{"orpha":293936,"name":"EDICT syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant keratoconus with early-onset anterior polar cataracts","Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome","Familial keratoconus with cataract","KTCNCT"],"definition":"A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293936/","orphanet_url":"https://www.orpha.net/en/disease/detail/293936","names":{"fr":{"name":"Syndrome EDICT","synonyms":["KTCNCT","Kératocône autosomique dominant avec cataracte polaire antérieure précoce","Kératocône familial avec cataracte","Syndrome de dystrophie endothéliale-hypoplasie de l'iris-cataracte congénitale-amincissement stromal"],"definition":"Maladie oculaire rare, autosomique dominante, caractérisée par un ensemble de manifestations oculaires héréditaires, notamment une cataracte précoce ou congénitale, un amincissement du stroma cornéen, un kératocône précoce, une dystrophie cornéenne endothéliale et une hypoplasie de l'iris."},"de":{"name":"EDICT-Syndrom","synonyms":["Endotheldystrophie-Irishypoplasie-kongenitale Katarakt-Stroma-Ausdünnung-Syndrom","KTCNCT","Keratokonus -anteriore polare Katarakt, autosomal-dominant","Keratokonus mit Katarakt, familiär"],"definition":"Eine seltene, autosomal-dominante Augenerkrankung, die durch eine Konstellation erblicher Augenbefunde gekennzeichnet ist, einschließlich frühzeitiger oder kongenitaler Katarakt, Hornhautstromaverdünnung, frühzeitigem Keratokonus, Hornhautendotheldystrophie und Irishypoplasie."},"es":{"name":"Síndrome EDICT","synonyms":["Síndrome de distrofia endotelial-hipoplasia del iris-catarata congénita-adelgazamiento estromal","KTCNCT","Queratocono autosómico dominante con cataratas polares anteriores de inicio precoz","Queratocono familiar con cataratas"],"definition":"Es un trastorno ocular autosómico de herencia dominante poco frecuente que representa una constelación de hallazgos oculares que incluye cataratas de inicio temprano o congénitas, adelgazamiento del estroma corneal, queratocono de inicio temprano, distrofia endotelial corneal, e hipoplasia del iris."},"it":{"name":"Sindrome EDICT","synonyms":["Cheratocono autosomico dominante con cataratte polari anteriori a esordio precoce","Cheratocono familiare con cataratta","KTCNCT","Sindrome distrofia endoteliale-ipoplasia iridea-cataratta congenita-assottigliamento stromale"],"definition":"La sindrome EDICT (distrofia endoteliale-ipoplasia dell'iride-cataratta congenita- assottigliamento dello stroma) è una malattia oculare molto rara, caratterizzata da cataratta congenita o ad esordio precoce, assottigliamento dello stroma corneale, cheratocono ad esordio precoce, distrofia endoteliale della cornea e ipoplasia dell'iride, a trasmissione autosomica dominante."},"nl":{"name":"EDICT-syndroom","synonyms":["Autosomaal dominante keratoconus met vroeg aanvangend anterieur polair cataract","Autosomaal dominante keratoconus met vroeg aanvangend voorste polair cataract","Endotheliale dystrofie - irishypoplasie - congenitaal cataract - stromale verdunning-syndroom","Familiale keratoconus met cataract","KTCNCT"],"definition":"Een zeldzame autosomaal dominante aandoening van oog, gekenmerkt door een constellatie van erfelijke oculaire bevindingen, waaronder vroeg optredend of congenitaal cataract, verdunning van stroma van hoornvlies, vroeg optredende keratoconus, dystrofie van endotheel van cornea, en hypoplasie van iris."},"pt":{"name":"Síndrome EDICT","synonyms":["KTCNCT","Queratocone autossómico dominante com catarata polar anterior de início precoce","Queratocone familiar com catarata","Síndrome de distrofia endotelial-hipoplasia da íris-catarata congénita-adelgaçamento do estroma"]},"pl":{"name":"Zespół EDICT","synonyms":["Autosomalny dominujący stożek rogówki z zaćmą biegunową o wczesnym początku","KTCNCT","Rodzinny stożek rogówki z zaćmą","Zespół dystrofia śródbłonka-hipoplazja tęczówki-zaćma wrodzona-ścieńczenie zrębu"]},"cs":{"name":"Familiární keratokonus s kataraktou","synonyms":["EDICT syndrom","KTCNCT","Autozomálně dominantní keratokonus s přední polární kataraktou s časným nástupem","Syndrom zahrnující dystrofii endotelu, hypoplázii duhovky, vrozenou kataraktu a stromální ztenčení"]},"uk":{"name":"Синдром EDICT","synonyms":["Аутосомно-домінантний кератоконус з ранньою передньою полярною катарактою","Ендотеліальна дистрофія - гіпоплазія райдужки - вроджена катаракта - синдром стоншення строми","Сімейний кератоконус з катарактою","KTCNCT"],"definition":"A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia."},"zh":{"name":"内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征","synonyms":["内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征"],"definition":"内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征是一种非常罕见的眼部疾病，表现为一系列常染色体显性遗传眼部表现，包括早发性或先天性白内障、角膜基质变薄、早发性圆锥角膜、角膜内皮营养不良和虹膜发育不良。"},"tr":{"name":"EDICT sendromu","synonyms":["KTCNCT","Katarakt ile seyreden ailesel keratokonus","Erken başlangıçlı anterior polar katarakt ile seyreden otozomal baskın keratokonus","Endotel distrofisi-iris hipoplazisi-doğumsal katarakt-stromal incelme sendromu"]}},"xrefs":[{"source":"OMIM","code":"614303","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280392","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522564,"name":"Syndromic genetic keratoconus","classifications":[156]},{"orpha":98623,"name":"Syndromic keratoconus","classifications":[189]}],"children":[],"genes":[{"symbol":"MIR184","name":"microRNA 184","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21996275[PMID]","hgnc":"31555","ensembl":"ENSG00000207695","omim":"613146","loci":["15q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22131394[PMID]_24138095[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22131394[PMID]_24138095[PMID]"}],"phenotypes":null}