{"orpha":98954,"name":"Meesmann corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Juvenile hereditary epithelial dystrophy of Meesmann","MECD"],"definition":"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98954/","orphanet_url":"https://www.orpha.net/en/disease/detail/98954","names":{"fr":{"name":"Dystrophie cornéenne de Meesmann","synonyms":["Dystrophie épithéliale juvénile héréditaire de Meesmann","MECD"],"definition":"La dystrophie cornéenne de Meesmann est une forme rare de dystrophie cornéenne superficielle caractérisée par de petites opacités bilatérales bien nettes en forme de bulles rondes ou ovales ponctuées sur l'épithélium cornéen central, et dans une moindre mesure à la périphérie de la cornée, avec un faible impact sur la vision."},"de":{"name":"Meesmann-Hornhautdystrophie","synonyms":["Hornhautdystrophie, epitheliale juvenile, Typ Meesmann","MECD"],"definition":"Die Hornhautdystrophie Meesmann (MECD) ist eine seltene Form der oberflächlichen Hornhautdystrophie und gekennzeichnet durch distinkte sehr kleine blasenähnliche, rundlich bis ovale gepunktete Trübungen im zentralen Hornhautepithel beider Augen, und weniger ausgeprägt in der Peripherie der Kornea. Die Auswirkungen auf den Visus sind gering."},"es":{"name":"Distrofia corneal de Meesmann","synonyms":["Distrofia epitelial hereditaria juvenil de Meesmann","MECD"],"definition":"La distrofia corneal de Meesmann (MECD) es una forma rara de distrofia corneal superficial caracterizada por pequeñas opacidades bilaterales puntiformes, entre redondas y ovaladas, similares a una burbuja, en el epitelio central de la córnea, y, en menor medida, en la periferia de la córnea, con poco impacto en la visión."},"it":{"name":"Distrofia corneale di Meesmann","synonyms":["Distrofia epiteliale ereditaria giovanile di Messman","MECD"],"definition":"La distrofia corneale di Meesmann (MECD) è una forma rara di distrofia superficiale della cornea, caratterizzata da minuscole opacità punteggiate distinte, bilaterali, rotonde-ovali, simili a bolle, nell'epitelio corneale centrale e, in minore misura, nella cornea periferica, che hanno un limitato impatto sulla vista."},"nl":{"name":"Corneadystrofie van Meesmann","synonyms":["Juveniele erfelijke epitheliale dystrofie van Meesmann","MECD"],"definition":"Corneadystrofie van Meesmann (MECD) is een zeldzame vorm van oppervlakkige corneadystrofie gekenmerkt door opvallende kleine blaasachtige, ronde tot ovale gespikkelde bilaterale troebelingen in het centrale corneaepitheel en in mindere mate in de perifere cornea, met geringe impact op het gezichtsvermogen."},"pt":{"name":"Distrofia corneana epitelial, juvenil, tipo Meesmann"},"pl":{"name":"Dystrofia rogówki Meesmanna","synonyms":["MECD","Młodzieńcza dziedziczna dystrofia nabłonkowa Meesmanna"]},"cs":{"name":"Meesmannova dystrofie rohovky","synonyms":["Meesmannova dystrofie (juvenilní hereditární epitelová dystrofie)","MECD"]},"uk":{"name":"Дистрофія рогівки Месманна","synonyms":["Ювенільна спадкова епітеліальна дистрофія Месмана","MECD"],"definition":"Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision."},"zh":{"name":"Meesmann角膜营养不良","synonyms":["青少年遗传性Meesmann上皮营养不良"],"definition":"Meesmann角膜营养不良(MECD)是一种罕见的浅表性角膜营养不良，其特征是中央角膜上皮有明显的微小泡状、圆形至椭圆形斑点状双侧混浊，周边角膜也有少量混浊，对视力影响不大。"},"tr":{"name":"Meesmann kornea distrofisi","synonyms":["MECD","Meesmann'ın jüvenil kalıtsal epitel distrofisi"]}},"xrefs":[{"source":"OMIM","code":"122100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618767","qualifier":"BTNT","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":"431332257"},{"source":"MONDO","code":"0007379","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339277","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9688","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":"KRT12","name":"keratin 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9171831[PMID]","hgnc":"6414","ensembl":"ENSG00000187242","omim":"601687","loci":["17q21.2"]},{"symbol":"KRT3","name":"keratin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9171831[PMID]","hgnc":"6440","ensembl":"ENSG00000186442","omim":"148043","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}