{"orpha":83461,"name":"Congenital primary aphakia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83461/","orphanet_url":"https://www.orpha.net/en/disease/detail/83461","names":{"fr":{"name":"Aphakie primaire congénitale","definition":"Anomalie rare du développement embryonnaire caractérisée par l'absence de cristallin. La CPAK (pour Congenital primary aphakia), peut être associée à différentes malformations oculaires secondaires."},"de":{"name":"Aphakie, kongenitale primäre","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch das Fehlen der Linse gekennzeichnet ist. Die kongenitale primäre Aphakie (CPAK) kann mit verschiedenen sekundären okulären Defekten einhergehen."},"es":{"name":"Afaquia primaria congénita","definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por la ausencia del cristalino. La CPAK (por sus siglas en inglés) puede estar asociada a defectos oculares secundarios variables."},"it":{"name":"Afachia congenita primitiva","definition":"L'afachia congenita primitiva (CPAK) è un difetto raro dello sviluppo dell'embrione, caratterizzato dall'agenesia del cristallino. Può associarsi ad altre anomalie oculari secondarie."},"nl":{"name":"Congenitale primaire afakie","definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door afwezigheid van lens. CPAK kan geassocieerd zijn met variabele secundaire oculaire defecten."},"pt":{"name":"Afaquia primária congénita"},"pl":{"name":"Wrodzona pierwotna afakia"},"cs":{"name":"Vrozená primární afakie"},"uk":{"name":"Вроджена первинна афакія","definition":"A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects."},"zh":{"name":"先天性原发性无晶状体"},"tr":{"name":"Doğumsal primer afaki"}},"xrefs":[{"source":"OMIM","code":"610256","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA12.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"885383581"},{"source":"MONDO","code":"0012456","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853230","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9952","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":183607,"name":"Genetic lens and zonula anomaly","classifications":[156]},{"orpha":98639,"name":"Rare lens disease","classifications":[189]}],"children":[],"genes":[{"symbol":"FOXE3","name":"forkhead box E3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16826526[PMID]","hgnc":"3808","ensembl":"ENSG00000186790","omim":"601094","loci":["1p33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-14","source":"35051625[PMID]","terms":[{"hpo":"HP:0008062","label":"Aplasia/Hypoplasia affecting the anterior segment of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007707","label":"Congenital aphakia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011483","label":"Anterior synechiae of the anterior chamber","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007973","label":"Retinal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000667","label":"Phthisis bulbi","frequency":"Occasional (29-5%)","criteria":null}]}}