{"orpha":576349,"name":"NLRC4-related familial cold autoinflammatory syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FCAS4","Familial cold autoinflammatory syndrome 4","NLRC4-related familial cold urticaria"],"definition":"A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-576349/","orphanet_url":"https://www.orpha.net/en/disease/detail/576349","names":{"fr":{"name":"Syndrome familial auto-inflammatoire au froid associé à NLRC4","synonyms":["SFAF4","Syndrome familial auto-inflammatoire au froid type 4","Urticaire familiale au froid associé à NLRC4"],"definition":"Syndrome de fièvre récurrente héréditaire rare caractérisé par l'apparition, pendant la petite enfance ou l'enfance, d'épisodes de fièvre et d'éruptions cutanées et d'arthralgies semblables à l'urticaire provoquées par le froid. Des atteintes oculaires telles qu'une conjonctivite et une uvéite peuvent également être présentes. Le tableau clinique est généralement léger et les symptômes disparaissent sans traitement dans la plupart des cas."},"de":{"name":"NLRC4-assoziiertes familiäres kälteinduziertes autoinflammatorisches Syndrom","synonyms":["Autoinflammatorisches Syndrom, kälteinduziertes, familiäres, Typ 4","FCAS4","NLRC4-assoziierte familiäre Kälte-Urtikaria"],"definition":"Ein seltenes hereditäres periodisches Fiebersyndrom, das durch Fieberschübe im Säuglings- oder Kindesalter und einen kältebedingten urtikariaähnlichen Ausschlag und Arthralgien gekennzeichnet ist. Auch Augenerscheinungen wie Bindehautentzündung und Uveitis können auftreten. Der Verlauf ist in der Regel mild, und die Symptome verschwinden in den meisten Fällen ohne Behandlung."},"es":{"name":"Síndrome autoinflamatorio familiar por frío asociado a NLRC4","synonyms":["FCAS4","Síndrome autoinflamatorio familiar por frío 4","Urticaria familiar por frío asociada a NLRC4"],"definition":"Es un síndrome de fiebre periódica hereditario poco frecuente caracterizado por episodios de fiebre y artralgias y erupción similar a la urticaria inducidos por el frío de inicio en el periodo de lactancia o en la infancia. También puede asociar manifestaciones oculares como conjuntivitis y uveítis. La presentación suele ser leve y los síntomas se resuelven sin tratamiento en la mayoría de los casos."},"it":{"name":"Sindrome autoinfiammatoria familiare da freddo correlata a NLRC4","synonyms":["FCAS4","Orticaria da freddo familiare correlata a NLRC4","Sindrome autoinfiammatoria familiare da freddo 4"]},"nl":{"name":"NLRC4-gerelateerd familiaal auto-inflammatoir syndroom door koude","synonyms":["FCAS4","Familiaal auto-inflammatoir syndroom door koude 4","NLRC4-gerelateerde familiale koude-urticaria"],"definition":"Een zeldzaam erfelijk syndroom van periodieke koorts, gekenmerkt door infantiele of juveniele aanvang van episodes van koorts en koudegeïnduceerde urticaria-achtige huiduitslag en artralgie. Oogkenmerken zoals conjunctivitis en uveïtis kunnen ook aanwezig zijn. De presentatie is doorgaans mild, en in de meeste gevallen verdwijnen symptomen zonder behandeling."},"pt":{"name":"Síndrome autoinflamatório ao frio familiar NLRC4-relacionada","synonyms":["Síndrome familiar autoinflamatório ao frio 4"],"definition":"Síndrome de febre periódica hereditária rara, caracterizada por episódios de febre na infância ou de forma mais precoce e erupções cutâneas semelhantes a urticária e artralgias induzidas pelo frio. As ocorrências oculares como conjuntivite e uveíte podem estar presentes. A apresentação clínca é geralmente ligeira e os sintomas desaparecem sem tratamento na maioria dos casos."},"pl":{"name":"Rodzinny zespół autozapalny indukowany zimnem związany z NLRC4","synonyms":["FCAS4","Familial cold autoinflammatory syndrome 4","NLRC4-related familial cold urticaria"],"definition":"Rzadko występujący dziedziczny zespół gorączki nawrotowej, charakteryzujący się rozpoczynającymi się w niemowlęctwie lub wieku dziecięcym epizodami gorączki, wysypki przypominającej pokrzywkę indukowaną zimnem i zapaleń stawów. Mogą również występować objawy oczne, takie jak zapalenie spojówek i zapalenie błony naczyniowej oka. Objawy są zazwyczaj łagodne i w większości przypadków ustępują bez leczenia."},"cs":{"name":"NLRC4-vázaný familiární chladový autoinflamatorní syndrom","synonyms":["FCAS4","Familial cold autoinflammatory syndrome 4","NLRC4-related familial cold urticaria"]},"uk":{"name":"Сімейний холодовий аутозапальний синдром, повязаний з NLRC4","synonyms":["Сімейний холодовий аутозапальний синдром 4","FCAS4","Сімейна холодова кропивянка, повязана з NLRC4"],"definition":"A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases."},"zh":{"name":"NLRC4基因相关家族性感冒自身炎性综合征","synonyms":["家族性寒冷性自身炎性综合征"]},"tr":{"name":"NLRC4-ilişkili ailesel soğuk otoinflamatuar sendrom","synonyms":["FCAS4","NLRC4-ilişkili ailesel soğuk ürtiker","Ailesel soğuk otoinflamatuar sendrom 4"]}},"xrefs":[{"source":"OMIM","code":"616115","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014498","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"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":[],"genes":[{"symbol":"NLRC4","name":"NLR family CARD domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25385754[PMID]_31953710[PMID]_28957823[PMID]_29247997[PMID]_29496273[PMID]","hgnc":"16412","ensembl":"ENSG00000091106","omim":"606831","loci":["2p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"29496273[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29496273[PMID]_ORPHANET"}],"phenotypes":null}