{"orpha":32960,"name":"Tumor necrosis factor receptor 1 associated periodic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial Hibernian fever","TNF receptor 1-associated periodic syndrome","TRAPS syndrome"],"definition":"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-32960/","orphanet_url":"https://www.orpha.net/en/disease/detail/32960","names":{"fr":{"name":"Syndrome périodique associé au récepteur 1 du facteur de nécrose tumorale","synonyms":["Fièvre hibernienne familiale","Fièvre périodique autosomique dominante","Syndrome TRAPS","Syndrome périodique associé au récepteur 1 du TNF"],"definition":"Syndrome de fièvre récurrente caractérisé par une fièvre récurrente, des arthralgies, des myalgies et des lésions cutanées sensibles durant 1 à 3 semaines, associées à une inflammation de la peau, des articulations, des yeux et des séreuses et compliquées par une amylose secondaire."},"de":{"name":"Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom","synonyms":["Fieber, familiäres, Typ Hibernian","TNF-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom","TRAPS-Syndrom"],"definition":"Das Tumornekrosefaktor-Rezeptor-1-assoziierte periodische Syndrom (TRAPS) gehört zur Gruppe der hereditären periodischen Fiebersyndrome. Es ist gekennzeichnet durch rezidivierendes Fieber, Arthralgie, Myalgie und empfindliche Hautläsionen, die ein bis drei Wochen andauern. Sie gehen mit Haut-, Gelenk-, Augen- und Serosalentzündungen einher und können durch sekundäre Amyloidose kompliziert werden."},"es":{"name":"Síndrome periódico asociado al receptor 1 del factor de necrosis tumoral","synonyms":["Fiebre hiberniana familiar","Síndrome TRAPS","Síndrome periódico asociado al receptor 1 del TNF"],"definition":"El síndrome periódico asociado al receptor 1 del factor de necrosis tumoral (TRAPS, siglas en inglés) es un síndrome periódico de fiebre caracterizado por fiebre recurrente, artralgias, mialgias y lesiones cutáneas blandas que duran de 1 a 3 semanas, asociadas a inflamación cutánea, articular, ocular y serosa y complicada por amiloidosis secundaria (ver este término)."},"it":{"name":"Sindrome periodica associata al recettore 1 del fattore di necrosi tumorale","synonyms":["Febbre iberniana familiare","Sindrome TRAPS","Sindrome periodica associata al recettore 1 del TNF"]},"nl":{"name":"Tumornecrosefactorreceptor 1-geassocieerd periodiek syndroom","synonyms":["Familiale Ierse koorts","TNF-receptor 1-geassocieerd periodiek syndroom","TRAPS-syndroom"],"definition":"Tumornecrosefactorreceptor 1-geassocieerd periodiek syndroom (TRAPS) is een periodiek koortssyndroom dat gekarakteriseerd wordt door terugkerende koorts, artralgie, myalgie en gevoelige huidletsels die 1 tot 3 weken aanhouden, geassocieerd is met ontstekingen van de huid, gewrichten, ogen en lichaamsvliezen, en gecompliceerd wordt door secundaire amyloïdose (zie deze term)."},"pt":{"name":"Síndrome TRAPS","synonyms":["Febre hiberniana familiar","Febre periódica autossómica dominante","Síndrome periódico associado ao recetor 1 do TNF"]},"pl":{"name":"Zespół okresowy zwiazany z receptorem 1 czynnika martwicy nowotworów","synonyms":["Rodzinna gorączka Hibernian","Zespół okresowy związany z receporem 1 TNF","Zespół TRAPS"]},"cs":{"name":"Periodický syndrom asociovaný s receptorem pro tumor-nekrotizující faktor","synonyms":["Periodický syndrom asociovaný s receptorem pro TNF1","TRAPS syndrom","Familiární hibernská horečka"]},"uk":{"name":"Періодичний синдром, асоційований з рецептором фактора некрозу пухлин 1","synonyms":["Сімейна зимова лихоманка","Періодичний синдром, асоційований з рецептором TNF-1","Синдром TRAPS"],"definition":"Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term)."},"zh":{"name":"肿瘤坏死因子受体1相关周期性发热综合征","synonyms":["肿瘤坏死因子受体1相关周期性发热综合征"]},"tr":{"name":"Tümör nekroze edici faktör reseptörü 1 -ilişkili periyodik sendrom","synonyms":["TRAPS sendromu","Ailesel Hibernian ateşi","TNF reseptörü 1 ile ilişkili periyodik sendrom"]}},"xrefs":[{"source":"OMIM","code":"142680","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1869883509"},{"source":"MONDO","code":"0007727","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7727","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275126","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8457","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067774","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":[],"genes":[{"symbol":"TNFRSF1A","name":"TNF receptor superfamily member 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22059991[PMID]","hgnc":"11916","ensembl":"ENSG00000067182","omim":"191190","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","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:0001055","label":"Erysipelas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001954","label":"Recurrent fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100796","label":"Orchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100781","label":"Abnormality of the sacroiliac joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100537","label":"Fasciitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100776","label":"Recurrent pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}