{"orpha":589,"name":"Myasthenia gravis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired myasthenia","Autoimmune myasthenia gravis"],"definition":"A rare autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589/","orphanet_url":"https://www.orpha.net/en/disease/detail/589","names":{"fr":{"name":"Myasthénie auto-immune","synonyms":["Myasthenia gravis","Myasthénie acquise"],"definition":"Maladie auto-immune rare touchant la jonction neuromusculaire, caractérisée par une faiblesse des muscles volontaires accompagnée d'une fatigue."},"de":{"name":"Myasthenia gravis","synonyms":["Myasthenia gravis, autoimmune","Myasthenie, erworbene"],"definition":"Die Myasthenia gravis (MG) ist eine seltene, klinisch heterogene Autoimmunkrankheit mit Störung der neuromuskulären Reizübertragung an der motorischen Endplatte des Muskels, die durch eine belastungsabhängige Ermüdung der willkürlichen Muskeln gekennzeichnet ist."},"es":{"name":"Miastenia grave","synonyms":["Miastenia adquirida","Miastenia autoinmune","Miastenia gravis"],"definition":"La miastenia grave (MG) es un trastorno autoinmune raro, clínicamente heterogéneo, de la unión neuromuscular caracterizado por una debilidad fatigable de los músculos voluntarios."},"it":{"name":"Miastenia grave","synonyms":["Miastenia acquisita","Miastenia autoimmune grave"],"definition":"La miastenia grave (MG) è un malattia autoimmune rara delle giunzioni neuromuscolari, clinicamente eterogenea; è caratterizzata da debolezza con affaticamento dei muscoli volontari."},"nl":{"name":"Myasthenia gravis","synonyms":["Auto-immune myasthenia gravis","Verworven myasthenie"],"definition":"Myasthenia gravis (MG) is een zeldzame, klinisch heterogene, auto-immune aandoening van de neuromusculaire junctie (motorische eindplaat) die wordt gekarakteriseerd door zwakheid van skeletspieren onderhevig aan vermoeidheid."},"pt":{"name":"Miastenia gravis"},"pl":{"name":"Miastenia","synonyms":["Autoimmunologiczna miastenia gravis","Miastenia nabyta"]},"cs":{"name":"Myasthenia gravis","synonyms":["Získaná myasthenie","Autoimunitní myasthenia gravis"],"definition":"Myasthenia gravis (MG) je vzácná, klinicky heterogenní, autoimunitní porucha nervosvalového spojení vyznačující se výraznou slabostí kosterních svalů."},"uk":{"name":"Міастенія гравіс","synonyms":["Набута міастенія","Автоімунна міастенія"],"definition":"Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles."},"zh":{"name":"重症肌无力","synonyms":["自身免疫性重症肌无力"]},"tr":{"name":"Miyastenia Gravis","synonyms":["Edinsel miyasteni","Otoimmün miyastenia gravis"]}},"xrefs":[{"source":"OMIM","code":"159400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"254200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607085","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G70.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8C60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1270100227"},{"source":"MONDO","code":"0009688","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009157","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026896","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7122","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028417","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":464764,"name":"Immune-mediated acquired neuromuscular junction disease","classifications":[181]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[{"orpha":391490,"name":"Adult-onset myasthenia gravis","type":"Clinical subtype"},{"orpha":391497,"name":"Juvenile myasthenia gravis","type":"Clinical subtype"},{"orpha":391504,"name":"Transient neonatal myasthenia gravis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"United States","status":"Validated","source":"8909435[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"20130418[PMID]_[EXPERT]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"17986328[PMID]_[EXPERT]_European Medicines Agency 2018[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.77,"area":"Worldwide","status":"Validated","source":"20565885[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Canada","status":"Validated","source":"14664466[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Spain","status":"Validated","source":"12654975[PMID]"},{"type":"Lifetime Prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"United Kingdom","status":"Validated","source":"10733998[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.11,"area":"United Kingdom","status":"Validated","source":"9771771[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"United Kingdom","status":"Validated","source":"9771771[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.33,"area":"Serbia","status":"Validated","source":"23363926[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":17.0,"area":"United States","status":"Validated","source":"8909435[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":31.8,"area":"Serbia","status":"Validated","source":"23363926[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.94,"area":"Italy","status":"Validated","source":"21757957[PMID]_20623298[PMID]_ ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"Austria","status":"Validated","source":"23129486[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Australia","status":"Validated","source":"22469211[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":18.5,"area":"Italy","status":"Validated","source":"21757957[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Taiwan, Province of China","status":"Validated","source":"20523074[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.7,"area":"Australia","status":"Validated","source":"22469211[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"Greece","status":"Validated","source":"11511710[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Taiwan, Province of China","status":"Validated","source":"20523074[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"Croatia","status":"Validated","source":"9705586[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.8,"area":"Estonia","status":"Validated","source":"14638881[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"Greece","status":"Validated","source":"11511710[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.9,"area":"Croatia","status":"Validated","source":"9705586[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Egypt","status":"Validated","source":"20948236[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.53,"area":"Worldwide","status":"Validated","source":"20565885[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-19","source":"35976295[PMID]_34064035[PMID]_31048702[PMID]_1603341[PMID]_26502757[PMID]_14257395[PMID]_5329432[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000777","label":"Abnormality of the thymus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030208","label":"Acetylcholine receptor antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000881","label":"Anti-DCC netrin 1 receptor antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000048","label":"Anti-Kv1.4 antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000047","label":"Anti-ryanodine receptor antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000038","label":"Anti-titin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030197","label":"Fatigable weakness of skeletal muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030210","label":"Muscle specific kinase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030006","label":"Single fiber EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010516","label":"Thymus hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000046","label":"Anti-Lrp4 antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010780","label":"Hyperacusis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012410","label":"Pure red cell aplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}