{"orpha":441452,"name":"Early-onset lamellar cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-441452/","orphanet_url":"https://www.orpha.net/en/disease/detail/441452","names":{"fr":{"name":"Cataracte lamellaire précoce"},"de":{"name":"Katarakt, lamelläre, früh-beginnende"},"es":{"name":"Catarata lamelar de inicio precoz"},"it":{"name":"Cataratta lamellare a esordio precoce"},"nl":{"name":"Lamellair cataract met vroege aanvang"},"pt":{"name":"Catarata lamelar de início precoce"},"pl":{"name":"Zaćma wrodzona o wczesnym początku"},"cs":{"name":"Lamelární katarakta s časným nástupem"},"uk":{"name":"Рання пластинчаста катаракта"},"zh":{"name":"早发性片状性白内障"},"tr":{"name":"Erken başlangıçlı lamelli katarakt"}},"xrefs":[{"source":"OMIM","code":"116100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600881","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613763","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681191","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98995,"name":"Early-onset zonular cataract","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"BFSP2","name":"beaded filament structural protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10729115[PMID]_18958306[PMID]","hgnc":"1041","ensembl":"ENSG00000170819","omim":"603212","loci":["3q22.1"]},{"symbol":"CRYAA","name":"crystallin alpha A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23255486[PMID]","hgnc":"2388","ensembl":"ENSG00000160202","omim":"123580","loci":["21q22.3"]},{"symbol":"CRYAB","name":"crystallin alpha B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16505043[PMID]","hgnc":"2389","ensembl":"ENSG00000109846","omim":"123590","loci":["11q23.1"]},{"symbol":"CRYBA1","name":"crystallin beta A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15016766[PMID]","hgnc":"2394","ensembl":"ENSG00000108255","omim":"123610","loci":["17q11.2"]},{"symbol":"CRYBA4","name":"crystallin beta A4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16960806[PMID]","hgnc":"2396","ensembl":"ENSG00000196431","omim":"123631","loci":["22q12.1"]},{"symbol":"CRYGB","name":"crystallin gamma B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23288985[PMID]","hgnc":"2409","ensembl":"ENSG00000182187","omim":"123670","loci":["2q33.3"]},{"symbol":"CRYGC","name":"crystallin gamma C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12011157[PMID]","hgnc":"2410","ensembl":"ENSG00000163254","omim":"123680","loci":["2q33.3"]},{"symbol":"CRYGD","name":"crystallin gamma D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12011157[PMID]_21866214[PMID]","hgnc":"2411","ensembl":"ENSG00000118231","omim":"123690","loci":["2q33.3"]},{"symbol":"CRYGS","name":"crystallin gamma S","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18587492[PMID]_16141006[PMID]","hgnc":"2417","ensembl":"ENSG00000213139","omim":"123730","loci":["3q27.3"]},{"symbol":"HSF4","name":"heat shock transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12089525[PMID]","hgnc":"5227","ensembl":"ENSG00000102878","omim":"602438","loci":["16q22.1"]},{"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":"23116563[PMID]","hgnc":"7103","ensembl":"ENSG00000135517","omim":"154050","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}