{"orpha":217253,"name":"NMDA receptor encephalitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Limbic encephalitis with N-methyl-D-aspartate receptor antibodies","Limbic encephalitis with NMDA receptor antibodies","N-methyl-D-aspartate receptor encephalitis","NMDARE","anti-NMDA receptor encephalitis"],"definition":"A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217253/","orphanet_url":"https://www.orpha.net/en/disease/detail/217253","names":{"fr":{"name":"Encéphalite anti-NMDAr","synonyms":["Encéphalite limbique avec anticorps anti-récepteur N-méthyl-D-aspartate","Encéphalite limbique avec anticorps anti-récepteur NMDA","Encéphalite limbique à anticorps anti-NMDAr","Encéphalite à anticorps anti-récepteur au N-méthyl-D-aspartate","Encéphalite à anticorps antirécepteur NMDA","Encéphalite NMDAr"],"definition":"Encéphalite limbique rare caractérisée par la présence d'auto-anticorps dirigés contre les récepteurs NMDA dans le sérum et le liquide céphalo-rachidien. Elle peut être d'origine paranéoplasique (le plus souvent associée à un tératome ovarien) ou non paranéoplasique et mettre le pronostic vital en jeu, mais peut être traitée. Les patients présentent d'importantes modifications du comportement, une psychose et une catatonie, qui évoluent rapidement vers des crises convulsives, des troubles de la mémoire, des dyskinésies, des troubles de l'élocution et une dysrégulation du système nerveux autonome et respiratoire."},"de":{"name":"NMDA-Rezeptor-Enzephalitis","synonyms":["Anti-NMDA-Rezeptor-Enzephalitis","Limbische Enzephalitis mit NMDA-Rezeptor-Antikörpern","Limbische Enzephalitis mit assoziierten NMDA (N-Methyl-D-Aspartat)-Rezeptor-Antikörpern","N-Methyl-D-Aspartat-Rezeptor-Enzephalitis","NMDARE"],"definition":"Eine limbischen Enzephalitis, die durch das Vorhandensein von Autoantikörpern gegen NMDA-Rezeptoren in Serum und Liquor gekennzeichnet ist. Sie kann paraneoplastischen (am häufigsten in Verbindung mit Ovarialteratomen) oder nicht-paraneoplastischen Ursprungs sein und ist lebensbedrohlich, aber potenziell behandelbar. Die Patienten präsentieren sich mit akuten Verhaltensänderungen, Psychosen und Katatonie, die rasch zu Krampfanfällen, Gedächtnisstörungen, Dyskinesien, Sprachproblemen und Störungen der Autonomie und Atmung führen."},"es":{"name":"Encefalitis del receptor NMDA","synonyms":["Encefalitis anti-receptor NMDA","Encefalitis del receptor N-metil-D-aspartato","Encefalitis límbica con anticuerpos anti-receptor N-metil-D-aspartato","Encefalitis límbica con anticuerpos anti-receptor NMDA","NMDARE"],"definition":"Es una encefalitis límbica poco frecuente caracterizada por la presencia de autoanticuerpos contra los receptores NMDA en suero y en líquido cefalorraquídeo. Puede ser de origen paraneoplásico (asociado con mayor frecuencia a un teratoma ovárico) o no paraneoplásico, siendo potencialmente mortal, aunque potencialmente tratable. Los pacientes se presentan con trastorno de la conducta de inicio agudo, psicosis y catatonía, progresando rápidamente a crisis epilépticas, déficit de memoria, discinesia, trastornos del habla y disregulación autonómica y respiratoria."},"it":{"name":"Encefalite limbica con anticorpi contro il recettore NMDA","synonyms":["Encefalite correlata al recettore N-metil-D-aspartasi","Encefalite correlata al recettore anti-NMDA","Encefalite limbica associata ad anticorpi anti-recettore N-metil-D-aspartasi","Encefalite limbica associata ad anticorpi anti-recettore NMDA","NMDARE"],"definition":"Si tratta di un'encefalite limbica rara, caratterizzata dalla presenza di autoanticorpi diretti contro i recettori NMDA nel siero e nel liquido cefalorachidiano. Può avere un'origine paraneoplastica (associata per lo più al teratoma ovarico) o non-paraneoplastica ed è potenzialmente letale ma trattabile. I pazienti presentano una alterazione acuta del comportamento, piscosi, catatonia, che progrediscono rapidamente verso le crisi epilettiche, i deficit mnemonici, la discinesia, le difficoltà del linguaggio e la disregolazione del sistema autonomo e della respirazione."