{"orpha":838,"name":"Susac syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Retinocochleocerebral vasculopathy"],"definition":"A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-838/","orphanet_url":"https://www.orpha.net/en/disease/detail/838","names":{"fr":{"name":"Syndrome de Susac","synonyms":["Maladie de Susac","Microangiopathie cochléo-encéphalo-rétinienne","Vasculopathie rétino-cochléo-cérébrale"],"definition":"Maladie systémique ou rhumatologique rare caractérisée par la triade : atteinte du système nerveux central (SNC), occlusion des branches de l'artère centrale de la rétine et surdité neurosensorielle liées à une vasculopathie des microvaisseaux cérébraux, rétinien et de l'oreille interne, d'origine autoimmune."},"de":{"name":"Susac-Syndrom","synonyms":["Retino-cochleo-zerebrale Vaskulopathie"],"definition":"Eine seltene systemische oder rheumatologische Erkrankung, die durch eine Trias aus Funktionsstörungen des Zentralnervensystems (ZNS), Verschlüssen der Netzhautarterien (BRAOs) und Innenohrschwerhörigkeit (SNHL) aufgrund autoimmunvermittelter Verschlüsse von Mikrogefäßen in Gehirn, Netzhaut und Innenohr gekennzeichnet ist."},"es":{"name":"Síndrome de Susac","synonyms":["Vasculopatía retino-cocleo-cerebral"],"definition":"Es una enfermedad sistémica o reumatológica poco frecuente caracterizada por la tríada siguiente: disfunción del sistema nervioso central (SNC), oclusión de rama arterial retiniana (ORAR) e hipoacusia neurosensorial (HNS) debida a oclusiones de microvasos en el cerebro, la retina y el oído interno, por causas autoinmunes."},"it":{"name":"Sindrome di Susac","synonyms":["Vasculopatia retino-cocleo-cerebrale"],"definition":"La sindrome di Susac (SuS) è una malattia sistemica o reumatologica rara, caratterizzata dalla triade disfunzione del sistema nervoso centrale (SNC), occlusioni di branca dell'arteria retinica (BRAO) e sordità neurosensoriale (SNHL). La malattia è causata da occlusioni immuno-mediate dei microvasi del cervello, della retina e dell'orecchio interno."},"nl":{"name":"Syndroom van Susac","synonyms":["Retinocochleocerebrale vasculopathie"],"definition":"Een zeldzame, systemische of reumatologische ziekte, gekarakteriseerd door de triade van disfunctie van centraal zenuwstelsel (CZS), occlusies van vertakkingen van retinale arterie (BRAO's), en sensorineuraal gehoorverlies (SNHL) als gevolg van auto-immune occlusies van microvaten in hersenen, netvlies, en binnenoor."},"pt":{"name":"Síndrome Susac","synonyms":["Vasculopatia retino-cócleo-cerebral"]},"pl":{"name":"Zespół Susaca","synonyms":["Małe zawały w ślimaku, siatkówce i tkance mózgowej","RED-M","Retinopatia, encefalopatia, głuchota powiązana z mikroangiopatią","Waskulopatia siatkówkowo-ślimakowo-mózgowa","Zespół SICRET"],"definition":"Zespół Susaca jest rzadką chorobą charakteryzującą się triadą objawów: dysfunkcją (encefalopatią) ośrodkowego układu nerwowego (oun), zamknięciem odgałęzień siatkówki i zmysłowo-nerwową utratą słuchu. Przypuszcza się, że w wyniku zaburzeń układu immunologicznego dochodzi do niedrożności małych naczyń w oun, siatkówce i uchu wewnętrznym."},"cs":{"name":"Susacův syndrom","synonyms":["RED-M","Retinokochleocerebrální vaskulopatie","Retinopatie, encefalopatie a hluchota asociovaná s mikroangiopatií","SICRET syndrom","Mikroinfarkty kochleární, retinální a encefalické tkáně"]},"uk":{"name":"Синдром Сусака","synonyms":["Ретинокохлеоцеребральна васкулопатія"],"definition":"A rare systemic or rheumatologic disease characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL) due to autoimmune-mediated occlusions of microvessels in the brain, retina, and inner ear."},"zh":{"name":"Susac综合征","synonyms":["视网膜病-脑病-听力丧失相关性微血管病"]},"tr":{"name":"Susac sendromu","synonyms":["RED-M","SICRET sendromu","Retinokokleoserebral vaskülopati","Küçük koklear, retina ve ensefalik doku enfarktüsleri","Mikroanjiyopatiye bağlı retinopati-ensefalopati-sağırlık","Retinopati-ensefalopati-mikroanjiyopatiye bağlı işitme kaybı"]}},"xrefs":[{"source":"ICD-10","code":"I67.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A45.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1292480458"},{"source":"MONDO","code":"0019390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055955","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2717757","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7713","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071573","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":496924,"name":"Non-inflammatory vasculopathy","classifications":[198]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":304.0,"area":"Worldwide","status":"Validated","source":"23628737[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-13","source":"26219936[PMID]","terms":[{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","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:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}