{"orpha":98993,"name":"Early-onset posterior polar cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-98993/","orphanet_url":"https://www.orpha.net/en/disease/detail/98993","names":{"fr":{"name":"Cataracte polaire postérieure précoce"},"de":{"name":"Katarakt, posteriore polare, früh-beginnende","synonyms":["Katarakt, posteriore subkapsuläre"]},"es":{"name":"Catarata polar posterior de inicio precoz"},"it":{"name":"Cataratta polare posteriore a esordio precoce"},"nl":{"name":"Posterieur polair cataract met vroege aanvang","synonyms":["Posterieur subcapsulair cataract"]},"pt":{"name":"Catarata polar posterior de início precoce"},"pl":{"name":"Zaćma biegunowa tylna o wczesnym początku"},"cs":{"name":"Zadní polární katarakta s časným nástupem"},"uk":{"name":"Рання задня полярна катаракта"},"zh":{"name":"早发性后极性白内障"},"tr":{"name":"Erken başlangıçlı posterior polar katarakt"}},"xrefs":[{"source":"OMIM","code":"600881","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613763","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619593","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":"679652376"},{"source":"MONDO","code":"0020378","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0858617","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) in","status":"Assessed","source":"17701905[PMID]","hgnc":"16171","ensembl":"ENSG00000101421","omim":"610897","loci":["20q11.22"]},{"symbol":"CRYAB","name":"crystallin alpha B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16877416[PMID]_25195561[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":"20142846[PMID]","hgnc":"2394","ensembl":"ENSG00000108255","omim":"123610","loci":["17q11.2"]},{"symbol":"EPHA2","name":"EPH receptor A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19306328[PMID]_23447127[PMID]","hgnc":"3386","ensembl":"ENSG00000142627","omim":"176946","loci":["1p36.13"]},{"symbol":"GJA3","name":"gap junction protein alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21031021[PMID]","hgnc":"4277","ensembl":"ENSG00000121743","omim":"121015","loci":["13q12.11"]},{"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":"25803033[PMID]","hgnc":"7103","ensembl":"ENSG00000135517","omim":"154050","loci":["12q13.3"]},{"symbol":"PANK4","name":"pantothenate kinase 4 (inactive)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30585370[PMID]","hgnc":"19366","ensembl":"ENSG00000157881","omim":"606162","loci":["1p36.32"]},{"symbol":"PITX3","name":"paired like homeodomain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16636655[PMID]_21633712[PMID]","hgnc":"9006","ensembl":"ENSG00000107859","omim":"602669","loci":["10q24.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}