{"orpha":208650,"name":"NLRP3-associated autoinflammatory disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CAPS","Cryopyrin associated periodic syndrome","Cryopyrinopathy","NLRP3-associated AID","NLRP3-associated autoinflammatory syndrome"],"definition":"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-208650/","orphanet_url":"https://www.orpha.net/en/disease/detail/208650","names":{"fr":{"name":"Maladie auto-inflammatoire associée à NLRP3","synonyms":["CAPS","Cryopyrinopathie","Maladie auto-inflammatoire associée à la cryopyrine","Syndrome auto-inflammatoire associé à NLRP3","Syndrome périodique associé à la cryopyrine"],"definition":"Le syndrome périodique associé à la cryopyrine (CAPS) définit un groupe de maladies auto-inflammatoires caractérisées par des épisodes inflammatoires systémiques récurrents, en l'absence de toute infection ou maladie auto-immune. CAPS comprend 3 maladies sur un continuum de sévérité : le syndrome CINCA sévère, le syndrome de Muckle-Wells (MWS) intermédiaire, et l'urticaire familiale au froid (FCAS) qui est la forme la plus modérée."},"de":{"name":"NLRP3-assoziierte autoinflammatorische Krankheit","synonyms":["CAPS","Cryopyrin-assoziiertes periodisches Syndrom","Cryopyrinopathie","NLRP3-assoziiertes autoinflammatorisches Syndrom"]},"es":{"name":"Enfermedad autoinflamatoria asociada a NLRP3","synonyms":["CAPS","Criopirinopatía","EAI asociada a NLRP3","Síndrome autoinflamatorio asociado a NLRP3","Síndrome periódico asociado a la criopirina"],"definition":"El síndrome periódico asociado a la criopirina (CAPS, siglas en inglés) define un grupo de enfermedades autoinflamatorias que se caracterizan por episodios recurrentes de ataques inflamatorios sistémicos en ausencia de infección o enfermedad autoinmune. El CAPS comprende tres trastornos en un continuo de gravedad: síndrome de CINCA, grave, síndrome de Muckle-Wells (SMW), intermedio, y urticaria familiar por frío (FCAS, siglas en inglés), leve (ver estos términos)."},"it":{"name":"Malattia autoinfiammatoria correlata a NLRP3","synonyms":["Sindrome autoinfiammatoria correlata a NLRP3","AID associata a NLRP3","Sindrome periodica associata alla criopirina","CAPS","Criopirinopatia"]},"nl":{"name":"NLRP3-geassocieerde auto-inflammatoire ziekte","synonyms":["CAPS","Cryopyrine-geassocieerd periodiek syndroom","Cryopyrinopathie","NLRP3-geassocieerd auto-inflammatoir syndroom"],"definition":"Cryopyrinegeassocieerd periodiek syndroom (CAPS) definieert een groep auto-inflammatoire ziekten die worden gekarakteriseerd door terugkerende periodes van systemische ontstekingsaanvallen in afwezigheid van infectie of auto-immuunziekte. CAPS omvat 3 aandoeningen met verschillende graden van ernst: ernstig CINCA-syndroom, intermediair Muckle-Wellssyndroom (MWS) en mildere familiale koude-urticaria (FCAS) (zie deze termen)."},"pt":{"name":"Doença auto-inflamatória NLRP3-associada","synonyms":["CAPS","Criopirinopatia","Síndrome auto-inflamatória NLRP3-associada","Síndrome periódica associado à criopirina","AID NLRP3-associada"]},"pl":{"name":"Zespół okresowy zależny od kriopiryny","synonyms":["CAPS","Kriopirynopatia"]},"cs":{"name":"Periodické syndromy asociované s kryopyrinem","synonyms":["CAPS","Kryopyrinopatie"]},"uk":{"name":"NLRP3-асоційоване аутозапальне захворювання","synonyms":["CAPS","Періодичний синдром, асоційований з кріопірином","Кріопіринопатія","NLRP3-асоційована AID","NLRP3-асоційований аутозапальний синдром"],"definition":"Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms)."},"zh":{"name":"Cryopyrin蛋白相关的周期性综合征","synonyms":["NLRP3相关全身性自身炎症性疾病"],"definition":"Cryopyrin蛋白相关周期综合征（CAPS）是指一组自身炎性疾病，其主要临床表现为没有感染或自身免疫性疾病的情况下出现全身性炎症反应反复发作。CAPS包括3种不同严重程度的疾病：重度的CINCA综合征、中度的Muckle-Wells综合征（MWS）和轻度的家族性冷性荨麻疹（FCAS）（见术语）。"},"tr":{"name":"Kriyopirin -ilişkili periyodik sendrom","synonyms":["CAPS","Kriyopirinopati","NLRP3-ilişkili sistemik otoinflamatuar hastalık"]}},"xrefs":[{"source":"ICD-11","code":"4A60.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2139918612"},{"source":"MONDO","code":"0016168","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16168","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056587","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2316212","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10927","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068850","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]}],"children":[{"orpha":1451,"name":"CINCA syndrome","type":"Disease"},{"orpha":47045,"name":"Familial cold urticaria","type":"Disease"},{"orpha":647815,"name":"Keratitis fugax hereditaria","type":"Disease"},{"orpha":575,"name":"Muckle-Wells syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"France","status":"Validated","source":"21109514[PMID]"}],"phenotypes":null}