ORPHA:217253
NMDA receptor encephalitis
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
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NMDA receptor encephalitis | 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 |
| fr | Encéphalite anti-NMDAr | 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 |
| de | NMDA-Rezeptor-Enzephalitis | 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 |
| es | Encefalitis del receptor NMDA | 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 |
| it | Encefalite limbica con anticorpi contro il recettore NMDA | 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 |
| nl | NMDA-receptor-encefalitis | Anti-NMDA-receptor-encefalitis · Limbische encefalitis met N-methyl-D-aspartaatreceptor-antilichamen · Limbische encefalitis met NMDA-receptor-antilichamen · N-methyl-D-aspartaatreceptor-encefalitis · NMDARE |
| pt | Encefalite recetor NMDA | 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 | Zapalenie układu limbicznego z przeciwciałami przeciwko receptorom NMDA | Zapalenie układu limbicznego z przeciwciałami przeciwko receptorom N-metylo-D-asparaginowym · Zapalenie mózgu związane z receptorem NMDA |
| cs | Limbická encefalitida s protilátkami proti NMDA receptorům | Limbická encefalitida s protilátkami proti N-methyl-D-aspartát receptorům |
| uk | NMDA-рецепторний енцефаліт | 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 |
| zh | 边缘脑炎伴NMDA受体抗体 | 边缘脑炎伴N-甲基-D-天冬氨酸受体抗体 |
| tr | NMDA reseptör antikorları ile seyreden limbik ensefalit | N-metil-D-aspartat reseptör antikorları ile seyreden limbik ensefalit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G13.1 | NTBT | attributed | validated |
| MONDO | 0021081 | E | validated | |
| MeSH | D060426 | E | validated | |
| UMLS | C5700343 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:622014Autoimmune encephalitis
rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
53 annotations · validated 2021-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032264 | Anti-NMDA receptor antibody positivity | |
| HP:0000708 | Atypical behavior | |
| HP:0032266 | CSF anti-NMDA receptor antibody positivity | |
| HP:0012229 | CSF pleocytosis | |
| HP:0001289 | Confusion | |
| HP:0002354 | Memory impairment | |
| HP:0001250 | Seizure | |
| HP:0000736 | Short attention span | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0000739 | Anxiety | |
| HP:0000746 | Delusion | |
| HP:0002014 | Diarrhea | |
| HP:0100660 | Dyskinesia | |
| HP:0011289 | EEG with temporal sharp slow waves | |
| HP:0001945 | Fever | |
| HP:0000738 | Hallucinations | |
| HP:0002315 | Headache | |
| HP:0100785 | Insomnia | |
| HP:0004305 | Involuntary movements | |
| HP:0100754 | Mania | |
| HP:0012226 | Ovarian teratoma | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0012333 | Abnormal sudomotor regulation | |
| HP:0000713 | Agitation | |
| HP:5200321 | Amplification of sexual behavior | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0031258 | Delirium | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0003781 | Excessive salivation | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0002463 | Language impairment | |
| HP:0002371 | Loss of speech | |
| HP:0002300 | Mutism | |
| HP:0001336 | Myoclonus | |
| HP:0008763 | No social interaction | |
| HP:0010553 | Oculogyric crisis | |
| HP:0002179 | Opisthotonus | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0012173 | Orthostatic tachycardia | |
| HP:0000709 | Psychosis | |
| HP:0002063 | Rigidity | |
| HP:0002133 | Status epilepticus | |
| Very rare (<4-1%) | ||
| HP:0012189 | Hodgkin lymphoma | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0100521 | Neoplasm of the thymus | |
| HP:0003006 | Neuroblastoma | |
| HP:0100616 | Testicular teratoma | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 31085562 [PMID]_26899887[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217253
- This record as JSON: /data/d/217253.json