{"orpha":1930,"name":"Herpes simplex virus encephalitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HSE","HSV encephalitis","HSVE","Herpes simplex meningo-encephalitis","Herpes simplex neuroinvasion","Herpetic encephalitis"],"definition":"A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1930/","orphanet_url":"https://www.orpha.net/en/disease/detail/1930","names":{"fr":{"name":"Encéphalite à herpes simplex","synonyms":["Encéphalite herpétique","Encéphalite à HSV","Méningo-encéphalite à herpes simplex","Neuro-invasion par le virus de l'herpès"],"definition":"Maladie rare causée par une infection du système nerveux central par le virus herpes simplex (HSV) dont l'évolution clinique peut être dévastatrice et l'issue potentiellement létale, en particulier en cas de retard ou d'absence de traitement. La maladie touche souvent les lobes frontaux et temporaux, généralement de manière asymétrique, entraînant des troubles du comportement, des troubles cognitifs, une aphasie, des crises d'épilepsie et une faiblesse focale."},"de":{"name":"Herpes-simplex-Enzephalitis","synonyms":["HSE","HSV-Enzephalitis","HSVE","Herpes simplex-Meningoenzephalitis","Herpes simplex-Neuroinvasion","Herpesenzephalitis","Herpetische Enzephalitis"]},"es":{"name":"Encefalitis por el virus del herpes simple","synonyms":["Encefalitis herpética","Encefalitis por VHS","Meningoencefalitis por herpes simple","Neuroinvasión por herpes simple"],"definition":"Es una enfermedad causada por la infección del sistema nervioso central por parte del virus del herpes simple (VHS). Puede presentar un curso clínico devastador y un pronóstico potencialmente fatal, especialmente en los casos con tratamiento tardío o en ausencia de tratamiento. La encefalitis por el VHS afecta con frecuencia a los lóbulos frontal y temporal, por lo general de forma asimétrica, provocando cambios de personalidad, deterioro cognitivo, afasia, convulsiones y debilidad focal."},"it":{"name":"Encefalite da herpes simplex","synonyms":["Encefalite da HSV","Encefalite erpetica","Meningo-encefalite da herpes simplex","Neuroinvasione da herpes simplex"]},"nl":{"name":"Encefalitis door herpes-simplexvirus","synonyms":["HSE","HSV-encefalitis","HSVE","Herpetische encefalitis","Meningo-encefalitis door herpes-simplexvirus","Neuro-invasie door herpes-simplexvirus"],"definition":"Een zeldzame aandoening die wordt veroorzaakt door infectie van het centrale zenuwstelsel door herpes-simplexvirus (HSV), en die een verwoestend klinisch verloop kan hebben met een potentieel fatale uitkomst, vooral bij uitstel van of gebrek aan behandeling. Deze aandoening treft vaak de frontale en temporale kwabben, meestal asymmetrisch, met persoonlijkheidsveranderingen, cognitieve beperking, afasie, insulten, en focale zwakte tot gevolg."},"pt":{"name":"Encefalite por virus herpes simplex","synonyms":["Encefalite HSV","Encefalopatia herpética","HSE","HSVE","Meningo-encefalite por herpes simplex"]},"pl":{"name":"Opryszczkowe zapalenie mózgu","synonyms":["Opryszczkowe zapalenie opon mózgowych i mózgu","Zapalenie mózgu HSV"]},"cs":{"name":"Herpetická encefalitida","synonyms":["HSV encefalitida","Herpes simplex meningoencefalitida","Herpes simplex neuroinvaze","Herpes simplex encefalitida"]},"uk":{"name":"Енцефаліт, спиричинений Herpes simplex virus","synonyms":["Простий герпетичний менінгоенцефаліт","Нейроінвазія простого герпесу","Герпетичний енцефаліт","HSE","HSV-енцефаліт","HSVE"],"definition":"A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness."},"zh":{"name":"单纯疱疹病毒性脑炎","synonyms":["单纯疱疹病毒性脑膜脑炎"]},"tr":{"name":"Herpes simpleks virüs ensefaliti","synonyms":["SEÇ","HSVE","HSV ensefaliti","Herpetik ensefalit","Herpes simpleks nöroinvazyonu","Herpes simpleks meningo-ensefalit"]}},"xrefs":[{"source":"OMIM","code":"610551","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613002","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614849","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616532","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"B00.4+","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"G05.1*","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"1F00.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"320069644"},{"source":"MONDO","code":"0012521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020803","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0276226","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6649","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]},{"orpha":98542,"name":"Infectious disease with dementia","classifications":[181]},{"orpha":166490,"name":"Infectious disease with epilepsy","classifications":[181]},{"orpha":98252,"name":"Infectious encephalitis","classifications":[181,203]}],"children":[],"genes":[{"symbol":"TBK1","name":"TANK binding kinase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22851595[PMID]","hgnc":"11584","ensembl":"ENSG00000183735","omim":"604834","loci":["12q14.2"]},{"symbol":"TICAM1","name":"TIR domain containing adaptor molecule 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22105173[PMID]","hgnc":"18348","ensembl":"ENSG00000127666","omim":"607601","loci":["19p13.3"]},{"symbol":"TLR3","name":"toll like receptor 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17872438[PMID]","hgnc":"11849","ensembl":"ENSG00000164342","omim":"603029","loci":["4q35.1"]},{"symbol":"TRAF3","name":"TNF receptor associated factor 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20832341[PMID]","hgnc":"12033","ensembl":"ENSG00000131323","omim":"601896","loci":["14q32.32"]},{"symbol":"UNC93B1","name":"unc-93B1 regulator of TLR signaling","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16973841[PMID]","hgnc":"13481","ensembl":"ENSG00000110057","omim":"608204","loci":["11q13.2"]}],"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":0.3,"area":"Worldwide","status":"Validated","source":"16675036[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"United Kingdom","status":"Validated","source":"20657024[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"United States","status":"Validated","source":"16675036[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-04","source":"24768322[PMID]_27106239[PMID]_31292686[PMID]_29409994[PMID]","terms":[{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200149","label":"CSF lymphocytic pleiocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031179","label":"Nuchal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025143","label":"Chills","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011972","label":"Hypoglycorrhachia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null}]}}