{"orpha":2331,"name":"Kawasaki disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mucocutaneous lymph node syndrome"],"definition":"A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2331/","orphanet_url":"https://www.orpha.net/en/disease/detail/2331","names":{"fr":{"name":"Maladie de Kawasaki","synonyms":["Syndrome lympho-cutanéo-muqueux"],"definition":"Maladie inflammatoire rare caractérisée par une vascularite fébrile aiguë, systémique, autolimitée et de taille moyenne, qui touche principalement les enfants. Elle provoque souvent une artérite coronarienne aiguë qui est associée à des anévrismes artériels coronariens (AAC) qui peuvent engager le pronostic vital s'ils ne sont pas traités."},"de":{"name":"Kawasaki-Krankheit","synonyms":["Kawasaki-Syndrom","Mukokutanes Lymphknotensyndrom"],"definition":"Seltene entzündliche Erkrankung, die durch eine akute fieberhafte, systemische, selbstlimitierende Vaskulitis der mittleren Gefäße gekennzeichnet ist und hauptsächlich Kinder betrifft. Sie verursacht häufig eine akute Koronararteriitis, die mit koronararteriellen Aneurysmen (CAA) assoziiert ist, die unbehandelt lebensbedrohlich sein können."},"es":{"name":"Enfermedad de Kawasaki","synonyms":["Síndrome linfo-cutáneo-mucoso"],"definition":"Es una enfermedad inflamatoria poco frecuente caracterizada por vasculitis primaria aguda de vasos medianos sistémica, autolimitada y febril que afecta principalmente a niños. Con frecuencia causa arteritis coronaria aguda que asocia aneurismas de la arteria coronaria (AAC) potencialmente mortales en ausencia de tratamiento."},"it":{"name":"Malattia di Kawasaki","synonyms":["Sindrome linfo-cutaneo-mucosa"],"definition":"Si tratta di una malattia infiammatoria rara, caratterizzata da vasculite sistemica acuta febbrile autolimitante dei vasi di medie dimensioni, che colpisce prevalentemente i bambini. Spesso causa un'arterite coronarica acuta associata ad aneurismi delle arterie coronarie (CAA) che, se non trattati, sono potenzialmente letali."},"nl":{"name":"Ziekte van Kawasaki","synonyms":["Mucocutaan lymfekliersyndroom"],"definition":"Een zeldzame, inflammatoire ziekte, gekarakteriseerd door een acute febriele, systemische, zelfbeperkende vasculitis van middelgrote bloedvaten die voornamelijk kinderen treft. De ziekte veroorzaakt vaak acute coronaire arteritis geassocieerd met coronaire arteriële aneurysmata (CAA) die levensbedreigend kunnen zijn wanneer ze niet worden behandeld."},"pt":{"name":"Doença de Kawasaki","synonyms":["Síndrome de nódulos linfáticos mucocutâneos"],"definition":"Doença inflamatória rara caracterizada por um estado febril agudo, com vasculite de vasos de calibre médio, auto-limitada, sistémica que, em primeiro lugar afecta as crianças. Habitualmente origina arterite coronária aguda a que se associam os aneurismas arteriais coronários que poderão ser fatais, quando não tratados."},"pl":{"name":"Choroba Kawasakiego","synonyms":["Zespół skórno-śluzówkowy węzłów chłonnych"]},"cs":{"name":"Kawasakiho syndrom","synonyms":["Mukokutánní lymfatický syndrom"]},"uk":{"name":"Хвороба Кавасакі","synonyms":["Синдром підшкірних лімфатичних вузлів"],"definition":"A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated."},"zh":{"name":"川崎病","synonyms":["皮肤粘膜淋巴结综合征"]},"tr":{"name":"Kawasaki hastalığı","synonyms":["Mukokutanöz lenf nodu sendromu"]}},"xrefs":[{"source":"OMIM","code":"611775","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M30.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A44.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"540285662"},{"source":"MONDO","code":"0012727","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026691","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6816","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023320","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156143,"name":"Predominantly medium-vessel vasculitis","classifications":[196,198]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-11-10","source":"15505111[PMID]_24162006[PMID]","terms":[{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025493","label":"Palmoplantar erythema","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100776","label":"Recurrent pharyngitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100643","label":"Abnormality of nail color","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031250","label":"Lip fissure","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025538","label":"Palmar edema","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025537","label":"Plantar edema","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025525","label":"Scaling skin on fingertip","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031042","label":"Strawberry tongue","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011658","label":"Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100586","label":"Sterile pyuria","frequency":"Occasional (29-5%)","criteria":null}]}}