{"orpha":293603,"name":"Congenital hereditary endothelial dystrophy type II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive CHED","Autosomal recessive congenital hereditary endothelial dystrophy","CHED2","CHEDII","Congenital hereditary endothelial dystrophy type 2","Infantile hereditary endothelial dystrophy","Maumenee corneal dystrophy"],"definition":"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293603/","orphanet_url":"https://www.orpha.net/en/disease/detail/293603","names":{"fr":{"name":"Dystrophie endothéliale congénitale héréditaire type II","synonyms":["Dystrophie endothéliale héréditaire infantile","CHED autosomique récessive","CHED2","CHEDII","Dystrophie cornéenne de Maumenee","Dystrophie endothéliale congénitale autosomique récessive","Dystrophie endothéliale congénitale héréditaire type 2"],"definition":"La dystrophie endothéliale congénitale héréditaire type II (CHED II) est un sous-type rare de dystrophie cornéenne postérieure caractérisé par une cornée à l'aspect de verre dépoli diffus, un épaississement important de la cornée avec nystagmus dès la naissance ou dans la petite enfance, avec une vision brouillée."},"de":{"name":"Endotheldystrophie, hereditäre kongenitale, Typ II","synonyms":["CHED","CHED2","CHEDII","Endotheldystrophie, autosomal-rezessive kongenitale","Endotheldystrophie, hereditäre infantile","Endotheldystrophie, hereditäre kongenitale, 2","Hornhautdystrophie, endotheliale, Typ Maumenee"],"definition":"Die Kongenitale hereditäre endotheliale Dystrophie II (CHED II) ist ein seltener Subtyp der hinteren Hornhautdystrophie (s. dort) und gekennzeichnet durch diffus milchglasartiges Aussehen der Kornea, ausgeprägte Verdickung der Kornea von Geburt an, Nystagmus und verschwommenen Visus."},"es":{"name":"Distrofia endotelial hereditaria congénita II","synonyms":["CHED autosómica recesiva","CHED2","CHEDII","Distrofia corneal de Maumenee","Distrofia endotelial hereditaria congénita 2","Distrofia endotelial hereditaria congénita autosómica recesiva","Distrofia endotelial hereditaria infantil"],"definition":"La distrofia endotelial hereditaria congénita II (DEHC II) es un subtipo poco frecuente de distrofia corneal posterior (ver este término), caracterizada por una apariencia difusa de vidrio esmerilado en las córneas y marcado engrosamiento corneal desde el nacimiento con nistagmus y visión borrosa."},"it":{"name":"Distrofia endoteliale ereditaria congenita II","synonyms":["CHED autosomica recessiva","CHED2","CHEDII","Distrofia corneale di Maumenee","Distrofia endoteliale ereditaria congenita 2","Distrofia endoteliale ereditaria congenita autosomica recessiva","Distrofia endoteliale ereditaria infantile"],"definition":"La distrofia endoteliale ereditaria congenita II (CHED II) è un sottotipo raro della distrofia corneale posteriore (si veda questo termine), caratterizzata da cornea diffusamente a vetro smerigliato e da un marcato ispessimento della cornea sin dalla nascita o dal periodo neonatale, con nistagmo e con vista appannata."},"nl":{"name":"Congenitale hereditaire endotheliale dystrofie II","synonyms":["Autosomaal recessieve CHED","Autosomaal recessieve congenitale erfelijke endotheliale dystrofie","CHED2","CHEDII","Congenitale erfelijke endotheliale dystrofie 2","Infantiele erfelijke endotheliale dystrofie","Maumenee-corneadystrofie"],"definition":"Congenitale erfelijke endotheeldystrofie II (CHED II) is een zeldzaam subtype van posterieure corneadystrofie (zie deze term) gekenmerkt door een diffuus matglas-uitzicht van de cornea en duidelijke corneaverdikking vanaf de geboorte met nystagmus en wazig zicht."},"pt":{"name":"Distrofia endotelial hereditária congénita II","synonyms":["CHED autossómica recessiva","CHED2","CHEDII","Distrofia corneana de Maumenee","Distrofia endotelial hereditária congénita 2","Distrofia endotelial hereditária congénita, autossómica recessiva","Distrofia endotelial hereditária infantil"]},"pl":{"name":"Wrodzona dziedziczna dystrofia śródbłonka typu II","synonyms":["Autosomalna recesywna CHED","Autosomalna recesywna wrodzona dziedziczna dystrofia śródbłonka","CHED2","CHEDII","Dystrofia rogówki Maumenee","Dziecięca dziedziczna dystrofia śródbłonka","Wrodzona dziedziczna dystrofia śródbłonka typu 2"],"definition":"Wrodzona dziedziczna dystrofia śródbłonka typu II (CHED II) jest rzadkim podtypem tylnej dystrofii rogówki, charakteryzującym się rozmytym wyglądem szklistej rogówki oraz znacznym zgrubieniem rogówki od urodzenia z oczopląsem i niewyraźnym widzeniem."},"cs":{"name":"Vrozená dědičná dystrofie endotelu, typ II","synonyms":["Autozomálné recesivní CHED","CHED2","CHEDII","Hereditární infantilní dystrofie endotelu","Maumeneeova dystrofie rohovky","Autozomálně recesivní vrozená dědičná dystrofie endotelu","Vrozená dědičná dystrofie endotelu, typ 2"]},"uk":{"name":"Вроджена спадкова ендотеліальна дистрофія, тип ІІ","synonyms":["Аутосомно-рецесивна CHED","Аутосомно-рецесивна вроджена спадкова ендотеліальна дистрофія","CHED2","CHEDII","Вроджена спадкова ендотеліальна дистрофія 2 типу","Дитяча спадкова ендотеліальна дистрофія","Дистрофія рогівки Момене"],"definition":"Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision."},"zh":{"name":"先天性遗传性内皮营养不良II型","synonyms":["婴儿遗传性内皮营养不良"],"definition":"先天性遗传性内皮营养不良II型（CHED-II）是一种罕见的角膜后营养不良亚型（见本术语），其特征是角膜呈弥漫性磨玻璃样，出生后即有角膜明显增厚，伴眼球震颤和视力模糊。"},"tr":{"name":"Doğumsal kalıtsal endotelyal distrofi tip II","synonyms":["CHED2","CHEDII","Otozomal çekinik CHED","Maumenee korneal distrofi","İnfantil kalıtsal endotelyal distrofi","Doğumsal kalıtsal endotelyal distrofi tip 2","Otozomal çekinik doğumsal kalıtsal endotelyal distrofi"]}},"xrefs":[{"source":"OMIM","code":"217700","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":"1515754027"},{"source":"MONDO","code":"0009019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536439","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6196","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":[{"symbol":"SLC4A11","name":"solute carrier family 4 member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16767101[PMID]_24351571[PMID]","hgnc":"16438","ensembl":"ENSG00000088836","omim":"610206","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-06","source":"28583694[PMID]_19236704[PMID]_32491788[PMID]","terms":[{"hpo":"HP:0011490","label":"Abnormal Descemet membrane morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011487","label":"Increased corneal thickness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031792","label":"Irregular astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}