{"orpha":47045,"name":"Familial cold urticaria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FCAS","FCU","Familial cold autoinflammatory syndrome"],"definition":"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-47045/","orphanet_url":"https://www.orpha.net/en/disease/detail/47045","names":{"fr":{"name":"Urticaire familiale au froid","synonyms":["FCU","SFAF","Syndrome familial auto-inflammatoire au froid"],"definition":"L'urticaire familiale au froid (FCAS) est la forme la plus légère du syndrome périodique associé à la cryopyrine (CAPS) et se caractérise par des épisodes récurrents d'éruptions cutanées urticariennes provoquées par une exposition au froid, en association avec une fièvre légère, un malaise général, une rougeur des yeux et une arthralgie/myalgie"},"de":{"name":"Kälte-Urtikaria, familiäre","synonyms":["Autoinflammatorisches Syndrom, kälteinduziertes, familiäre Form","FCAS","FCU"],"definition":"Die familiäre Kälteurtikaria (FCAS) ist die mildeste Form des Cryopyrin-assoziierten periodischen Syndroms (CAPS; siehe dort) und ist gekennzeichnet durch wiederkehrende Episoden eines Urtikaria-ähnlichen Hautausschlags, der durch Kälteeinwirkung ausgelöst wird, verbunden mit niedrigem Fieber, allgemeinem Unwohlsein, Augenrötung und Arthralgie/Myalgie."},"es":{"name":"Urticaria familiar por frío","synonyms":["FCAS","FCU","Síndrome autoinflamatorio familiar por frío"],"definition":"La urticaria familiar por frío (FCAS, siglas en inglés) es la forma más leve del síndrome periódico asociado a la criopirina (CAPS, siglas en inglés; consulte este término) y se caracteriza por episodios recurrentes de erupción cutánea similar a la urticaria desencadenada por la exposición al frío asociada con fiebre baja, malestar general, enrojecimiento de los ojos y artralgia/mialgia."},"it":{"name":"Orticaria familiare da freddo","synonyms":["FCAS","FCAS1","FCU","Sindrome autoinfiammatoria familiare da freddo"]},"nl":{"name":"Familiale koude-urticaria","synonyms":["FCAS","FCU","Familiaal auto-inflammatoir syndroom door koude","Familiale netelroos door koude"],"definition":"Familiale koude-urticaria (FCAS) is de mildste vorm van cryopyrinegeassocieerd periodiek syndroom (CAPS; zie deze term) en wordt gekarakteriseerd door terugkerende episodes met urticaria-achtige huiduitslag die wordt uitgelokt door blootstelling aan koude, geassocieerd met lage koorts, algemene malaise, rode ogen en artralgie/myalgie."},"pt":{"name":"Urticária induzida pelo frio familiar","synonyms":["FCAS","FCU","Síndrome auto-inflamatório induzido pelo frio familiar"],"definition":"A urticária familiar ao frio (FCAS) é a forma mais ligeira da síndrome periódica associada à criopirina (CAPS) e caracteriza-se por episódios recorrentes de erupção cutânea semelhante à urticária, desencadeados pela exposição ao frio, associados a febre baixa, mal-estar geral, vermelhidão nos olhos e artralgia/mialgia."},"pl":{"name":"Rodzinna pokrzywka wywołana zimnem","synonyms":["FCAS","FCAS1","FCU","Rodzinny zespół autozapalenia indukowany oziębieniem"]},"cs":{"name":"Familiární chladová kopřivka","synonyms":["FCAS","FCU","Familiární autoinflamatorní syndrom vyvolaný chladem"]},"uk":{"name":"Сімейна холодова кропивянка","synonyms":["Сімейний холодовий аутозапальний синдром","FCAS","FCU"],"definition":"Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."},"zh":{"name":"家族性寒冷性荨麻疹","synonyms":["家族性冷性自身炎症综合征"]},"tr":{"name":"Ailesel soğuk ürtiker","synonyms":["FCU","FCAS","Ailesel soğuk otoinflamatuar sendrom"]}},"xrefs":[{"source":"OMIM","code":"120100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L50.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A60.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1932140025"},{"source":"MONDO","code":"0018768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343068","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9535","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064570","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":208650,"name":"NLRP3-associated autoinflammatory disease","classifications":[156,187,195,196,231]}],"children":[],"genes":[{"symbol":"NLRP3","name":"NLR family pyrin domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"11687797[PMID]","hgnc":"16400","ensembl":"ENSG00000162711","omim":"606416","loci":["1q44"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"24262697[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","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:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}