{"orpha":2334,"name":"Autosomal dominant keratitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary keratitis"],"definition":"A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2334/","orphanet_url":"https://www.orpha.net/en/disease/detail/2334","names":{"fr":{"name":"Kératite autosomique dominante","synonyms":["Kératite héréditaire"],"definition":"Maladie inflammatoire génétique cornéenne rare, caractérisée par une opacification stromale de la cornée antérieure et une vascularisation de la cornée périphérique, avec possibilité de progression centrale et une réduction subséquente de l'acuité visuelle. Les caractéristiques variables comprennent des anomalies de l'iris, telles que des défauts du stroma et un ectropion uvéal, ainsi qu'une hypoplasie fovéale."},"de":{"name":"Keratitis, autosomal-dominante","synonyms":["Keratitis, hereditäre"],"definition":"Eine seltene hereditäre Keratitis, die durch eine anteriore stromale Hornhauttrübung und eine Vaskularisierung der peripheren Hornhaut mit potenzieller zentraler Progression und anschließender Verringerung der Sehschärfe gekennzeichnet ist. Zu den variablen Merkmalen gehören Anomalien der Iris, wie Stromadefekte und Ektropium uveae, sowie eine Foveahypoplasie."},"es":{"name":"Queratitis autosómica dominante","synonyms":["Queratitis hereditaria"],"definition":"Es un trastorno inflamatorio de la córnea, de origen genético poco frecuente, caracterizado por opacificación del estroma anterior de la córnea y vascularización de la córnea periférica con posible progresión central y posterior reducción de la agudeza visual. Las características variables incluyen anomalías del iris, como defectos del estroma y ectropión úvea, así como hipoplasia foveal."},"it":{"name":"Cheratite autosomica dominante","synonyms":["Cheratite ereditaria"]},"nl":{"name":"Autosomaal dominante keratitis","synonyms":["Erfelijke keratitis"],"definition":"Een zeldzame genetische inflammatoire aandoening van cornea, gekenmerkt door anterieure stromale hoornvliestroebelingen en vascularisatie van perifere cornea met mogelijk centrale progressie en vervolgens afname van gezichtsscherpte. Variabele kenmerken zijn onder meer afwijkingen van iris, zoals stromale defecten en ectropion uveae, alsook foveale hypoplasie."},"pt":{"name":"Queratite autossómica dominante","synonyms":["Queratite hereditária"],"definition":"Doença inflamatória genética rara da córnea caracterizada por opacificação estromal anterior da córnea e vascularização da córnea periférica com potencial progressão central e subsequente redução da acuidade visual. Características variáveis ​​incluem anomalias da íris, como defeitos estromais e ectrópio uveae, bem como hipoplasia foveal."},"pl":{"name":"Autosomalne dominujące zapalenie rogówki","synonyms":["Dziedziczne zapalenie rogówki"],"definition":"Rzadka, genetycznie uwarunkowana choroba zapalna rogówki charakteryzująca się zmętnieniem przedniego odcinka zrębu rogówki i waskularyzacją obwodowej części rogówki z potencjalną progresją centralną i późniejszym zmniejszeniem ostrości widzenia. Zmienne cechy obejmują nieprawidłowości tęczówki, takie jak ubytki zrębu i wywinięcie błony naczyniowej oka, a także hipoplazję dołka."},"cs":{"name":"Autozomálně dominantní keratitida","synonyms":["Hereditární keratitida","Dědičná keratitida"]},"uk":{"name":"Аутосомно-домінантний кератит","synonyms":["Спадковий кератит"],"definition":"A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia."},"zh":{"name":"常染色体显性角膜炎","synonyms":["遗传性角膜炎"]},"tr":{"name":"Otozomal dominant keratit","synonyms":["Kalıtsal keratit"]}},"xrefs":[{"source":"OMIM","code":"148190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H16.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"682617640"},{"source":"MONDO","code":"0007848","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835698","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522566,"name":"Rare genetic inflammatory/autoimmune corneal disorder","classifications":[156]},{"orpha":519290,"name":"Rare inflammatory/autoimmune corneal disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7668281[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"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":"2021-06-30","source":"7668281[PMID]_7627897[PMID]_24138039[PMID]_22171686[PMID]","terms":[{"hpo":"HP:0000491","label":"Keratitis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025348","label":"Abnormality of the corneal limbus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007990","label":"Hypoplastic iris stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032107","label":"Limbal stem cell deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001104","label":"Macular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006934","label":"Congenital nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null}]}}