{"orpha":293381,"name":"Epithelial recurrent erosion dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Recurrent hereditary corneal erosions"],"definition":"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293381/","orphanet_url":"https://www.orpha.net/en/disease/detail/293381","names":{"fr":{"name":"Dystrophie par érosions épithéliales récurrentes","synonyms":["DEER","Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Erosions épithéliales récurrentes héréditaires"],"definition":"La dystrophie par érosions épithéliales récurrentes (DEER) est une forme rare de dystrophie cornéenne superficielle caractérisée par des épisodes récurrents d'érosions épithéliales débutant dans l'enfance, sans autre maladies associées, conduisant parfois à une détérioration de la vision."},"de":{"name":"Rezidivierende Epithelerosions-Dystrophie","synonyms":["Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Hornhauterosion, hereditäre rekurrente","Rezidivierende hereditäre Hornhauterosionen"],"definition":"Die Rezidivierende Epithelerosions-Dystrophie (ERED) ist eine seltene Form der oberflächlichen Hornhautdystrophien (s. dort) und gekennzeichnet durch in der Kindheit beginnende rezidivierende episodische Epithelerosionen mit gelegentlich eingeschränktem Visus. Begleitende Krankheiten fehlen."},"es":{"name":"Distrofia por erosiones epiteliales recurrentes","synonyms":["Distrofia Helsinglandica","Distrofia Smolandiensis","ERED","Erosiones corneales hereditarias recurrentes"],"definition":"La distrofia por erosiones epiteliales recurrentes (ERED; de sus siglas en inglés) es una forma rara de distrofia corneal superficial (consulte este término) caracterizada por episodios recurrentes de erosiones epiteliales desde la infancia en ausencia de enfermedades asociadas, con deterioro ocasional de la visión."},"it":{"name":"Distrofia da erosione epiteliale ricorrente","synonyms":["Distrofia Helsinglandica","Distrofia Smolandiensis","ERED","Erosioni corneali ereditarie ricorrenti"],"definition":"La distrofia da erosione epiteliale ricorrente (ERED) è una forma rara di distrofia superficiale della cornea (si veda questo termine), caratterizzata da episodi ricorrenti di erosioni epiteliali a partire dall'infanzia, in assenza di malattie correlate, con deficit visivo occasionale."},"nl":{"name":"Epitheliale terugkerende erosiedystrofie","synonyms":["Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Terugkerende erfelijke cornea-erosies"],"definition":"Epitheliale terugkerende erosiedystrofie (ERED) is een zeldzame vorm van oppervlakkige corneadystrofie (zie deze term), gekenmerkt door terugkerende episoden van epitheelerosies vanaf de kindertijd bij afwezigheid van geassocieerde ziekten, met occasionele visusachteruitgang."},"pt":{"name":"Distrofia de erosão epitelial recorrente","synonyms":["ERED","Erosão corneana hereditária recorrente","Distrofia Helsinglandica","Distrofia Smolandiensis"]},"pl":{"name":"Dystrofia nawracających ubytków nabłonka","synonyms":["Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Nawracajace dziedziczne ubytki rogówki"]},"cs":{"name":"Rekurentní erozivní dystrofie epitelu rohovky","synonyms":["Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Dědičné recidivující eroze rohovky"]},"uk":{"name":"Епітеліальна рецидивуюча ерозивна дистрофія","synonyms":["Дистрофія Гельсінгландії","Смоленська дистрофія","ERED","Рецидивуючі спадкові ерозії рогівки"],"definition":"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision."},"zh":{"name":"上皮反复糜烂性营养不良","synonyms":["复发性遗传性角膜糜烂"],"definition":"上皮复发性糜烂性营养不良（ERED）是一种罕见的浅表性角膜营养不良（见本术语），其特征是在无相关疾病情况下，从儿童期开始反复发作的上皮糜烂，偶伴视力损害。"},"tr":{"name":"Epitelyal tekrarlayan erozyon distrofisi","synonyms":["ERED","Smolandiensis distrofisi","Helsinglandica distrofisi","Tekrarlayan kalıtsal kornea erozyonları"]}},"xrefs":[{"source":"OMIM","code":"122400","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1105690299"},{"source":"MONDO","code":"0007381","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565155","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522562,"name":"Genetic superficial corneal dystrophy","classifications":[156]},{"orpha":98625,"name":"Superficial corneal dystrophy","classifications":[189]}],"children":[],"genes":[{"symbol":"COL17A1","name":"collagen type XVII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25676728[PMID]","hgnc":"2194","ensembl":"ENSG00000065618","omim":"113811","loci":["10q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":186.0,"area":"Worldwide","status":"Validated","source":"18700883[PMID]_6887751[PMID]_12035594[PMID]_18700883[PMID]_187789[PMID]_19710953[PMID]_20597871[PMID]"},{"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":"2021-05-04","source":"30760455[PMID]_31301286[PMID]_26786512[PMID]_29708937[PMID]_32491788[PMID]","terms":[{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008039","label":"Subepithelial corneal opacities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031792","label":"Irregular astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null}]}}