{"orpha":1451,"name":"CINCA syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chronic infantile neurological cutaneous and articular syndrome","IOMID syndrome","Infantile-onset multisystem inflammatory disease","NOMID syndrome","Neonatal-onset multisystem inflammatory disease","Prieur-Griscelli syndrome"],"definition":"A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1451/","orphanet_url":"https://www.orpha.net/en/disease/detail/1451","names":{"fr":{"name":"Syndrome CINCA","synonyms":["Maladie inflammatoire multisystémique de l'enfant","Maladie inflammatoire multisystémique néonatale","Syndrome de Prieur-Griscelli","Syndrome neurologique, cutané et articulaire infantile chronique"],"definition":"Syndrome périodique rare, génétique, associé à la cryopyrine (CAPS), caractérisé par l'apparition néonatale d'une inflammation systémique, d'une éruption cutanée de type urticarienne et d'arthrite/arthralgie entraînant une arthropathie grave et une atteinte du système nerveux central (notamment une méningite aseptique chronique, une atrophie cérébrale et une surdité de perception)."},"de":{"name":"CINCA-Syndrom","synonyms":["Chronisch-infantiles-neurologisch-kutanes-artikuläres Syndrom","IOMID-Syndrom","Multisystemkrankheit, inflammatorische, infantil beginnende","Multisystemkrankheit, inflammatorische, neonatal beginnende","NOMID-Syndrom","Prieur-Griscelli-Syndrom"],"definition":"Ein Kryopyrin-assoziiertes periodisches Syndrom (CAPS), das durch den neonatalen Beginn von systemischen Entzündungen, urtikariellem Hautausschlag und Arthritis/Arthralgie gekennzeichnet ist und zu schwerer Arthropathie und einer Beteiligung des zentralen Nervensystems (einschließlich chronischer aseptischer Meningitis, Hirnatrophie und sensorineuraler Schwerhörigkeit) führt."},"es":{"name":"Síndrome CINCA","synonyms":["Enfermedad inflamatoria multisistémica de inicio en el lactante","Enfermedad inflamatoria multisistémica de inicio neonatal","Síndrome IOMID","Síndrome NOMID","Síndrome crónico articular-cutáneo-neurológico del lactante","Síndrome de Prieur-Griscelli"],"definition":"Es un síndrome periódico asociado a la criopirina (SPAC), de origen genético, poco frecuente, caracterizado por el inicio neonatal de inflamación sistémica, erupción cutánea urticariforme y artritis/artralgia que deriva en artropatía grave y en afectación del sistema nervioso central (incluyendo la meningitis aséptica crónica, la atrofia cerebral y la pérdida auditiva neurosensorial)."},"it":{"name":"Sindrome CINCA","synonyms":["Malattia infiammatoria multisistemica a esordio neonatale","Malattia infiammatoria multisistemica infantile","Sindrome IOMID","Sindrome NOMID","Sindrome articolare-cutanea-neurologica infantile cronica","Sindrome di Prieur-Griscelli"],"definition":"Si tratta di una sindrome genetica rara e periodica associata alla criopirina (CAPS), caratterizzata da infiammazione sistemica a esordio neonatale, eruzione cutanea orticarioide, artrite/artralgia con conseguente artropatia grave, ed interessamento del sistema nervoso centrale (meningite asettica cronica, atrofia cerebrale e sordità neurosensoriale)."},"nl":{"name":"CINCA-syndroom","synonyms":["Chronisch infantiel neurologisch cutaan en articulair syndroom","IOMID-syndroom","Multisystemische inflammatoire aandoening met infantiele aanvang","Multisystemische inflammatoire aandoening met neonatale aanvang","NOMID-syndroom","Syndroom van Prieur-Griscelli"],"definition":"Een zeldzaam, genetisch, cryopyrine-geassocieerd periodiek syndroom (CAPS), gekarakteriseerd door neonatale aanvang van systemische inflammatie, urticariële huiduitslag, artritis/artralgie met ernstige artropathie tot gevolg, en betrokkenheid van centraal zenuwstelsel (inclusief chronische aseptische meningitis, atrofie van hersenen en sensorineuraal gehoorverlies)."},"pt":{"name":"Síndrome CINCA","synonyms":["Síndrome neuro-cutaneo-articular crónico do lactente"]},"pl":{"name":"Zespół CINCA","synonyms":["Przewlekły niemowlęcy zespół neurologiczno-skórno-stawowy","Zespół IOMID","Zespół NOMID","Zespół Prieura i Griscelli","Zespół wielonarządowej reakcji zapalnej o początku w okresie niemowlęcym","Zespół wielonarządowej reakcji zapalnej o początku w okresie noworodkowym"]},"cs":{"name":"Syndrom CINCA","synonyms":["Chronický infantilní neurologický kutánní artikulární syndrom","IOMID syndrom","NOMID syndrom","Multisystémový zánět začínající v dětství","Prieurův-Griscelliho syndrom","Prieur-Griscelliho syndrom"]},"uk":{"name":"Синдром CINCA","synonyms":["Хронічний дитячий неврологічний шкірно-суглобовий синдром","Мультисистемне запальне захворювання, що починається в дитинстві","Синдром IOMID","Неонатальне мультисистемне запальне захворювання","Синдром NOMID","Синдром Прієра-Грічеллі"],"definition":"A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by neonatal onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss)."},"zh":{"name":"CINCA综合征","synonyms":["慢性婴儿神经皮肤关节病"]},"tr":{"name":"CINCA sendromu","synonyms":["IOMID sendromu","NOMID sendromu","Prieur-Griscelli sendromu","Yenidoğan başlangıçlı multisistem inflamatuar hastalık","İnfantil başlangıçlı multisistem inflamatuar hastalık","Kronik infantil nörolojik kutanöz ve artiküler sendrom"]}},"xrefs":[{"source":"OMIM","code":"607115","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1741624812"},{"source":"MONDO","code":"0011776","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0409818","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1356","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93365,"name":"OBSOLETE: CINCA syndrome with NLRP3 mutations","status":"inactive"},{"type":"Referred to","orpha":93367,"name":"OBSOLETE: CINCA syndrome without NLRP3 mutations","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","classifications":[147,156,199]},{"orpha":208650,"name":"NLRP3-associated autoinflammatory disease","classifications":[156,187,195,196,231]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":280926,"name":"Systemic diseases with anterior uveitis","classifications":[189]}],"children":[],"genes":[{"symbol":"NLRP3","name":"NLR family pyrin domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15801036[PMID]_12032915[PMID]","hgnc":"16400","ensembl":"ENSG00000162711","omim":"606416","loci":["1q44"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]_21109514[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001911","label":"Abnormality of granulocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000538","label":"Pseudopapilledema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100654","label":"Retrobulbar optic neuritis","frequency":"Occasional (29-5%)","criteria":null}]}}