{"orpha":647815,"name":"Keratitis fugax hereditaria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KFH","Keratoendotheliitis fugax hereditaria"],"definition":"A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-647815/","orphanet_url":"https://www.orpha.net/en/disease/detail/647815","names":{"fr":{"name":"Kératite fugace héréditaire","synonyms":["Kérato-endothélite héréditaire fugace","Kératoendothélite héréditaire fugace"],"definition":"Maladie ophtalmique rare caractérisée par des crises périodiques d'inflammation de la cornée se manifestant par une douleur oculaire unilatérale, une hyperémie conjonctivale, une photophobie et un épiphora persistant de 1 à 3 jours, suivis d'une vision floue pendant plusieurs semaines."},"de":{"name":"Keratoendotheliitis fugax hereditaria","synonyms":["KFH"],"definition":"Eine seltene Augenerkrankung, die durch periodische Entzündungsschübe der Hornhaut gekennzeichnet ist, die sich in einseitigen Augenschmerzen, Bindehauthyperämie, Photophobie und Epiphora äußern, die 1 bis 3 Tage andauern, gefolgt von verschwommenem Sehen über mehrere Wochen."},"es":{"name":"Queratoendotelitis fugaz hereditaria","definition":"Es un trastorno oftálmico poco frecuente caracterizado por ataques inflamatorios periódicos de la córnea que se manifiestan como dolor ocular unilateral, hiperemia conjuntival, fotofobia y epífora de 1 a 3 días de duración, seguidos de visión borrosa durante varias semanas."},"it":{"name":"Cheratoendotelite fugace ereditaria","synonyms":["KFH"]},"nl":{"name":"Keratitis fugax hereditaria","synonyms":["KFH","Keratoendotheliitis fugax hereditaria"],"definition":"Een zeldzame aandoening van oog, gekenmerkt door periodieke inflammatoire aanvallen van hoornvlies die zich manifesteren als unilaterale pijn in het oog, hyperemie van conjunctiva, fotofobie en epifora (tranende ogen) gedurende 1 tot 3 dagen, gevolgd door troebel zicht gedurende meerdere weken."},"pt":{"name":"Queratoendotelite fugax hereditária","synonyms":["KFH"],"definition":"Doença oftálmológica rara caracterizado por episódios inflamatórios periódicos da córnea que se manifestam como dor ocular unilateral, hiperemia conjuntival, fotofobia e epífora com duração de 1 a 3 dias, seguidos de visão turva por várias semanas."},"pl":{"name":"Dziedziczne napadowe zapalenie śródbłonka rogówki","synonyms":["KFH","Keratoendotheliitis fugax hereditaria"]},"cs":{"name":"Keratitis fugax hereditaria","synonyms":["KFH","Keratoendotheliitis fugax hereditaria"]},"uk":{"name":"Спадковий fugax кератит","synonyms":["Спадковий кератоендотеліїт фугасний","KFH"],"definition":"A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks."}},"xrefs":[{"source":"OMIM","code":"148200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H16.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C61.25","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"867127638"},{"source":"MONDO","code":"0007849","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835697","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":208650,"name":"NLRP3-associated autoinflammatory disease","classifications":[156,187,195,196,231]},{"orpha":519329,"name":"Rare disorder involving multiple structures of the eye","classifications":[189]}],"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":"36275641[PMID]","hgnc":"16400","ensembl":"ENSG00000162711","omim":"606416","loci":["1q44"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}