9D","GSD type 9E","GSD type IXd","GSD type IXe","Glycogen storage disease type 9D","Glycogen storage disease type 9E","Glycogen storage disease type IXd","Glycogen storage disease type IXe","Glycogenosis due to muscle phosphorylase kinase deficiency","Glycogenosis type 9D","Glycogenosis type 9E","Glycogenosis type IXd","Glycogenosis type IXe"],"definition":"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-715/","orphanet_url":"https://www.orpha.net/en/disease/detail/715","names":{"fr":{"name":"Glycogénose par déficit en phosphorylase kinase musculaire","synonyms":["GSD par déficit en phosphorylase kinase musculaire","GSD type 9D","GSD type 9E","GSD type IXd","GSD type IXe","Glycogénose type 9D","Glycogénose type 9E","Glycogénose type IXd","Glycogénose type IXe"],"definition":"La glycogénose par déficit en phosphorylase kinase (PhK) musculaire est une erreur innée du métabolisme du glycogène qui est bénigne, caractérisée par une intolérance à l'effort."},"de":{"name":"Glykogenose durch muskulären Phosphorylasekinase-Mangel","synonyms":["GSD Typ 9D","GSD Typ 9E","GSD Typ IXD","GSD Typ IXE","GSD durch muskulären Phosphorylasekinase-Mangel","Glykogen-Speicherkrankheit Typ 9D","Glykogen-Speicherkrankheit Typ 9E","Glykogen-Speicherkrankheit durch muskulären Phosphorylasekinase-Mangel","Glykogenose Typ 9D","Glykogenose Typ 9E","Glykogenose Typ IXd","Glykogenose Typ IXe"],"definition":"Die Glykogenspeicherkrankheit (GSD) durch Muskel-Phosphoylasekinase (PhK)-Mangel, ein benigner angeborener Enzymdefekt im Stoffwechsel des Glykogens, ist gekennzeichnet durch Belastungsintoleranz."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosforilasa quinasa muscular","synonyms":["Enfermedad de almacenamiento de glucógeno tipo 9D","Enfermedad de almacenamiento de glucógeno tipo 9E","Enfermedad de almacenamiento de glucógeno tipo IXd","Enfermedad de almacenamiento de glucógeno tipo IXe","GSD por deficiencia de fosforilasa quinasa muscular","GSD tipo 9D","GSD tipo 9E","GSD tipo IXd","GSD tipo IXe","Glucogenosis por deficiencia de fosforilasa quinasa muscular","Glucogenosis tipo 9D","Glucogenosis tipo 9E","Glucogenosis tipo IXd","Glucogenosis tipo IXe"],"definition":"La enfermedad de almacenamiento de glucógeno por déficit de fosforilasa quinasa (PhK) muscular es un error congénito benigno del metabolismo del glucógeno, caracterizada por la intolerancia al ejercicio."},"it":{"name":"Glicogenosi da deficit di fosforilasi chinasi muscolare","synonyms":["GSD da deficit di fosforilasi chinasi muscolare","GSD, tipo 9D","GSD, tipo 9E","GSD, tipo IXd","GSD, tipo IXe","Glicogenosi, tipo 9D","Glicogenosi, tipo 9E","Glicogenosi, tipo IXd","Glicogenosi, tipo IXe","Malattia da deposito di glicogeno da deficit di fosforilasi chinasi muscolare","Malattia da deposito di glicogeno, tipo 9D","Malattia da deposito di glicogeno, tipo 9E","Malattia da deposito di glicogeno, tipo IXd","Malattia da deposito di glicogeno, tipo IXe"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosforylasekinase in spier","synonyms":["GSD door deficiëntie van fosforylasekinase in spier","GSD type 9D","GSD type 9E","GSD type IXd","GSD type IXe","Glycogeenstapelingsziekte type 9D","Glycogeenstapelingsziekte type 9E","Glycogeenstapelingsziekte type IXd","Glycogeenstapelingsziekte type IXe","Glycogenose door deficiëntie van fosforylasekinase in spier","Glycogenose type 9D","Glycogenose type 9E","Glycogenose type IXd","Glycogenose type IXe"],"definition":"Glycogeenstapelingsziekte (GSD) door fosforylasekinase (FK)-deficiëntie in de spier is een goedaardige aangeboren afwijking van het glycogeenmetabolisme en wordt gekenmerkt door inspanningsintolerantie."