{"orpha":64734,"name":"Iridocorneal endothelial syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ICE syndrome"],"definition":"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64734/","orphanet_url":"https://www.orpha.net/en/disease/detail/64734","names":{"fr":{"name":"Syndrome irido-cornéo-endothélial","synonyms":["Syndrome ICE"],"definition":"Le syndrome irido-cornéo-endothélial (ICE) comprend un groupe d'endothéliopathies prolifératives cornéennes progressives, incluant le syndrome de Chandler, le syndrome de Cogan-Resse et l'atrophie essentielle de l'iris. Le syndrome ICE, survenant le plus souvent chez les jeunes femmes, est caractérisé par la présence d'une atrophie et de trous iriens, d'une distorsion pupillaire, des synéchies antérieures, d'un oedème cornéen et des complications telles qu'un glaucome secondaire et une défaillance cornéenne."},"de":{"name":"Iridokorneales endotheliales Syndrom","synonyms":["ICE-Syndrom"],"definition":"Das Irido-korneale (ICE) Syndrom umfasst eine Gruppe von progressiven proliferativen Endotheliopathien der Kornea: Chandler-Syndrom, Cogan-Reese-Syndrom und Essentielle Irisatrophie (s.diese Termini). Betroffen sind vor allem junge erwachsene Frauen. Kennzeichnend sind Irislöcher und -atrophie, papilläre Verzerrung, vordere Synechien und Hornhautödem. Häufige Komplikationen sind sekundäres Glaukom und Verlust der Hornhautstruktur."},"es":{"name":"Síndrome endotelial iridocorneal","synonyms":["Síndrome ICE"],"definition":"El síndrome endotelial iridocorneal (ICE) describe un grupo de endoteliopatías proliferativas corneales progresivas compuesto por el síndrome de Chandler, el síndrome de Cogan-Reese y la atrofia esencial del iris (consulte estos términos), que afecta principalmente a mujeres adultas jóvenes, y que se caracteriza por agujeros en el iris y atrofia, distorsión papilar, sinequia anterior, edema corneal además de, con frecuencia, complicaciones como glaucoma secundario y descompensación corneal."},"it":{"name":"Sindrome endoteliale iridocorneale","synonyms":["Sindrome ICE"],"definition":"La sindrome endoteliale iridocorneale (ICE) descrive un gruppo di endoteliopatie proliferative corneali progressive, che comprendono la sindrome di Chandler, la sindrome di Cogan-Reese e l'atrofia essenziale dell'iride (si vedano questi termini), che interessano prevalentemente le donne adulte e si caratterizzano per atrofia e buchi nell'iride, distorsione papillare, sinechie anteriori, edema corneale e, spesso di complicano con il glaucoma secondario e lo scompenso corneale."},"nl":{"name":"Iridocorneaal endotheliaal syndroom","synonyms":["ICE-syndroom"],"definition":"Een groep van progressieve proliferatieve endotheliopathieën van cornea, bestaande uit syndroom van Chandler, syndroom van Cogan-Reese en essentiële irisatrofie, die vooral jonge volwassen vrouwen treffen, en gekenmerkt worden door gaten in iris, atrofie van iris, vervorming van papil, anterieure synechieën, corneaoedeem, vaak met secundair glaucoom en corneale decompensatie als complicaties."},"pt":{"name":"Síndrome endotelial irido-corneano","synonyms":["Síndrome ICE"]},"pl":{"name":"Zespół śródbłonkowy tęczówkowo-rogówkowy","synonyms":["Zespół ICE"]},"cs":{"name":"Iridokorneální endoteliální syndrom","synonyms":["ICE syndrom"]},"uk":{"name":"Іридокорнеальний ендотеліальний синдром","synonyms":["ДВЗ-синдром"],"definition":"Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications"},"zh":{"name":"虹膜角膜内皮综合征","synonyms":["ICE综合征"]},"tr":{"name":"Iridokorneal endotel sendromu","synonyms":["ICE sendromu"]}},"xrefs":[{"source":"ICD-10","code":"H21.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"265074385"},{"source":"MONDO","code":"0018988","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D057129","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1096100","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"60","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053678","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98631,"name":"Congenital malformation of the eye with glaucoma as a major feature","classifications":[147,189]},{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","classifications":[156]}],"children":[{"orpha":98979,"name":"Chandler syndrome","type":"Clinical subtype"},{"orpha":98980,"name":"Cogan-Reese syndrome","type":"Clinical subtype"},{"orpha":98981,"name":"Essential iris atrophy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"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":"2021-09-09","source":"29331589[PMID]_29670326[PMID]","terms":[{"hpo":"HP:0011489","label":"Abnormal migration of corneal endothelium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011483","label":"Anterior synechiae of the anterior chamber","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009918","label":"Ectopia pupillae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001089","label":"Iris atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025309","label":"Abnormal pupil shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007818","label":"Central heterochromia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007990","label":"Hypoplastic iris stroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011525","label":"Iris nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011500","label":"Polycoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011484","label":"Posterior synechiae of the anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025358","label":"Uveal ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Very rare (<4-1%)","criteria":null}]}}