{"orpha":247868,"name":"NLRP12-associated hereditary periodic fever syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FCAS2","Familial cold autoinflammatory syndrome type 2","NAPS12"],"definition":"A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247868/","orphanet_url":"https://www.orpha.net/en/disease/detail/247868","names":{"fr":{"name":"Syndrome de fièvre périodique héréditaire lié à NLRP12","synonyms":["NAPS12","SFAF2","Syndrome familial auto-inflammatoire au froid type 2","FCAS2"],"definition":"Syndrome auto-inflammatoire rare caractérisé par des périodes de fièvre épisodique et récurrente associées à diverses manifestations systémiques telles que myalgie, arthralgie, gonflement des articulations, urticaire, céphalées et éruptions cutanées. Ces épisodes sont généralement déclenchés par le froid."},"de":{"name":"NLRP12-assoziiertes hereditäres Periodisches Fiebersyndrom","synonyms":["Autoinflammatorisches Syndrom, kälteinduziertes, familiäres, Typ 2","FCAS2","NAPS12"]},"es":{"name":"Síndrome de fiebre periódica hereditaria asociada a NLRP12","synonyms":["FCAS2","NAPS12","Síndrome autoinflamatorio familiar por frío 2"],"definition":"Es un síndrome autoinflamatorio poco frecuente caracterizado por períodos febriles recurrentes y episódicos combinados con diversas manifestaciones sistémicas, tales como mialgia, artralgia, inflamación articular, urticaria, cefalea y erupción cutánea. El desencadenante común de estos episodios es el frío."},"it":{"name":"Sindrome da febbre periodica ereditaria associata a NLRP12","synonyms":["FCAS2","NAPS12","Sindrome autoinfiammatoria familiare da freddo 2"],"definition":"La sindrome da febbre periodica ereditaria associata a NLRP12 è una malattia autoinfiammatoria rara, caratterizzata da episodi ricorrenti di febbre associata a segni clinici sistemici variabili come la mialgia, l'artralgia, la tumefazione delle articolazioni, l'orticaria, la cefalea e le eruzioni cutanee. Di solito gli episodi sono scatenati dal freddo."},"nl":{"name":"NLRP12-geassocieerde erfelijke periodieke koorts-syndroom","synonyms":["FCAS2","Familiaal koud auto-inflammatoir syndroom 2","NAPS12"],"definition":"NLRP12-geassocieerde erfelijke periodieke koorts-syndroom is een zeldzaam autoinflammatoir syndroom dat gekarakteriseerd wordt door episodische en recurrente periodes met koorts, gecombineerd met verscheidene systemische manifestaties zoals myalgie, artralgie, zwelling van gewrichten, netelroos, hoofdpijn en huiduitslag. De gangbare impuls van deze episodes is koude."},"pt":{"name":"Síndrome de febre periódica hereditária associada a NLRP12","synonyms":["Síndrome de febre epsódica familiar associada a NALP12"]},"pl":{"name":"Dziedziczny zespół gorączki okresowej związany z NLRP12","synonyms":["FCAS2","NAPS12"]},"cs":{"name":"Syndrom NLRP12-vázané hereditární periodické horečky","synonyms":["FCAS2","NAPS12","Familiární chladový autozánětlivý syndrom, typ 2"]},"uk":{"name":"NLRP12-асоційований синдром спадкової періодичної лихоманки","synonyms":["Сімейний простудний аутозапальний синдром 2 типу","FCAS2","NAPS12"],"definition":"A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold."},"zh":{"name":"NLRP12基因相关遗传性周期性发热综合征","synonyms":["家族性寒冷性自身炎症综合征2型"],"definition":"NLRP12相关遗传性周期性发热综合征是一种罕见的自身炎症综合征，其特征是间歇性和反复发热，并伴有各种全身症状，如肌痛、关节痛、关节肿胀、荨麻疹、头痛和皮疹。这些症状发作的常见诱因是感冒。"},"tr":{"name":"NLRP12-ilişkili kalıtsal periyodik ateş sendromu","synonyms":["FCAS2","NAPS12","Ailesel soğuk otoinflamatuar sendrom tip 2"]}},"xrefs":[{"source":"OMIM","code":"611762","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1163949323"},{"source":"MONDO","code":"0012724","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673198","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":"NLRP12","name":"NLR family pyrin domain containing 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18230725[PMID]","hgnc":"22938","ensembl":"ENSG00000142405","omim":"609648","loci":["19q13.42"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"24131530[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24131530[PMID]"}],"phenotypes":null}