{"orpha":1467,"name":"Cogan syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1467/","orphanet_url":"https://www.orpha.net/en/disease/detail/1467","names":{"fr":{"name":"Syndrome de Cogan","definition":"Maladie auto-inflammatoire ou auto-immune rare d'origine inconnue caractérisée par une kératite interstitielle (KI) et des dysfonctionnements audiovestibulaires."},"de":{"name":"Cogan-Syndrom","definition":"Eine seltene entzündliche/Autoimmunerkrankung unbekannter Herkunft, die durch interstitielle Keratitis (IK) und audiovestibuläre Störungen gekennzeichnet ist."},"es":{"name":"Síndrome de Cogan","definition":"Es un trastorno inflamatorio/ autoinmune poco frecuente de origen desconocido caracterizado por queratitis intersticial (QI) y disfunción audiovestibular."},"it":{"name":"Sindrome di Cogan","definition":"La sindrome di Cogan (CS) è una malattia infiammatoria/autoimmune rara, caratterizzata da cheratite interstiziale (CI) e disfunzioni audio-vestibolari. L'eziologia non è nota."},"nl":{"name":"Syndroom van Cogan","definition":"Een zeldzame inflammatoire/auto-immuunstoornis met onbekende oorsprong, gekarakteriseerd door interstitiële keratitis (IK) en audiovestibulaire disfuncties."},"pt":{"name":"Síndrome Cogan","definition":"Uma doença inflamatória/autoimune rara de origem desconhecida, caracterizada por queratite intersticial (CI) e disfunções audiovestibulares."},"pl":{"name":"Zespół Cogana"},"cs":{"name":"Coganův syndrom"},"uk":{"name":"Синдром Когана","definition":"A rare inflammatory/autoimmune disorder of unknown origin characterized by interstitial keratitis (IK) and audiovestibular dysfunctions."},"zh":{"name":"Cogan综合征"},"tr":{"name":"Cogan sendromu"}},"xrefs":[{"source":"ICD-10","code":"H16.3","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"4A44.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2098089327"},{"source":"MONDO","code":"0015453","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055952","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271270","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1421","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056667","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156140,"name":"Predominantly large-vessel vasculitis","classifications":[196,198]},{"orpha":519290,"name":"Rare inflammatory/autoimmune corneal disorder","classifications":[189]},{"orpha":98036,"name":"Rare otorhinolaryngologic disease","classifications":[200]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"18037121[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-22","source":"25854487[PMID]_3486332[PMID]_6969345[PMID]","terms":[{"hpo":"HP:0001751","label":"Abnormal vestibular function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100534","label":"Episcleritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005310","label":"Large vessel vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100532","label":"Scleritis","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}]}}