{"orpha":441447,"name":"Early-onset posterior subcapsular cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-441447/","orphanet_url":"https://www.orpha.net/en/disease/detail/441447","names":{"fr":{"name":"Cataracte sous capsulaire postérieure précoce"},"de":{"name":"Früh beginnende posteriore subkapsuläre Katarakt"},"es":{"name":"Catarata subcapsular posterior de inicio precoz"},"it":{"name":"Cataratta subcapsulare posteriore a esordio precoce"},"nl":{"name":"Posterieur subcapsulair cataract met vroege aanvang"},"pt":{"name":"Catarata subcapsular posterior de início precoce"},"pl":{"name":"Zaćma podtorebkowa tylna o wczesnym początku"},"cs":{"name":"Zadní subkapsulární katarakta s časným nástupem"},"uk":{"name":"Рання задня субкапсулярна катаракта"},"zh":{"name":"早发性后囊状白内障"},"tr":{"name":"Erken başlangıçlı arka subkapsüler katarakt"}},"xrefs":[{"source":"OMIM","code":"116600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018610","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681190","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":"CHMP4B","name":"charged multivesicular body protein 4B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"17701905[PMID]","hgnc":"16171","ensembl":"ENSG00000101421","omim":"610897","loci":["20q11.22"]},{"symbol":"CRYBB2","name":"crystallin beta B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21245961[PMID]","hgnc":"2398","ensembl":"ENSG00000244752","omim":"123620","loci":["22q11.23"]},{"symbol":"EPHA2","name":"EPH receptor A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24014202[PMID]","hgnc":"3386","ensembl":"ENSG00000142627","omim":"176946","loci":["1p36.13"]},{"symbol":"LEMD2","name":"LEM domain nuclear envelope protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26788539[PMID]","hgnc":"21244","ensembl":"ENSG00000161904","omim":"616312","loci":["6p21.31"]},{"symbol":"UNC45B","name":"unc-45 myosin chaperone B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24549050[PMID]","hgnc":"14304","ensembl":"ENSG00000141161","omim":"611220","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}