},"nl":{"name":"NMDA-receptor-encefalitis","synonyms":["Anti-NMDA-receptor-encefalitis","Limbische encefalitis met N-methyl-D-aspartaatreceptor-antilichamen","Limbische encefalitis met NMDA-receptor-antilichamen","N-methyl-D-aspartaatreceptor-encefalitis","NMDARE"],"definition":"Een zeldzame limbische encefalitis, gekarakteriseerd door aanwezigheid van auto-antilichamen tegen NMDA-receptoren in serum en cerebrospinaal vocht. De aandoening kan paraneoplastisch (doorgaans geassocieerd met teratoom van ovarium) of niet-paraneoplastisch van oorsprong zijn, en is levensbedreigend maar potentieel behandelbaar. Patiënten vertonen acute gedragsveranderingen, psychose, en katatonie, met snelle progressie naar insulten, geheugenproblemen, dyskinesie, spraakproblemen, autonome ontregeling en ontregeling van ademhaling."},"pt":{"name":"Encefalite recetor NMDA","synonyms":["Encefalite límbica com anticorpos recetor N-metil-D-aspartato","Encefalite límbica com anticorpos recetor NMDA","Encefalite recetor N-metil-D-aspartato","Encefalite recetor anti-NMDA","NMDARE"]},"pl":{"name":"Zapalenie układu limbicznego z przeciwciałami przeciwko receptorom NMDA","synonyms":["Zapalenie układu limbicznego z przeciwciałami przeciwko receptorom N-metylo-D-asparaginowym","Zapalenie mózgu związane z receptorem NMDA"]},"cs":{"name":"Limbická encefalitida s protilátkami proti NMDA receptorům","synonyms":["Limbická encefalitida s protilátkami proti N-methyl-D-aspartát receptorům"]},"uk":{"name":"NMDA-рецепторний енцефаліт","synonyms":["анти-NMDA-рецепторний енцефаліт","Лімбічний енцефаліт з антитілами до NMDA-рецепторів","Лімбічний енцефаліт з антитілами до N-метил-D-аспартатних рецепторів","NMDARE","N-метил-D-аспартат-рецепторний енцефаліт"],"definition":"A rare limbic encephalitis characterized by the presence of autoantibodies against NMDA receptors in serum and cerebrospinal fluid. It may be of paraneoplastic (most commonly associated with ovarian teratoma) or non-paraneoplastic origin and is life-threatening but potentially treatable. Patients present with acute behavioral change, psychosis, and catatonia, rapidly progressing to seizures, memory deficit, dyskinesias, speech problems, and autonomic and breathing dysregulation."},"zh":{"name":"边缘脑炎伴NMDA受体抗体","synonyms":["边缘脑炎伴N-甲基-D-天冬氨酸受体抗体"],"definition":"一种罕见的边缘叶脑炎，其特征是血清和脑脊液中存在抗NMDA受体的自身抗体。它可能是副肿瘤起源（最常与卵巢畸胎瘤相关）或非副肿瘤起源，会威胁生命，但有治疗可能。患者表现为急性行为改变、精神病和紧张症，可迅速发展为癫痫发作、记忆力减退、运动障碍、言语问题以及自主功能和呼吸调节障碍。"},"tr":{"name":"NMDA reseptör antikorları ile seyreden limbik ensefalit","synonyms":["N-metil-D-aspartat reseptör antikorları ile seyreden limbik ensefalit"]}},"xrefs":[{"source":"ICD-10","code":"G13.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0021081","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D060426","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":622014,"name":"Autoimmune encephalitis","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"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":"2021-12-09","source":"31085562 [PMID]_26899887[PMID]","terms":[{"hpo":"HP:0032264","label":"Anti-NMDA receptor antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032266","label":"CSF anti-NMDA receptor antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011289","label":"EEG with temporal sharp slow waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100754","label":"Mania","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012226","label":"Ovarian teratoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012333","label":"Abnormal sudomotor regulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5200321","label":"Amplification of sexual behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008763","label":"No social interaction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010553","label":"Oculogyric crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002179","label":"Opisthotonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002310","label":"Orofacial dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012173","label":"Orthostatic tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100521","label":"Neoplasm of the thymus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100616","label":"Testicular teratoma","frequency":"Very rare (<4-1%)","criteria":null}]}}