{"orpha":98985,"name":"Early-onset sutural cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Early-onset cataract with Y-shaped suture opacities"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-98985/","orphanet_url":"https://www.orpha.net/en/disease/detail/98985","names":{"fr":{"name":"Cataracte suturale précoce","synonyms":["Cataracte de la suture en Y précoce"]},"de":{"name":"Katarakt, suturale, früh-beginnende","synonyms":["Früh-beginnende Katarakt mit Y-nahtförmigen Trübungen"]},"es":{"name":"Catarata sutural de inicio precoz","synonyms":["Catarata de inicio precoz con opacidades de las suturas en forma de Y"]},"it":{"name":"Cataratta suturale a esordio precoce","synonyms":["Cataratta a esordio precoce con opacità lungo le suture a Y"]},"nl":{"name":"Suturaal cataract met vroege aanvang","synonyms":["Vroeg aanvangend cataract met Y-vormige sutuuropaciteiten"]},"pt":{"name":"Catarata das suturas de início precoce","synonyms":["Catarata das suturas com opacidades em forma de Y"]},"pl":{"name":"Zaćma szwowa o wczesnym początku","synonyms":["Zaćma o wczesnym początku ze zmętnieniami w kształcie litery Y"]},"cs":{"name":"Suturální katarakta s časným nástupem","synonyms":["Katarakta s opacifikacemi v Y-švu s časným nástupem"]},"uk":{"name":"Рання шовна катаракта","synonyms":["Рання катаракта з Y-подібними помутніннями швів"]},"zh":{"name":"早发性缝性白内障","synonyms":["Y形缝隙状混浊性早发性白内障。"]},"tr":{"name":"Erken başlangıçlı sütür katarakt","synonyms":["Y şeklindeki sütür opasiteleri ile seyreden erken başlangıçlı 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":"605728","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA12.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"937377374"},{"source":"MONDO","code":"0020372","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565301","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854021","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":"17200662[PMID]","hgnc":"1041","ensembl":"ENSG00000170819","omim":"603212","loci":["3q22.1"]},{"symbol":"CRYBA1","name":"crystallin beta A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9788845[PMID]","hgnc":"2394","ensembl":"ENSG00000108255","omim":"123610","loci":["17q11.2"]},{"symbol":"CRYBB2","name":"crystallin beta B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11424921[PMID]","hgnc":"2398","ensembl":"ENSG00000244752","omim":"123620","loci":["22q11.23"]},{"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":"GJA8","name":"gap junction protein alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18587493[PMID]","hgnc":"4281","ensembl":"ENSG00000121634","omim":"600897","loci":["1q21.2"]},{"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":"20361015[PMID]_24405844[PMID]","hgnc":"7103","ensembl":"ENSG00000135517","omim":"154050","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}