{"orpha":97234,"name":"Glycogen storage disease due to phosphoglycerate mutase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DiMauro disease","GSD due to phosphoglycerate mutase 2 deficiency","GSD type 10","Glycogen storage disease due to PGAM2 deficiency","Glycogen storage disease due to phosphoglycerate mutase 2 deficiency","Glycogen storage disease, type 10","Glycogen storage disease, type X","Glycogenosis due to phosphoglycerate mutase 2 deficiency","Muscle phosphoglycerate mutase deficiency","Myopathy due to phosphoglycerate mutase deficiency","PGAM deficiency","PGAM-M deficiency"],"definition":"A rare glycogen storage disease characterized by susceptibility to rhabdomyolysis complicated by episodes of exercise-induced muscle pain, cramping, and myoglobinuria. Tubular aggregates may be present on muscle biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97234/","orphanet_url":"https://www.orpha.net/en/disease/detail/97234","names":{"fr":{"name":"Glycogénose par déficit en phosphoglycérate mutase","synonyms":["Maladie de DiMauro","Maladie de stockage du glycogène par déficit en PGAM2","Maladie de stockage du glycogène par déficit en phosphoglycérate mutase 2","Maladie de stockage du glycogène type 10","Maladie de stockage du glycogène type X","Myopathie par déficit en phosphoglycérate mutase","Déficit en PGAM","Déficit en PGAM-M","Déficit en phosphoglycérate mutase musculaire","GSD par déficit en phosphoglycérate mutase 2","GSD type 10","Glycogénose par déficit en phosphoglycérate mutase 2"],"definition":"Maladie rare de stockage du glycogène caractérisée par une susceptibilité à la rhabdomyolyse compliquée par des épisodes de douleurs musculaires et de crampes induits par l'effort, ainsi que par une myoglobinurie. La biopsie musculaire peut révéler la présence d'agrégats tubulaires."},"de":{"name":"Glykogenose durch Phosphoglycerat-Mutase-Mangel","synonyms":["Glykogen-Speicherkrankheit Typ 10","Glykogen-Speicherkrankheit Typ X","Glykogen-Speicherkrankheit durch PGAM2-Defizienz","Glykogen-Speicherkrankheit durch Phosphoglycerat-Mutase-Mangel","Glykogenose durch Phosphoglyceratmutase 2-Mangel","Myopathie durch Phosphoglycerat-Mutase-Mangel","PGAM-M-Defizienz","PGAM-Mangel","Phosphoglycerat-Mutase-Mangel, muskulärer","DiMauro-Krankheit","GSD Typ 10","GSD durch Phosphoglyceratmutase 2-Mangel"],"definition":"Eine seltene Glykogenspeicherkrankheit, die durch eine Anfälligkeit für Rhabdomyolyse gekennzeichnet ist, die durch trainingsbedingte Muskelschmerzen, Krämpfe und Myoglobinurie kompliziert wird. In der Muskelbiopsie können tubuläre Aggregate vorhanden sein."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa","synonyms":["Deficiencia de PGAM","Deficiencia de PGAM-M","Deficiencia de fosfoglicerato mutasa muscular","Enfermedad de DiMauro","Enfermedad de almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa 2","Enfermedad de almacenamiento de glucógeno por deficiencia del gen PGAM2","Enfermedad de almacenamiento de glucógeno tipo 10","Enfermedad de almacenamiento de glucógeno tipo X","GSD por deficiencia de fosfoglicerato mutasa 2","GSD tipo 10","Glucogenosis por deficiencia de fosfoglicerato mutasa 2","Miopatía por deficiencia de fosfoglicerato mutasa"],"definition":"Es una enfermedad poco frecuente de almacenamiento de glucógeno caracterizada por susceptibilidad a la rabdomiólisis que se complica por episodios de dolor muscular, calambres y mioglobinuria inducidos por el ejercicio. La biopsia muscular puede mostrar agregados tubulares."},"it":{"name":"Malattia da deposito di glicogeno da deficit di fosfoglicerato mutasi","synonyms":["Deficit di PGAM","Deficit di PGAM-M","Deficit di fosfoglicerato mutasi muscolare","GSD da deficit di fosfoglicerato mutasi 2","GSD tipo 10","Glicogenosi da deficit di fosfoglicerato mutasi 2","Malattia da deposito di glicogeno da deficit di PGAM","Malattia da deposito di glicogeno da deficit di fosfoglicerato mutasi 2","Malattia da deposito di glicogeno, tipo 10","Malattia da deposito di glicogeno, tipo X","Malattia di DiMauro","Miopatia da deficit di fosfoglicerato mutasi"]},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatmutase","synonyms":["Deficiëntie van fosfoglyceraatmutase in spier","GSD door deficiëntie van fosfoglyceraatmutase 2","GSD type 10","GSD type X","Glycogeenstapelingsziekte door PGAM2-deficiëntie","Glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatmutase 2","Glycogeenstapelingsziekte type 10","Glycogeenstapelingsziekte type X","Glycogenose door deficiëntie van fosfoglyceraatmutase 2","Myopathie door deficiëntie van fosfoglyceraatmutase","PGAM-M-deficiëntie","PGAM-deficiëntie","Ziekte van DiMauro"],"definition":"Een zeldzame glycogeenstapelingsziekte, gekenmerkt door susceptibiliteit voor rhabdomyolyse gecompliceerd door episodes van inspanningsgeïnduceerde spierpijn, krampen, en myoglobinurie. Tubulaire aggregaten kunnen aanwezig zijn bij spierbiopsie."