{"orpha":98989,"name":"Cerulean cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Blue-dot cataract"],"definition":"A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98989/","orphanet_url":"https://www.orpha.net/en/disease/detail/98989","names":{"fr":{"name":"Cataracte céruléenne","synonyms":["Cataracte de Vogt"],"definition":"Type de cataracte congénitale héréditaire, caractérisée par des opacités bleuâtres et blanchâtres dans les couches superficielles du noyau du cristallin foetal et adulte, et par une diminution de l'acuité visuelle pendant l'enfance, nécessitant à terme l'extraction du cristallin."},"de":{"name":"Katarakt, zölinblaue","synonyms":["Cataracta coerulea"],"definition":"Die Cataracta coerulea ist eine Form von erblicher kongenitaler Katarakt, die durch bläuliche und weiße Trübungen der oberflächlichen Schichten des fetalen und adulten Linsenkerns und durch verminderte Sehschärfe im Kindesalter gekennzeichnet ist. In einem Teil der Fälle ist eine Extraktion der Linse erforderlich."},"es":{"name":"Catarata cerúlea","definition":"Es un tipo de catarata congénita hereditaria que se caracteriza por opacidades azuladas y blancas en las capas superficiales del núcleo del cristalino fetal y en el núcleo del cristalino en adultos, y que se caracteriza por reducción de la agudeza visual en la infancia, que finalmente requiere la extracción del cristalino."},"it":{"name":"Cataratta cerulea","synonyms":["Cataratta con punti blu"],"definition":"La cataratta cerulea è una forma di cataratta congenita ereditaria che si caratterizza per opacità di tonalità bluastre e bianche negli strati superficiali del nucleo fetale e del nucleo adulto del cristallino e una diminuzione dell'acuità visiva durante l'infanzia, che può richiedere la rimozione del cristallino."},"nl":{"name":"Cataracta caerulea","synonyms":["Blauwe cataract"],"definition":"Een type van erfelijk, congenitaal cataract, dat onderscheiden wordt aan de hand van blauwachtige en witte vertroebelingen in de oppervlakkige lagen van de foetale lenskern en volwassen lenskern, dat gekarakteriseerd wordt door verminderde gezichtsscherpte in de kindertijd, en dat uiteindelijk extractie van de lens vereist."},"pt":{"name":"Catarata cerúlea"},"pl":{"name":"Zaćma błękitna","synonyms":["Zaćma \"niebieskich kropek"]},"cs":{"name":"Blankytná katarakta","synonyms":["Blue-dot cataract"]},"uk":{"name":"Райдужна катаракта","synonyms":["Катаракта з блакитною крапкою"],"definition":"A type of hereditary congenital cataract, distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus, and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens."},"zh":{"name":"蔚蓝白内障","synonyms":["蓝点状白内障"],"definition":"该病是一种遗传性先天性白内障，以胎儿晶状体核和成人晶状体核表层的蓝白混浊为特征，其特征是在儿童期出现视力下降，病情发展最终需要摘除晶状体。"},"tr":{"name":"Cerulean katarakt","synonyms":["Mavi-noktalı katarakt"]}},"xrefs":[{"source":"OMIM","code":"115660","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614422","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA12.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1188848969"},{"source":"MONDO","code":"0020374","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537955","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344523","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9508","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090531","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98992,"name":"Early-onset partial cataract","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"CRYBB2","name":"crystallin beta B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9158139[PMID]_19321936[PMID]","hgnc":"2398","ensembl":"ENSG00000244752","omim":"123620","loci":["22q11.23"]},{"symbol":"CRYGD","name":"crystallin gamma D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12676897[PMID]","hgnc":"2411","ensembl":"ENSG00000118231","omim":"123690","loci":["2q33.3"]},{"symbol":"MAF","name":"MAF bZIP transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16470690[PMID]","hgnc":"6776","ensembl":"ENSG00000178573","omim":"177075","loci":["16q23.2"]},{"symbol":"MIP","name":"major intrinsic protein of lens fiber","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21850180[PMID]","hgnc":"7103","ensembl":"ENSG00000135517","omim":"154050","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}