{"orpha":140989,"name":"Primary angiitis of the central nervous system","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated angiitis of the central nervous system","PACNS","PCNSV","Primary central nervous system vasculitis","Primary vasculitis of the central nervous system"],"definition":"A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140989/","orphanet_url":"https://www.orpha.net/en/disease/detail/140989","names":{"fr":{"name":"Vascularite primitive du système nerveux central","synonyms":["Angéite isolée du système nerveux central","PACNS","PCNSV","Angéite primaire du système nerveux central"],"definition":"Vascularite rare des vaisseaux de petit et de moyen calibre du système nerveux central, caractérisée par des déficits neurologiques focaux et/ou diffus et confirmée par une angio-IRM, en l'absence de toute autre cause sous-jacente (maladies infectieuses, systémiques, autres maladies neurologiques, etc.). Elle se manifeste par des céphalées inhabituelles, des accidents vasculaires cérébraux ou des accidents ischémiques transitoires associés à des troubles cognitifs, hémiplégie, faiblesse et, rarement, à une atteinte des nerfs crâniens, des convulsions et une ataxie."},"de":{"name":"Primäre Angiitis des Zentralnervensystems","synonyms":["Isolierte Angiitis des zentralen Nervensystems","PACNS","PCNSV","Primäre Vaskulitis des Zentralnervensystems"],"definition":"Eine seltene, mittel- oder kleingefäßige Vaskulitis, die durch fokale und/oder diffuse neurologische Symptome aufgrund eines dokumentierten arteriellen Prozesses im Zentralnervensystem gekennzeichnet ist, ohne dass eine andere zugrundeliegende Ursache (infektiös, systemisch, andere neurologische Erkrankungen usw.) festgestellt wurde. Es kommt zu unspezifischen Symptomen wie Kopfschmerzen, Schlaganfall oder transitorischen ischämischen Attacken mit kognitiver Beeinträchtigung, Hemiplegie, Schwäche und selten, bei Beteiligung von Hirnnerven, Krampfanfällen und Ataxie."},"es":{"name":"Vasculitis primaria del sistema nervioso central","synonyms":["Angeítis aislada del sistema nervioso central","Angeítis primaria del sistema nervioso central","PACNS","PCNSV","Vasculitis aislada del sistema nervioso central"],"definition":"Es una vasculitis poco frecuente, de medianos o pequeños vasos caracterizada por síntomas neurológicos focales y/o difusos debido a un proceso de arteritis confirmada en el sistema nervioso central, en ausencia de otra causa subyacente identificada (infecciosa, sistémica, otras enfermedades neurológicas, etc.). Se presenta con síntomas inespecíficos de cefalea, accidente cerebrovascular o ataques isquémicos transitorios con deterioro cognitivo, hemiplejía, debilidad y, excepcionalmente, con afectación de pares craneales, crisis epilépticas y ataxia."},"it":{"name":"Angioite primitiva del sistema nervoso centrale","synonyms":["Angioite isolata del sistema nervoso centrale","Angioite primitiva del sistema nervoso centrale","PACNS","PCNSV"],"definition":"Si tratta di una vasculite rara dei vasi di medie o piccole dimensioni, caratterizzata da sintomi neurologici focali e/o diffusi secondari ad un processo arteritico accertato a livello del sistema nervoso centrale, in assenza di altre cause (infezioni, malattie sistemiche o neurologiche, ecc.). La malattia si manifesta con sintomi aspecifici che comprendono la cefalea, l'ictus o gli attacchi ischemici transitori con deficit cognitivo, l'emiplegia, la debolezza e, raramente, con l'interessamento dei nervi cranici, le crisi epilettiche e l'atassia."},"nl":{"name":"Primaire angiitis van centraal zenuwstelsel","synonyms":["Geïsoleerde angiitis van centraal zenuwstelsel","PACNS","PCNSV","Primaire vasculitis van centraal zenuwstelsel"],"definition":"Een zeldzame vasculitis van middelgrote of kleine bloedvaten, gekarakteriseerd door focale en/of diffuse neurologische symptomen als gevolg van een gedocumenteerd arteritisch proces in centraal zenuwstelsel, in afwezigheid van enige andere geïdentificeerde onderliggende oorzaak (infectieus, systemisch, andere neurologische aandoeningen, etc.). De aandoening presenteert zich met aspecifieke symptomen als hoofdpijn, beroerte of transiënte ischemische aanvallen met cognitieve functiestoornis, hemiplegie, zwakte, en in zeldzame gevallen met betrokkenheid van hersenzenuwen, insulten en ataxie."},"pt":{"name":"Angeíte primária do sistema nervoso central"},"pl":{"name":"Pierwotne zapalenie naczyń ośrodkowego układu nerwowego","synonyms":["Izolowane zapalenie naczyń centralnego układu nerwowego","PACNS","PCNSV"]},"cs":{"name":"Primární vaskulitida centrálního nervového systému","synonyms":["Izolovaná angiitida centrálního nervového systému","PACNS","PCNSV","Primární angiitida centrálního nervového systému"]},"uk":{"name":"Первинний ангііт центральної нервової системи","synonyms":["Ізольований ангііт центральної нервової системи","PACNS","PCNSV","Первинний васкуліт центральної нервової системи","Первинний васкуліт центральної нервової системи"],"definition":"A rare, medium or small vessel vasculitis characterized by focal and/or diffuse neurologic symptoms due to a documented arteritic process in the central nervous system, in the absence of other identified underlying cause (infectious, systemic, other neurologic diseases, etc.). It presents with non-specific symptoms of headache, stroke or transient ischemic attacks with cognitive impairment, hemiplegia, weakness, and rarely, with cranial nerve involvement, seizures and ataxia."},"zh":{"name":"原发性中枢神经系统血管炎","synonyms":["孤立性中枢神经系统血管炎"],"definition":"一种罕见的神经系统疾病，其特征是脑内血管炎而导致的局灶性和弥漫性神经系统症状。除中风和短暂脑缺血发作、惊厥、失语和视野缺损等，最常见现象为隐匿性进行性头痛和认知障碍。中枢神经系统外的血管炎体征罕见，炎症性血清学标志物通常正常。脑脊液分析可能显示总蛋白水平和细胞计数升高。"},"tr":{"name":"Primer merkezi sinir sistemi anjiiti","synonyms":["PACNS","PCNSV","Primer merkezi sinir sistemi vasküliti","Merkezi sinir sisteminin izole anjiti","Merkezi sinir sisteminin primer vasküliti"]}},"xrefs":[{"source":"ICD-10","code":"I67.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A44.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2130738127"},{"source":"MONDO","code":"0015374","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535276","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8703","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":156143,"name":"Predominantly medium-vessel vasculitis","classifications":[196,198]},{"orpha":156146,"name":"Predominantly small-vessel vasculitis","classifications":[196,198]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"United States","status":"Validated","source":"21601163[PMID]_21180634[PMID]_22575778[PMID]"},{"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":"2018-10-17","source":"26020379[PMID]_25708615[PMID]_22575778[PMID]_16575852[PMID]","terms":[{"hpo":"HP:0005318","label":"Cerebral vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025456","label":"Abnormal CSF protein level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007052","label":"Multifocal cerebral white matter abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007236","label":"Recurrent subcortical infarcts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030588","label":"Abnormal visual field test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002385","label":"Paraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010534","label":"Transient global amnesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025142","label":"Constitutional symptom","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000538","label":"Pseudopapilledema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very rare (<4-1%)","criteria":null}]}}