{"orpha":34587,"name":"Danon disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to LAMP-2 deficiency","GSD, type 2B","GSD, type IIb","Glycogen storage disease due to LAMP-2 deficiency","Glycogen storage disease, type 2B","Glycogen storage disease, type IIb","Glycogenosis due to LAMP-2 deficiency","Lysosomal glycogen storage disease with normal acid maltase activity"],"definition":"A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34587/","orphanet_url":"https://www.orpha.net/en/disease/detail/34587","names":{"fr":{"name":"Maladie de Danon","synonyms":["GSD type 2B","GSD type IIb","Glycogénose lysosomale à activité maltase acide normale","Glycogénose par déficit en LAMP-2","Glycogénose type 2B","Glycogénose type IIb"],"definition":"Maladie génétique rare liée à l'X par déficit en lysosomal-associated membrane protein&nbsp;2 (LAMP2) caractérisée par une cardiomyopathie sévère et une faiblesse musculaire de degrés variables, fréquemment associées à une déficience intellectuelle (chez les hommes)."},"de":{"name":"Danon-Krankheit","synonyms":["Glykogen-Speicherkrankheit Typ 2B","Glykogen-Speicherkrankheit Typ IIb","Glykogen-Speicherkrankheit durch LAMP-2-Defizienz","Glykogenose Typ IIb","Glykogenose durch LAMP-2-Mangel","Lysosomale Glykogen-Speicherkrankheit mit normaler saure Maltase-Aktivität"],"definition":"Eine seltene X-chromosomale genetische Erkrankung, die auf einen Mangel des lysosomal-assoziierten Membranproteins 2 (LAMP2) zurückzuführen ist. Sie ist gekennzeichnet durch schwere Kardiomyopathie und Muskelschwäche unterschiedlichen Ausmaßes, häufig in Verbindung mit intellektuellen Defiziten (bei Männern)."},"es":{"name":"Enfermedad de Danon","synonyms":["Enfermedad de almacenamiento de glucógeno por deficiencia de LAMP-2","Enfermedad de almacenamiento de glucógeno tipo 2B","Enfermedad de almacenamiento de glucógeno tipo IIb","Enfermedad de depósito de glucógeno por deficiencia de LAMP-2","Enfermedad de depósito lisosomal de glucógeno con actividad normal de maltasa ácida","GSD por deficiencia de LAMP-2","GSD tipo 2B","GSD tipo IIb","Glucogenosis por deficiencia de LAMP-2"],"definition":"Es un trastorno genético poco frecuente ligado al cromosoma X por deficiencia de la proteína de membrana asociada al lisosoma 2 (LAMP2), caracterizado por miocardiopatía grave y grados variables de debilidad muscular frecuentemente asociada a déficit intelectual (en varones)."},"it":{"name":"Malattia di Danon","synonyms":["GSD da deficit di LAMP2","GSD, tipo 2B","GSD, tipo IIb","Glicogenosi da deficit di LAMP2","Malattia da accumulo di glicogeno da deficit di LAMP-2","Malattia da accumulo di glicogeno, tipo 2B","Malattia da accumulo di glicogeno, tipo IIb","Malattia da accumulo lisosomiale di glicogeno con attività normale della maltasi acida"]},"nl":{"name":"Ziekte van Danon","synonyms":["GSD door deficiëntie van LAMP-2","GSD type 2B","GSD type IIb","Glycogeenstapelingsziekte door deficiëntie van LAMP-2","Glycogeenstapelingsziekte type 2B","Glycogeenstapelingsziekte type IIb","Glycogenose door deficiëntie van LAMP-2","Lysosomale glycogeenstapelingsziekte met normale activiteit van zure maltase"],"definition":"Een zeldzame X-gebonden genetische aandoening door deficiëntie van lysosomaal geassocieerd membraanproteïne 2 (LAMP2), gekenmerkt door ernstige cardiomyopathie en variabele gradaties van spierzwakte, vaak geassocieerd met intellectuele achterstand (bij mannen)."},"pt":{"name":"Doença Danon","synonyms":["Doença de Danon","Doença de armazenamento de glicogénio lisossomal com atividade normal da maltase ácida","Doença de armazenamento de glicogénio por deficiência de LAMP-2","Doença de armazenamento de glicogénio, tipo 2B","Doença de armazenamento de glicogénio, tipo IIb","GSD por deficiência de LAMP-2","GSD, tipo 2B","GSD, tipo IIb","Glicogenose por deficiência de LAMP-2"],"definition":"Doença genética rara ligada ao cromossoma X devido à deficiência da proteína de membrana associada ao lisossoma 2 (LAMP2), caracterizada por cardiomiopatia grave e graus variáveis de fraqueza muscular, frequentemente associada a défices intelectuais (em individuos masculinos)."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru LAMP-2","synonyms":["Choroba Danona","Choroba spichrzania glikogenu z prawidłowym poziomem kwaśnej maltazy","Glikogenoza z powodu niedoboru LAMP-2","GSD z powodu niedoboru LAMP-2"]},"cs":{"name":"Glykogenóza způsobená deficitem LAMP2","synonyms":["Danonova nemoc","Lysosomální glykogenóza s normální aktivitou kyselé maltázy","GSD způsobená deficitem LAMP2"]},"uk":{"name":"Хвороба Данона","synonyms":["Хвороба накопичення глікогену через дефіцит LAMP-2","Глікогенова хвороба, тип 2B","Глікогенова хвороба, тип IIb","Глікогеноз внаслідок дефіциту LAMP-2","GSD через дефіцит LAMP-2","GSD, тип 2B","GSD, тип IIb","Лізосомальна хвороба накопичення глікогену з нормальною активністю кислої мальтази"],"definition":"A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males)."},"zh":{"name":"LAMP2缺乏所致糖原贮积病","synonyms":["肝糖原贮积病伴正常酸性麦芽糖活性"]},"tr":{"name":"LAMP-2 eksikliğine bağlı glikojen depo hastalığı","synonyms":["Danon hastalığı","LAMP-2 eksikliğine bağlı GSD","LAMP-2 eksikliğine bağlı glikojenoz","Normal asit maltaz aktivitesi ile seyreden lizozomal glikojen depo hastalığı"]}},"xrefs":[{"source":"OMIM","code":"300257","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":"331119306"},{"source":"MONDO","code":"0010281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0878677","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9730","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":217607,"name":"Familial dilated cardiomyopathy","classifications":[146,156]},{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]},{"orpha":217572,"name":"Glycogen storage disease with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":309337,"name":"Lysosomal glycogen storage disease","classifications":[150,156]},{"orpha":206959,"name":"Muscular glycogenosis","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LAMP2","name":"lysosome associated membrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6501","ensembl":"ENSG00000005893","omim":"309060","loci":["Xq24"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":84.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Sweden","status":"Validated","source":"25274184[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-02-04","source":"41121270[PMID]_31424795[PMID]_31424795[PMID]","terms":[{"hpo":"HP:0006543","label":"Cardiorespiratory arrest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Very rare (<4-1%)","criteria":null}]}}