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de fosforilase cinase muscular","synonyms":["Glicogenose por deficiência de fosforilase cinase muscular","Glicogenose tipo 9D","Glicogenose tipo 9E"],"definition":"A doença de armazenamento de glicogénio por deficiência da fosforilase quinase (PHK) muscular é um erro inato do metabolismo do glicogénio benigno caracterizada por intolerância ao exercício."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem kinazy fosforylazy mięśniowej","synonyms":["Choroba spichrzania glikogenu typu 9D","Choroba spichrzania glikogenu typu 9E","Choroba spichrzania glikogenu typu IXd","Choroba spichrzania glikogenu typu IXe","Glikogenoza spowodowana niedoborem kinazy fosforylazy mięśniowej","Glikogenoza typu 9D","Glikogenoza typu 9E","Glikogenoza typu IXd","Glikogenoza typu IXe","GSD spowodowana niedoborem kinazy fosforylazy mięśniowej","GSD typu 9D","GSD typu 9E","GSD typu IXd","GSD typu IXe"]},"cs":{"name":"Glykogenóza způsobená deficitem svalové fosforyláza-kinázy","synonyms":["GSD typ 9D","GSD typ 9E","GSD typ Ixd","GSD typ Ixe","Glykogenóza, typ 9D","Glykogenóza, typ 9E","Glykogenóza, typ IXd","Glykogenóza, typ IXe","GSD způsobená deficitem svalové fosforyláza-kinázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом мязової фосфорилазної кінази","synonyms":["Хвороба накопичення глікогену, тип 9D","Хвороба накопичення глікогену, тип 9E","Глікогенова хвороба, тип IXd","Глікогенова хвороба, тип IXe","Глікогеноз внаслідок дефіциту мязової фосфорилазної кінази","Глікогеноз типу 9D","Глікогеноз типу 9Е","Глікогеноз типу IXd","Глікогеноз типу IXe","GSD внаслідок дефіциту мязової фосфорилазної кінази","GSD тип 9D","GSD тип 9E","GSD типу IXd","GSD типу IXe"],"definition":"Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance."},"zh":{"name":"肌肉磷酸化酶激酶缺乏所致糖原贮积病","synonyms":["肌肉磷酸化酶激酶缺乏所致糖原贮积病"]},"tr":{"name":"Kas fosforilaz kinaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 9D","GSD tip 9E","GSD tip IXd","GSD tip IXe","Glikojenoz tip 9D","Glikojenoz tip 9E","Glikojenoz tip IXd","Glikojenoz tip IXe","Glikojen depo hastalığı tip 9D","Glikojen depo hastalığı tip 9E","Glikojen depo hastalığı tip IXd","Glikojen depo hastalığı tip IXe","Kas fosforilaz kinaz eksikliğine bağlı GSD","Kas fosforilaz kinaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"300559","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":"273845529"},{"source":"MONDO","code":"0010362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564485","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845151","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3858","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]}],"children":[],"genes":[{"symbol":"PHKG1","name":"phosphorylase kinase catalytic subunit gamma 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"8930","ensembl":"ENSG00000164776","omim":"172470","loci":["7p11.2"]},{"symbol":"PHKA1","name":"phosphorylase kinase regulatory subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8925","ensembl":"ENSG00000067177","omim":"311870","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"2024-10-30","source":"36034300[PMID]_21634085[PMID]","terms":[{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009051","label":"Increased muscle glycogen content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000198","label":"Reduced muscle phosphorylase kinase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}