{"orpha":98984,"name":"Pulverulent cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Coppock-like cataract","Dusty cataract"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-98984/","orphanet_url":"https://www.orpha.net/en/disease/detail/98984","names":{"fr":{"name":"Cataracte pulvérulente","synonyms":["Cataracte Coppock-like","Cataracte poussiéreuse"]},"de":{"name":"Katarakt, pulverförmige","synonyms":["Coppock-ähnliche Katarakt"]},"es":{"name":"Catarata pulverulenta","synonyms":["Catarata polvorienta","Catarata tipo Coppock"]},"it":{"name":"Cataratta pulverulenta","synonyms":["Cataratta Coppock-simile","Cataratta polverosa"]},"nl":{"name":"Pulverachtig cataract","synonyms":["Cataract, Coppock-achtig","Stoffig cataract"]},"pt":{"name":"Catarata pulverulenta"},"pl":{"name":"Zaćma proszkowa","synonyms":["Zaćma podobna do zaćmy Coppocka"]},"cs":{"name":"Pulverulentní katarakta","synonyms":["Coppockovská katarakta","Prachová katarakta"]},"uk":{"name":"Гнійна катаракта","synonyms":["Коппокоподібна катаракта","Пилова катаракта"]},"zh":{"name":"粉尘状白内障","synonyms":["Coppock样白内障"]},"tr":{"name":"Pulverulent katarakt","synonyms":["Tozlu katarakt","Coppock-benzeri katarakt"]}},"xrefs":[{"source":"OMIM","code":"116300","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":"1046743385"},{"source":"MONDO","code":"0011430","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563426","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98986,"name":"OBSOLETE: Coppock-like cataract","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98992,"name":"Early-onset partial cataract","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"GJA8","name":"gap junction protein alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18006672[PMID]","hgnc":"4281","ensembl":"ENSG00000121634","omim":"600897","loci":["1q21.2"]},{"symbol":"BFSP2","name":"beaded filament structural protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24654948[PMID]","hgnc":"1041","ensembl":"ENSG00000170819","omim":"603212","loci":["3q22.1"]},{"symbol":"CRYBB1","name":"crystallin beta B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22267527[PMID]_19461930[PMID]_12360425[PMID]","hgnc":"2397","ensembl":"ENSG00000100122","omim":"600929","loci":["22q12.1"]},{"symbol":"CRYBB2","name":"crystallin beta B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10634616[PMID]","hgnc":"2398","ensembl":"ENSG00000244752","omim":"123620","loci":["22q11.23"]},{"symbol":"CRYGC","name":"crystallin gamma C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10914683[PMID]_23954869[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":"21866214[PMID]","hgnc":"2411","ensembl":"ENSG00000118231","omim":"123690","loci":["2q33.3"]},{"symbol":"GJA3","name":"gap junction protein alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22876138[PMID]","hgnc":"4277","ensembl":"ENSG00000121743","omim":"121015","loci":["13q12.11"]},{"symbol":"MAF","name":"MAF bZIP transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11772997[PMID]_12642301[PMID]","hgnc":"6776","ensembl":"ENSG00000178573","omim":"177075","loci":["16q23.2"]},{"symbol":"VIM","name":"vimentin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19126778[PMID]","hgnc":"12692","ensembl":"ENSG00000026025","omim":"193060","loci":["10p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}