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de fosfoglicerato mutase","synonyms":["GSD por deficiência de fosfoglicerato mutase 2","GSD tipo 10","Glicogenose por deficiência de fosfoglicerato mutase 2","Miopatia por deficiência de fosfoglicerato mutase","Deficiência PGAM","Deficiência PGAM-M","Deficiência de fosfoglicerato mutase muscular","Doença DiMauro","Doença de armazenamento de glicogénio por deficiência de fosfoglicerato mutase 2","Doença de armazenamento de glicogénio, tipo 10","Doença de armazenamento de glicogénio, tipo X"],"definition":"Doença rara de armazenamento de glicogénio caracterizada por suscetibilidade à rabdomiólise complicada por episódios de dor muscular induzida pelo exercício, cãibras e mioglobinúria. Podem estar presentes agregados tubulares na biópsia muscular."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem mutazy fosfoglicerynianu","synonyms":["Glikogenoza z powodu niedoboru mutazy fosfoglicerynianu","GSD typu 10","GSD z powodu niedoboru mutazy fosfoglicerynianu","Miopatia z powodu niedoboru mutazy fosfoglicerynianu","Niedobór mięśniowej mutazy fosfoglicerynianu"]},"cs":{"name":"Glykogenóza způsobená deficitem fosfoglycerát mutázy","synonyms":["GSD typ 10","Deficit svalové fosfoglycerát mutázy","GSD způsobená deficitem fosfoglycerát mutázy","Myopatie způsobená deficitem fosfoglycerát mutázy"]},"uk":{"name":"Хвороба накопичення глікогену через дефіцит фосфогліцератмутази","synonyms":["Хвороба ДіМауро","Хвороба накопичення глікогену через дефіцит PGAM2","Хвороба накопичення глікогену через дефіцит фосфогліцератмутази 2","Дефіцит глікогену, тип 10","Хвороба накопичення глікогену, тип X","Глікогеноз внаслідок дефіциту фосфогліцератмутази 2","GSD внаслідок дефіциту фосфогліцератмутази 2","GSD тип 10","Дефіцит мязової фосфогліцератмутази","Міопатія внаслідок дефіциту фосфогліцератмутази","Дефіцит PGAM","Дефіцит PGAM-M"],"definition":"A rare glycogen storage disease characterized by susceptibility to rhabdomyolysis complicated by episodes of exercise-induced muscle pain, cramping, and myoglobinuria. Tubular aggregates may be present on muscle biopsy."},"zh":{"name":"磷酸甘油酸变位酶缺乏所致肌糖原贮积症","synonyms":["磷酸甘油酸变位酶缺乏所致糖原病"],"definition":"肌肉磷酸甘油酸变位酶缺乏症（PGAMD）是一种代谢性肌病，其特征是运动性痉挛、肌红蛋白尿和肌肉活检中存在管状聚集物。血清肌酸激酶（CK）水平在肌红蛋白尿发作期间升高。到目前为止，已报道病例小于50例。这种疾病是由于糖酵解最后一个步骤的异常引起的。PGAMD的酶缺陷是由PGAM的M亚型cDNA突变引起的，患者肌肉中残留的PGAM活性（2%-6%）来自B亚型的活性。该病通常为常染色体隐性遗传。鉴别诊断包括肌肉磷酸化酶缺乏症（McArdle病）和磷酸果糖激酶缺乏症（PFKD）（见该类词条）。"},"tr":{"name":"Fosfogliserat mutaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 10","Kas fosfogliserat mutaz eksikliği","Fosfogliserat mutaz eksikliğine bağlı GSD","Fosfogliserat mutaz eksikliğine bağlı miyopati","Fosfogliserat mutaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"261670","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":"357512951"},{"source":"MONDO","code":"0009865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268149","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9964","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":206959,"name":"Muscular glycogenosis","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PGAM2","name":"phosphoglycerate mutase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8889","ensembl":"ENSG00000164708","omim":"612931","loci":["7p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"34237446[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34237446[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-11","source":"19783439[PMID]_23169535[PMID]_27612597[PMID]","terms":[{"hpo":"HP:6000197","label":"Reduced muscle phosphoglycerate mutase activity","frequency":"Very frequent (99-80%)","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:0003710","label":"Exercise-induced muscle cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100301","label":"Muscle fiber tubular inclusions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008942","label":"Acute rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040129","label":"Abnormal nerve conduction velocity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null}]}}