{"orpha":365,"name":"Glycogen storage disease due to acid maltase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-1,4-glucosidase acid deficiency","GSD due to acid maltase deficiency","GSD type 2","GSD type II","Glycogen storage disease type 2","Glycogen storage disease type II","Glycogenosis due to acid maltase deficiency","Glycogenosis type 2","Glycogenosis type II","Pompe disease"],"definition":"A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-365/","orphanet_url":"https://www.orpha.net/en/disease/detail/365","names":{"fr":{"name":"Glycogénose par déficit en maltase acide","synonyms":["Déficit en alpha-1,4-glucosidase acide","GSD type II","Glycogénose type 2","Glycogénose type II","Maladie de Pompe"],"definition":"Maladie rare de stockage du glycogène caractérisée par une accumulation intra-lysosomale de glycogène, en particulier dans les muscles squelettiques, cardiaques et respiratoires, ainsi que dans le foie et le système nerveux, en raison d'un déficit en maltase acide. Le spectre clinique comprend les maladies infantiles avec une cardiomyopathie hypertrophique grave, une faiblesse musculaire généralisée, une mauvaise alimentation et retard de croissance et une insuffisance respiratoire, ainsi que des maladies tardives, se manifestant avant ou après l'âge de 12 mois sans cardiomyopathie, avec faiblesse musculaire proximale et une insuffisance respiratoire."},"de":{"name":"Glykogenose Typ 2","synonyms":["Alpha-1,4-Glukosidase-Mangel","GSD Typ 2","GSD Typ II","GSD durch Saure-Maltase-Mangel","Glykogen-Speicherkrankheit Typ 2","Glykogen-Speicherkrankheit Typ II","Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel","Glykogenose Typ II","Glykogenose durch Saure-Maltase-Mangel","Pompe-Krankheit"],"definition":"Eine seltene lysosomale Speicherkrankheit, die durch eine lysosomale Anhäufung von Glykogen gekennzeichnet ist, insbesondere in der Skelett-, Herz- und Atemmuskulatur sowie in der Leber und im Nervensystem, bedingt durch einen Mangel an saurer Maltase. Das klinische Spektrum umfasst eine Erkrankung im Säuglingsalter mit schwerer hypertropher Kardiomyopathie, allgemeiner Muskelschwäche, schlechter Nahrungsaufnahme, Gedeihstörung und respiratorischer Insuffizienz sowie eine Erkrankung im Spätstadium, die sich vor oder nach dem zwölften Lebensmonat ohne Kardiomyopathie manifestiert und eine proximale Muskelschwäche und respiratorische Insuffizienz aufweist."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de maltasa ácida","synonyms":["Deficiencia de alfa-1,4-glucosidasa ácida","Enfermedad de Pompe","Enfermedad de almacenamiento de glucógeno tipo 2","Enfermedad de almacenamiento de glucógeno tipo II","GSD por deficiencia de maltasa ácida","GSD tipo 2","GSD tipo II","Glucogenosis por deficiencia de maltasa ácida","Glucogenosis tipo 2","Glucogenosis tipo II"],"definition":"Es una enfermedad de almacenamiento lisosomal poco frecuente caracterizada por el acúmulo lisosomal de glucógeno, particularmente en el músculo esquelético, cardíaco y respiratorio, así como en el hígado y el sistema nervioso, debido a la deficiencia de maltasa ácida. El espectro clínico comprende desde un debut durante la lactancia con miocardiopatía hipertrófica grave, debilidad muscular generalizada, problemas de la alimentación y fallo de medro e insuficiencia respiratoria, a un debut tardío que se manifiesta antes o después de los doce meses de edad sin cardiomiopatía, con debilidad muscular proximal y con insuficiencia respiratoria."},"it":{"name":"Malattia da deposito di glicogeno da deficit di maltasi acida","synonyms":["Deficit di alfa-1,4-glucosidasi acida","GSD da deficit di maltasi acida","GSD, tipo 2","Glicogenosi, tipo 2","Malattia da deposito di glicogeno, tipo 2","Malattia di Pompe"],"definition":"Si tratta di una malattia rara da accumulo lisosomiale, caratterizzata da depositi di glicogeno nei lisosomi, localizzati soprattutto nei muscoli scheletrici e respiratori, e nel cuore, ma anche nel fegato e nel sistema nervoso. La malattia è causata da un deficit della maltasi acida e comprende la forma ad esordio infantile, caratterizzata da cardiomiopatia ipertrofica grave, debolezza muscolare generalizzata, difficoltà di alimentazione, ritardo della crescita e insufficienza respiratoria, e la forma ad esordio tardivo, che si manifesta prima o dopo l'anno di vita, in assenza di cardiomiopatia, con debolezza dei muscoli prossimali e insufficienza respiratoria."},"nl":{"name":"Glycogeenstapelingsziekte door zure-maltasedeficiëntie","synonyms":["Deficiëntie van zure alfa-1,4-glucosidase","GSD door zure-maltasedeficiëntie","GSD type 2","GSD type II","Glycogeenstapelingsziekte type 2","Glycogeenstapelingsziekte type II","Glycogenose door zure-maltasedeficiëntie","Glycogenose type 2","Glycogenose type II","Ziekte van Pompe"],"definition":"Een zeldzame lysosomale stapelingsziekte, gekarakteriseerd door lysosomale accumulatie van glycogeen, vooral in skelet-, hart-, en ademhalingsspieren, maar ook in lever en zenuwstelsel, als gevolg van deficiëntie van zure maltase. Het klinische spectrum omvat infantiel aanvangende ziekte met ernstige hypertrofische cardiomyopathie, gegeneraliseerde spierzwakte, voedingsproblemen en groeifalen, en respiratoire insufficiëntie, en laat aanvangende ziekte die zich manifesteert voor of na de leeftijd van twaalf maanden zonder cardiomyopathie maar met proximale spierzwakte en respiratoir insufficiëntie."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de maltase ácida","synonyms":["Deficiência de alfa-1,4-glucosidase ácida","Deficiência de maltase ácida","Doença de Pompe","Doença de armazenamento de glicogénio tipo 2","GSD tipo 2","GSD tipo II","Glicogenose por deficiência de maltase ácida","Glicogenose tipo 2","Glicogenose tipo II"],"definition":"A doença de armazenamento de glicogénio tipo 2 ( GSD II ) é uma doença de armazenamento lisossómico que afecta particularmente os músculos esqueléticos e respiratórios, com variados graus de gravidade, e que, na forma infantil, está associado a cardiomiopatia hipertrófica."