{"orpha":293621,"name":"X-linked endothelial corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XECD"],"definition":"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293621/","orphanet_url":"https://www.orpha.net/en/disease/detail/293621","names":{"fr":{"name":"Dystrophie cornéenne endothéliale liée à l'X","synonyms":["XECD"],"definition":"La dystrophie cornéenne endothéliale liée à l'X (XECD) est un sous-type rare de dystrophie cornéenne postérieure caractérisé par une cornée nuageuse en verre dépoli ou un voile cornéen, et une vision brouillée chez les patients de sexe masculin."},"de":{"name":"Endothel-Hornhautdystrophie, X-chromosomale","synonyms":["XECD"],"definition":"Die X-chromosomale endotheliale Hornhautdystrophie (XECD) ist ein seltener Subtyp der hinteren Hornhautdystrophie (s. dort) und gekennzeichnet durch kongenitale milchglasartige Trübungen der Hornhaut oder durch einen diffusen Hornhaut-Nebel und verschwommenes Sehen bei männlichen Patienten."},"es":{"name":"Distrofia corneal endotelial ligada al cromosoma X","synonyms":["XECD"],"definition":"La distrofia corneal endotelial ligada al cromosoma X (XECD) es un subtipo poco frecuente de distrofia corneal posterior (ver este término) caracterizada por manchas lechosas congénitas que presentan una apariencia de vidrio molido o de bruma difusa y visión borrosa en los pacientes varones."},"it":{"name":"Distrofia corneale endoteliale legata all'X","synonyms":["XECD"],"definition":"La distrofia corneale endoteliale legata all'X (XECD) è un sottotipo raro di distrofia corneale posteriore (si veda questo termine), caratterizzato da opacamento corneale a vetro smerigliato o opacamento diffuso della cornea, con vista appannata nei maschi."},"nl":{"name":"X-gebonden endotheliale corneadystrofie","synonyms":["X-gebonden endotheliale hoornvliesdystrofie","XECD"],"definition":"X-gebonden endotheliale corneadystrofie (XECD) is een zeldzaam subtype van posterieure corneadystrofie (zie deze term) gekenmerkt door congenitale matglazen corneatroebeling of een diffuse corneale waas, en een wazig zicht bij mannelijke patiënten."},"pt":{"name":"Distrofia corneana endotelial ligada ao X","synonyms":["XECD"]},"pl":{"name":"Dystrofia śródbłonka rogówki sprzężona z chromosomem X","synonyms":["XECD"],"definition":"Dystrofia śródbłonka rogówki sprzężona z chromosomem X (XECD) jest rzadkim podtypem tylnej dystrofii rogówki , charakteryzującym się wrodzoną szklistością rogówki lub rozproszonym zamgleniem rogówki, oraz niewyraźnym widzeniem u mężczyzn."},"cs":{"name":"X-vázaná dystrofie endotelu rohovky","synonyms":["XECD"]},"uk":{"name":"Х-зчеплена ендотеліальна дистрофія рогівки","synonyms":["XECD"],"definition":"X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."},"zh":{"name":"x连锁内皮角膜营养不良","synonyms":["X连锁角膜内皮营养不良"],"definition":"X连锁内皮性角膜营养不良（XECD）是一种罕见的角膜后营养不良亚型，其特征是男性患者出现先天性磨玻璃样角膜混浊或弥漫性角膜混浊和视力模糊。"},"tr":{"name":"X'e bağlı endotelyal kornea distrofisi","synonyms":["XECD"]}},"xrefs":[{"source":"OMIM","code":"300779","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1842066261"},{"source":"MONDO","code":"0010426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567587","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2749049","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98627,"name":"Posterior corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"16490493[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-13","source":"16490493[PMID]","terms":[{"hpo":"HP:0011488","label":"Abnormal corneal endothelium morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000585","label":"Band keratopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100018","label":"Nuclear cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null}]}}