{"orpha":71211,"name":"Neuromyelitis optica spectrum disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Devic disease","NMOSD"],"definition":"A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71211/","orphanet_url":"https://www.orpha.net/en/disease/detail/71211","names":{"fr":{"name":"Neuromyélite optique","synonyms":["Maladie de Devic","Trouble du spectre de la neuromyélite optique"],"definition":"Maladie inflammatoire rare du système nerveux central caractérisée principalement par des épisodes de neurite optique (NO) uni- ou bilatérale et une myélite aiguë."},"de":{"name":"Neuromyelitis-optica-Spektrum-Störung","synonyms":["Devic-Krankheit","NMO-Spektrum-Erkrankungen","Neuromyelitis-optica-Spektrum-Krankheit"],"definition":"Eine seltene entzündliche Erkrankung des zentralen Nervensystems, die hauptsächlich durch ein- oder beidseitige Anfälle von Sehnervenentzündung (ON) und akuter Myelitis gekennzeichnet ist."},"es":{"name":"Trastorno del espectro de la neuromielitis óptica","synonyms":["Enfermedad de Devic"],"definition":"Es una enfermedad inflamatoria poco frecuente del sistema nervioso central caracterizada principalmente por episodios de neuritis óptica (NO), uni- o bilateral, y mielitis aguda."},"it":{"name":"Spettro della neuromielite ottica","definition":"Lo spettro della neuromielite ottica (NMOSD) è una malattia infiammatoria rara del sistema nervoso centrale, caratterizzata principalmente da episodi di neurite ottica (NO) mono- o bilaterale e mielite acuta."},"nl":{"name":"Neuromyelitis optica","synonyms":["Ziekte van Devic"],"definition":"Een zeldzame inflammatoire aandoening van centraal zenuwstelsel, hoofdzakelijk gekenmerkt door aanvallen van uni- of bilaterale neuritis optica (ON) en acute myelitis."},"pt":{"name":"Espectro clínico de neuromielite óptica","synonyms":["Doença de Devic","Neuromielite óptica"],"definition":"Doença inflamatória rara do sistema nervoso central caracterizada principalmente por crises de nevrite óptica (NO) uni ou bilateral e mielite aguda."},"pl":{"name":"Zapalenie rdzenia i nerwów wzrokowych","synonyms":["Choroba Devica"]},"cs":{"name":"Spektrum onemocnění neuromyelitis optica","synonyms":["Devicova nemoc"]},"uk":{"name":"Розлади спектру оптиконейромієліту","synonyms":["Хвороба Девіча","NMOSD"],"definition":"A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis."},"zh":{"name":"视神经脊髓炎","synonyms":["Devic病"]},"tr":{"name":"Nöromiyelitis optika","synonyms":["Devic hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"G36.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8A43","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"744293382"},{"source":"MONDO","code":"0019100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009471","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027873","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6267","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077875","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":499047,"name":"Autoimmune/inflammatory optic neuropathy","classifications":[189]},{"orpha":182064,"name":"Rare neuroinflammatory or neuroimmunological disease","classifications":[181]}],"children":[{"orpha":592850,"name":"Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies","type":"Clinical subtype"},{"orpha":592856,"name":"Neuromyelitis optica spectrum disorder with anti-MOG antibodies","type":"Clinical subtype"},{"orpha":592869,"name":"Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.73,"area":"Martinique","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.054,"area":"Austria","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1877,"area":"Worldwide","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.071,"area":"Worldwide","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Austria","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"United Kingdom","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.43,"area":"United Kingdom","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Netherlands","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.063,"area":"Spain","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.89,"area":"Spain","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"Denmark","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.09,"area":"Denmark","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.079,"area":"Sweden","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.04,"area":"Sweden","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.132,"area":"Hungary","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.91,"area":"Hungary","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Australia","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Australia","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"United States","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.495,"area":"India","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.495,"area":"Canada","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"India","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.42,"area":"Japan","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Malaysia","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.94,"area":"Malaysia","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.51,"area":"Iran, Islamic Republic of","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.053,"area":"Cuba","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.52,"area":"Cuba","status":"Validated","source":"33310876[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Martinique","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.285,"area":"Costa rica","status":"Validated","source":"33310876[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.07,"area":"United States","status":"Validated","source":"33310876[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-12-01","source":"3895189[PMID]","terms":[{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012486","label":"Myelitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100653","label":"Optic neuritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033342","label":"Anti-aquaporin 4 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032492","label":"Anti-myelin oligodendrocyte glycoprotein antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100247","label":"Recurrent singultus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null}]}}