},"pl":{"name":"Choroba spichrzania glikogenu spowodowana niedoborem kwaśnej maltazy","synonyms":["Niedobór kwaśnej alfa-1,4-glukozydazy","Choroba Pompego","Choroba spichrzania glikogenu typu 2","Glikogenoza spowodowana niedoborem kwaśnej maltazy","Glikogenoza typu 2","GSD spowodowana niedoborem kwaśnej maltazy","GSD typu 2"],"definition":"Rzadka lizosomalna choroba spichrzeniowa, charakteryzująca się gromadzeniem glikogenu w lizosomach, szczególnie w mięśniach szkieletowych, sercu i mięśniach oddechowych, a także w wątrobie i układzie nerwowym, wskutek niedoboru kwaśnej maltazy. Spektrum kliniczne obejmuje chorobę o początku w wieku dziecięcym z ciężką kardiomiopatią przerostową, uogólnionym osłabieniem mięśni, nieprawidłowym odżywianiem i brakiem prawidłowego rozwoju oraz niewydolnością oddechową oraz chorobę o późnym początku przed lub po dwunastym miesiącu życia bez kardiomiopatii, z osłabieniem mięśni proksymalnych i niewydolnością oddechową."},"cs":{"name":"Glykogenóza způsobená deficitem kyselé maltázy","synonyms":["Deficit lysosomální alfa-1,4-glukosidázy","GSD typ 2","GSD II","Glykogenóza, typ 2","Glykogenóza, typ II","Glykogenóza II. typu","Pompeho choroba","Deficit kyselé maltázy","GSD způsobená deficitem kyselé maltázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом кислої мальтази","synonyms":["Дефіцит кислої альфа-1,4-глюкозидазної","Глікогенова хвороба 2-го типу","Хвороба накопичення глікогену II типу","Глікогеноз внаслідок дефіциту кислої мальтази","Глікогеноз 2 типу","Глікогеноз II типу","GSD внаслідок дефіциту кислої мальтази","GSD тип 2","GSD тип II","Хвороба Помпе"],"definition":"A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency."},"zh":{"name":"酸性麦芽糖酶缺乏所致糖原贮积病","synonyms":["α-1，4-葡糖苷酶缺乏症"]},"tr":{"name":"Asit maltaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["GSD tip 2","GSD tip II","Pompe hastalığı","Glikojenoz tip 2","Glikojenoz tip II","Glikojen depo hastalığı tip 2","Glikojen depo hastalığı tip II","Asit maltaz eksikliğine bağlı GSD","Alfa-1,4-glukozidaz asit eksikliği","Asit maltaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"232300","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":"1427054474"},{"source":"MONDO","code":"0009290","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017921","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5714","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053185","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":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":217581,"name":"Lysosomal disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":217638,"name":"Lysosomal disease with restrictive cardiomyopathy","classifications":[146,156,233]},{"orpha":309337,"name":"Lysosomal glycogen storage disease","classifications":[150,156]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]}],"children":[{"orpha":308552,"name":"Glycogen storage disease due to acid maltase deficiency, infantile onset","type":"Clinical subtype"},{"orpha":420429,"name":"Glycogen storage disease due to acid maltase deficiency, late-onset","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GAA","name":"alpha glucosidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4065","ensembl":"ENSG00000171298","omim":"606800","loci":["17q25.3"],"via":{"orpha":308552,"name":"Glycogen storage disease due to acid maltase deficiency, infantile onset"}},{"symbol":"GAA","name":"alpha glucosidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4065","ensembl":"ENSG00000171298","omim":"606800","loci":["17q25.3"],"via":{"orpha":420429,"name":"Glycogen storage disease due to acid maltase deficiency, late-onset"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.83,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.25,"area":"Netherlands","status":"Validated","source":"10480370[PMID]_10482961[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.37,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.5,"area":"Austria","status":"Validated","source":"22133539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"United States","status":"Validated","source":"9738873[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.68,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"China","status":"Validated","source":"3106710[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"Sweden","status":"Validated","source":"25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Israel","status":"Validated","source":"33239050[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Specific population","status":"Validated","source":"33239050[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-19","source":"20301438[PMID]_33458579[PMID]_34156025[PMID]_17190962[PMID]_30117059[PMID]","terms":[{"hpo":"HP:0034932","label":"Decreased circulating acid maltase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","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:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030231","label":"Glycogen accumulation in muscle fiber lysosomes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000062","label":"Abnormal internal carotid artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031310","label":"Basilar artery calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009113","label":"Diaphragmatic weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030196","label":"Fatigable weakness of respiratory muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005165","label":"Shortened PR interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012727","label":"Thoracic aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Very rare (<4-1%)","criteria":null}]}}