{"orpha":98967,"name":"Schnyder corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Crystalline stromal dystrophy","Hereditary crystalline stromal dystrophy of Schnyder","SCCD","SCD","Schnyder crystalline corneal dystrophy","Schnyder crystalline dystrophy sine crystals"],"definition":"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98967/","orphanet_url":"https://www.orpha.net/en/disease/detail/98967","names":{"fr":{"name":"Dystrophie cornéenne de Schnyder","synonyms":["Dystrophie cornéenne cristalline de Schnyder","Dystrophie cristalline de Schnyder sans cristaux","Dystrophie stromale cristalline","Dystrophie stromale cristalline héréditaire de Schnyder","SCCD"],"definition":"La dystrophie cornéenne de Schnyder (DCS) est une forme rare de dystrophie cornéenne stromale caractérisée par une opacification de la cornée ou des cristaux dans le stroma cornéen, et une baisse progressive de l'acuité visuelle."},"de":{"name":"Schnyder-Hornhautdystrophie","synonyms":["Kristalline stromale Dystrophie","SCCD","SCD","Schnyder’sche kristalline Hornhautdystrophie"],"definition":"Die Hornhautdystrophie Typ Schnyder (SCD) ist eine seltene Form der Stroma-Hornhautdystrophie (s. dort) und gekennzeichnet durch Trübung oder Kristallablagerung im Hornhautstroma und progrediente Abnahme der Sehkraft."},"es":{"name":"Distrofia corneal cristalina de Schnyder","definition":"La distrofia corneal de Schnyder (SCD) es una forma rara de distrofia corneal (consulte este término) caracterizada por opacificación de la córnea o por cristales en el estroma corneal, y una disminución progresiva de la agudeza visual."},"it":{"name":"Distrofia corneale cristallina di Schnyder","definition":"La distrofia corneale di Schnyder (SCD) è una forma rara di distrofia corneale stromale (si veda questo termine), caratterizzata da opacamento o da cristalli all'interno dello stroma corneale, e dalla progressiva diminuzione dell'acuità visiva."},"nl":{"name":"Corneadystrofie van Schnyder","synonyms":["Erfelijke kristallijne stromale dystrofie van Schnyder","Kristallijne corneadystrofie van Schnyder","Kristallijne dystrofie van Schnyder zonder kristallen","Kristallijne stromale dystrofie","SCCD","SCD"],"definition":"Corneadystrofie van Schnyder (SCD) is een zeldzame vorm van stromale corneadystrofie (zie deze term) gekenmerkt door corneatroebeling of kristallen in het corneastroma en een progressieve afname van de gezichtsscherpte."},"pt":{"name":"Distrofia corneana cristalina, tipo Schnyder"},"pl":{"name":"Dystrofia rogówki Schnydera","synonyms":["Dziedziczna krystaliczna dystrofia rogówki Schnydera","Krystaliczna dystrofia istoty właściwej","Krystaliczna dystrofia rogówki Schnydera","Krystaliczna dystrofia rogówki Schnydera bez kryształów","SCCD","SCD"]},"cs":{"name":"Schnyderova dystrofie rohovky","synonyms":["Krystalická stromální dystrofie","Hereditární krystalická stromální Schnyderova dystrofie","SCCD","SCD","Schnyderova krystalická dystrofie rohovky","Schnyderova centrální krystalická dystrofie","Schnyderova krystalická dystrofie bez krystalů"]},"uk":{"name":"Дистрофія рогівки Шнайдера","synonyms":["Кристалічна стромальна дистрофія","Спадкова кристалічна стромальна дистрофія Шнайдера","SCCD","SCD","Кристалічна дистрофія рогівки Шнайдера","Синусоїдальні кристали кристалічної дистрофії Шнайдера"],"definition":"Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity."},"zh":{"name":"施耐德角膜营养不良","synonyms":["Schnyder 遗传性晶体状角膜基质营养不良"],"definition":"Schnyder角膜营养不良(SCD)是一种罕见的间质性角膜营养不良(见该词条)，其特征是角膜基质内有角膜云雾或晶体，半进行性视力下降。"},"tr":{"name":"Schnyder korneal distrofisi","synonyms":["SCD","SCCD","Kristalin stromal distrofi","Schnyder kristalin korneal distrofi","Schnyder kristalin distrofi sinüs kristalleri","Schnyder'in kalıtsal kristal stromal distrofisi"]}},"xrefs":[{"source":"OMIM","code":"121800","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":"437801959"},{"source":"MONDO","code":"0007374","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271287","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":98968,"name":"Central discoid corneal dystrophy","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98626,"name":"Stromal corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"UBIAD1","name":"UbiA prenyltransferase domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23169578[PMID]_22065921[PMID]","hgnc":"30791","ensembl":"ENSG00000120942","omim":"611632","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":115.0,"area":"Worldwide","status":"Validated","source":"19398911[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}