{"orpha":371,"name":"Glycogen storage disease due to muscle phosphofructokinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to muscle phosphofructokinase deficiency","GSD type 7","GSD type VII","Glycogen storage disease type 7","Glycogen storage disease type VII","Glycogenosis due to muscle phosphofructokinase deficiency","Glycogenosis type 7","Glycogenosis type VII","Tarui disease"],"definition":"A rare form of glycogen storage disease (GSD) characterized classically by exertional fatigue and muscular exercise intolerance. It occurs typically in childhood and adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-371/","orphanet_url":"https://www.orpha.net/en/disease/detail/371","names":{"fr":{"name":"Glycogénose par déficit en phosphofructokinase musculaire","synonyms":["GSD par déficit en phosphofructokinase musculaire","GSD type 7","GSD type VII","Glycogénose type 7","Glycogénose type VII","Maladie de Tarui"],"definition":"Forme rare de maladie de stockage du glycogène (GSD) caractérisée par une fatigue à l'effort et une intolérance à l'exercice musculaire. La maladie survient généralement pendant l'enfance et l'adolescence."},"de":{"name":"Glykogenose Typ 7","synonyms":["GSD Typ 7","GSD Typ VII","GSD durch muskulären Phosphofructokinase-Mangel","Glykogen-Speicherkrankheit Typ 7","Glykogen-Speicherkrankheit Typ VII","Glykogen-Speicherkrankheit durch muskulären Phosphofructokinase-Mangel","Glykogenose Typ VII","Glykogenose durch Phosphofruktokinase-Mangel des Muskels","Tarui-Krankheit"],"definition":"Eine seltene Form der Glykogenspeicherkrankheit (GSD), die klassischerweise durch Ermüdung bei Anstrengung und Unverträglichkeit gegenüber körperlicher Betätigung gekennzeichnet ist. Sie tritt typischerweise im Kindes- und Jugendalter auf."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosfofructoquinasa muscular","synonyms":["Glucogenosis por deficiencia de fosfofructoquinasa muscular","Glucogenosis tipo 7","Glucogenosis tipo VII","Enfermedad de Tarui","Enfermedad de almacenamiento de glucógeno tipo 7","Enfermedad de almacenamiento de glucógeno tipo VII","GSD por deficiencia de fosfofructoquinasa muscular","GSD tipo 7","GSD tipo VII"],"definition":"Es una forma poco frecuente de enfermedad por almacenamiento de glucógeno (EAG) que se caracteriza clásicamente por fatiga de esfuerzo e intolerancia al ejercicio muscular. Se presenta típicamente en la infancia y la adolescencia."},"it":{"name":"Malattia da deposito di glicogeno da deficit di fosfofruttochinasi muscolare","synonyms":["GSD da deficit di fosfofruttochinasi muscolare","GSD, tipo 7","Glicogenosi da deficit di fosfofruttochinasi muscolare","Glicogenosi, tipo 7","Malattia da deposito di glicogeno, tipo 7","Malattia di Tarui"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosfofructokinase in spier","synonyms":["GSD door deficiëntie van fosfofructokinase in spier","GSD type 7","GSD type VII","Glycogeenstapelingsziekte type 7","Glycogeenstapelingsziekte type VII","Glycogenose door deficiëntie van fosfofructokinase in spier","Glycogenose type 7","Glycogenose type VII","Ziekte van Tarui"],"definition":"Een zeldzame vorm van glycogeenstapelingsziekte (GSD), klassiek gekenmerkt door vermoeidheid bij inspanning en musculaire inspanningsintolerantie. De ziekte treedt doorgaans op in de kindertijd of adolescentie."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de fosfofrutocinase muscular","synonyms":["Deficiência de fosfofrutocinase muscular","Doença de Tarui","Doença de armazenamento de glicogénio tipo 7","Glicogenose tipo 7"],"definition":"A deficiência de fosfofrutoquinase muscular (PFK) (doença de Tarui), ou doença de armazenamento de glicogénio tipo 7 (GSD7), é uma forma rara de doença de armazenamento de glicogénio caracterizada por fadiga e intolerância ao esforço muscular. Ocorre na infância."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem fosfofruktokinazy mięśniowej","synonyms":["Choroba spichrzania glikogenu typu 7","Choroba Tarui'ego","Glikogenoza spowodowana niedoborem fosfofruktokinazy mięśniowej","Glikogenoza typu 7","GSD spowodowana niedoborem fosfofruktokinazy mięśniowej","GSD typu 7"],"definition":"Niedobór fosfofruktokinazy mięśniowej (choroba Tarui) lub choroba spichrzania glikogenu typu 7 (GSD7) to rzadka postać glikogenozy, która charakteryzuje się zmęczeniem powysiłkowym i nietolerancją wysiłku. Występuje w dzieciństwie."},"cs":{"name":"Glykogenóza způsobená deficitem svalové fosfofruktokinázy","synonyms":["GSD, typ 7","GSD VII","Glykogenóza, typ 7","Glykogenóza, typ VII","Taruiova choroba","GSD způsobená deficitem svalové fosfofruktokinázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом мязової фосфофруктокінази","synonyms":["Хвороба накопичення глікогену, тип 7","Хвороба накопичення глікогену VII типу","Глікогеноз внаслідок дефіциту мязової фосфофруктокінази","Глікогеноз типу 7","Глікогеноз VII типу","GSD внаслідок дефіциту мязової фосфофруктокінази","GSD тип 7","GSD тип VII","Хвороба Таруї"],"definition":"Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood."},"zh":{"name":"肌磷酸果糖激酶缺乏所致糖原贮积病","synonyms":["肌磷酸果糖激酶缺乏所致糖原贮积病"]},"tr":{"name":"Kas fosfosfruktokinaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 7","GSD tip VII","Tarui hastalığı","Glikojenoz tip 7","Glikojenoz tip VII","Glikojen depo hastalığı tip 7","Glikojen depo hastalığı tip VII","Kas fosfofruktokinaz eksikliğine bağlı GSD","Kas fosfofruktokinaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232800","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":"1985620430"},{"source":"MONDO","code":"0009295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017926","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053241","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":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","classifications":[156,194]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PFKM","name":"phosphofructokinase, muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8877","ensembl":"ENSG00000152556","omim":"610681","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"18421897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18421897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009051","label":"Increased muscle glycogen content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null}]}}