{"orpha":575,"name":"Muckle-Wells syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neutrophilic urticaria"],"definition":"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-575/","orphanet_url":"https://www.orpha.net/en/disease/detail/575","names":{"fr":{"name":"Syndrome de Muckle-Wells","synonyms":["Urticaire neutrophilique"],"definition":"Le syndrome de Muckle-Wells (MWS) est une forme intermédiaire du syndrome périodique associé à la cryopyrine (CAPS) caractérisée par une fièvre récurrente (avec malaise et frissons), des éruptions cutanées urticariennes, une surdité neurosensorielle, des signes inflammatoires généraux (rougeur des yeux, céphalées, arthralgie/myalgie) et une amylose secondaire (de type AA) potentiellement fatale."},"de":{"name":"Muckle-Wells-Syndrom","synonyms":["MWS","Neutrophile Urtikaria"],"definition":"Das Muckle-Wells-Syndrom (MWS) ist eine Zwischenform des Cryopyrin-assoziierten periodischen Syndroms (CAPS; siehe dort) und gekennzeichnet durch rezidivierendes Fieber (mit Unwohlsein und Schüttelfrost), rezidivierenden urtikaria-ähnlichen Hautausschlag, sensorineurale Taubheit, allgemeine Entzündungszeichen (Augenrötung, Kopfschmerzen, Arthralgie/Myalgie) und eine potentiell lebensbedrohliche sekundäre Amyloidose (Typ AA)."},"es":{"name":"Síndrome de Muckle-Wells","synonyms":["Urticaria neutrofílica"],"definition":"El síndrome de Muckle-Wells (SMW) es una forma intermedia del síndrome periódico asociado a la criopirina (CAPS; consulte este término) que se caracteriza por fiebre recurrente (con malestar y escalofríos), erupción cutánea recurrente tipo urticaria, sordera neurosensorial, signos generales de inflamación (enrojecimiento de los ojos, dolores de cabeza, artralgia/mialgia) y amiloidosis secundaria potencialmente mortal (tipo AA)."},"it":{"name":"Sindrome di Muckle-Wells","synonyms":["Orticaria - sordità - amiloidosi","Orticaria neutrofila"]},"nl":{"name":"Syndroom van Muckle-Wells","synonyms":["Neutrofiele netelroos","Neutrofiele urticaria"],"definition":"Syndroom van Muckle-Wells (MWS) is een intermediaire vorm van cryopyrinegeassocieerd periodiek syndroom (CAPS; zie deze term) en wordt gekarakteriseerd door terugkerende koorts (met malaise en rillingen), terugkerende urticaria-achtige huiduitslag, sensorineuraal gehoorverlies, algemene kenmerken van inflammatie (rode ogen, hoofdpijn, artralgie/myalgie) en mogelijk levensbedreigende, secundaire amyloïdose (AA-type)."},"pt":{"name":"Síndrome Muckle-Wells","synonyms":["Urticária neutrofílica"]},"pl":{"name":"Zespół Muckle'a i Wellsa","synonyms":["Pokrzywka neutrofilowa"]},"cs":{"name":"Muckleův-Wellsův syndrom","synonyms":["Neutrofilní urtikarie","Muckle-Wellsův syndrom"]},"uk":{"name":"Синдром Макла-Уеллса","synonyms":["Нейтрофільна кропивянка"],"definition":"Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type)."},"zh":{"name":"Muckle-Wells综合征","synonyms":["中性粒细胞性荨麻疹"]},"tr":{"name":"Muckle-Wells sendromu","synonyms":["Nötrofilik ürtiker"]}},"xrefs":[{"source":"OMIM","code":"191900","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":"1983358487"},{"source":"MONDO","code":"0008633","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268390","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8472","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064569","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":567556,"name":"Genetic systemic disease with glomerulopathy as a major feature","classifications":[156,188,233]},{"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) in","status":"Assessed","source":"11687797[PMID]","hgnc":"16400","ensembl":"ENSG00000162711","omim":"606416","loci":["1q44"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","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:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100534","label":"Episcleritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011107","label":"Recurrent aphthous stomatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null}]}}