{"orpha":57,"name":"Glycogen storage disease due to aldolase A deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to aldolase A deficiency","GSD type 12","GSD type XII","Glycogen storage disease type 12","Glycogen storage disease type XII","Glycogenosis due to aldolase A deficiency","Glycogenosis type 12","Glycogenosis type XII"],"definition":"Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-57/","orphanet_url":"https://www.orpha.net/en/disease/detail/57","names":{"fr":{"name":"Glycogénose par déficit en aldolase A musculaire","synonyms":["GSD par déficit en aldolase A musculaire","GSD type 12","GSD type XII","Glycogénose type 12","Glycogénose type XII"],"definition":"Maladie extrêmement rare de stockage du glycogène caractérisée par une anémie hémolytique avec ou sans myopathie ou déficience intellectuelle. La myopathie peut être suffisamment grave pour entraîner une rhabdomyolyse engageant le pronostic vital de certains patients. Un cas de famille présentant une rhabdomyolyse épisodique (déclenchée par la fièvre) sans anémie hémolytique a récemment été reporté."},"de":{"name":"Glykogenose Typ 12","synonyms":["GSD Typ 12","GSD Typ XII","GSD durch Aldolase A-Mangel","Glykogen-Speicherkrankheit Typ 12","Glykogen-Speicherkrankheit Typ XII","Glykogen-Speicherkrankheit durch Aldolase A-Mangel","Glykogenose Typ XII","Glykogenose durch Aldolase A-Mangel"]},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de aldolasa A","synonyms":["Glucogenosis tipo 12","Glucogenosis tipo XII","Enfermedad de almacenamiento de glucógeno tipo 12","Enfermedad de almacenamiento de glucógeno tipo XII","GSD por deficiencia de aldolasa A","GSD tipo 12","GSD tipo XII","Glucogenosis por deficiencia de aldolasa A"],"definition":"Es una enfermedad de almacenamiento de glucógeno muy poco frecuente caracterizada por anemia hemolítica asociada en ocasiones a miopatía y/o déficit intelectual. La miopatía puede ser lo suficientemente grave como para causar rabdomiólisis fatal en algunos afectados. Se ha descrito recientemente una familia con rabdomiólisis episódica (desencadenada por fiebre) sin anemia hemolítica."},"it":{"name":"Malattia da deposito di glicogeno da deficit di aldolasi A","synonyms":["GSD da deficit di aldolasi A","GSD, tipo 12","Glicogenosi da deficit di aldolasi A","Glicogenosi, tipo 12","Malattia da deposito di glicogeno, tipo 12"],"definition":"La malattia da deposito di glicogeno da deficit di aldolasi A è una malattia da deposito di glicogeno (si veda questo termine) molto rara, caratterizzata da anemia emolitica con o senza miopatia o deficit intellettivo. In alcuni pazienti, la miopatia può essere tanto grave da esitare in una rabdomiolisi letale. Recentemente, è stata descritta una famiglia con rabdomiolisi episodica (scatenata dalla febbre) in assenza di anemia emolitica."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van aldolase A","synonyms":["GSD door aldolase A-deficiëntie","GSD type 12","GSD type XII","Glycogeenstapelingsziekte type 12","Glycogeenstapelingsziekte type XII","Glycogenose door aldolase A-deficiëntie","Glycogenose type 12","Glycogenose type XII"],"definition":"Glycogeenstapelingsziekte door aldolase A-deficiëntie is een uiterst zeldzame glycogeenstapelingsziekte (zie deze term) die gekarakteriseerd wordt door hemolytische anemie met of zonder myopathie of intellectuele stoornis. De myopathie kan voldoende ernstig zijn om bij sommige patiënten te resulteren in fatale rabdomyolyse. Recent werd een familie met episodische rabdomyolyse (uitgelokt door koorts) zonder hemolytische anemie gerapporteerd."},"pt":{"name":"Doença de armazenamento de glicogénio devida a deficiência de aldolase A","synonyms":["Doença de armazenamento de glicogénio tipo 12","Doença de armazenamento de glicogénio tipo XII","GSD devida a deficiência de aldolase","GSD tipo 12","GSD tipo XII","Glicogenose devida a deficiência de aldolase A","Glicogenose tipo 12","Glicogenose tipo XII"]},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem aldolazy A","synonyms":["Choroba spichrzania glikogenu typu 12","Glikogenoza typu 12","Glikogenoza z powodu niedoboru aldolazy A","GSD typu 12","GSD z powodu niedoboru aldolazy A"]},"cs":{"name":"Glykogenóza způsobená deficitem aldolázy A","synonyms":["GSD typ 12","GSD typ XII","Glykogenóza, typ 12","Glykogenóza, typ XII","GSD způsobená deficitem aldolázy A"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом альдолази А","synonyms":["Хвороба накопичення глікогену, тип 12","Хвороба накопичення глікогену, тип XII","Глікогеноз внаслідок дефіциту альдолази А","Глікогеноз 12 типу","Глікогеноз XII типу","GSD внаслідок дефіциту альдолази А","GSD тип 12","GSD тип XII"],"definition":"Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported."},"zh":{"name":"醛缩酶A缺乏所致糖原贮积病","synonyms":["醛缩酶A缺乏所致糖原贮积病"]},"tr":{"name":"Aldolaz A eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 12","GSD tipi XII","Glikojenoz tip 12","Glikojenoz tip XII","Aldolaz A eksikliğine bağlı GSD","Glikojen depo hastalığı tip 12","Glikojen depo hastalığı tip XII","Aldolaz A eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"611881","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":"1020924235"},{"source":"MONDO","code":"0012747","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272066","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"600","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]}],"children":[],"genes":[{"symbol":"ALDOA","name":"aldolase, fructose-bisphosphate A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"414","ensembl":"ENSG00000149925","omim":"103850","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"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":"2021-06-30","source":"25778939[PMID]_14615364[PMID]_33665120[PMID]","terms":[{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012545","label":"Reduced aldolase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009045","label":"Exercise-induced rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003558","label":"Viral infection-induced rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}