{"orpha":250923,"name":"Isolated aniridia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250923/","orphanet_url":"https://www.orpha.net/en/disease/detail/250923","names":{"fr":{"name":"Aniridie isolée","definition":"L'aniridie isolée est une malformation caractérisée par l'absence totale ou partielle de l'iris."},"de":{"name":"Aniridie, isolierte","definition":"Die isolierte Aniridie ist eine angeborene beidseitige Fehlbildung der Augen und gekennzeichnet durch vollständiges oder teilweises Fehlen der Iris."},"es":{"name":"Aniridia aislada","definition":"La aniridia aislada es una malformación ocular bilateral congénita caracterizada por la ausencia parcial o completa del iris."},"it":{"name":"Aniridia isolata","definition":"L'aniridia isolata è una malformazione oculare bilaterale congenita caratterizzata dall'assenza parziale o totale dell'iride."},"nl":{"name":"Geïsoleerde aniridie","definition":"Geïsoleerde aniridie is een congenitale bilaterale oogmisvorming, gekenmerkt door de volledige of gedeeltelijke afwezigheid van de iris."},"pt":{"name":"Aniridia isolada","definition":"A aniridia isolada é uma malformação ocular bilateral congénita, caracterizada pela ausência completa ou parcial da íris."},"pl":{"name":"Aniridia izolowana"},"cs":{"name":"Izolovaná aniridie"},"uk":{"name":"Ізольована аніридія","definition":"Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris."},"zh":{"name":"孤立性无虹膜畸形","definition":"孤立型无虹膜是一种先天性双侧眼畸形，其特征是虹膜完全或部分缺失。"},"tr":{"name":"İzole aniridi"}},"xrefs":[{"source":"OMIM","code":"106210","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617141","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617142","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"970699895"},{"source":"MONDO","code":"0007119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0003076","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98634,"name":"Anterior segment developmental anomaly without extraocular manifestations","classifications":[147,156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"TRIM44","name":"tripartite motif containing 44","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26394807[PMID]","hgnc":"19016","ensembl":"ENSG00000166326","omim":"612298","loci":["11p13"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301534[PMID]_9138149[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]},{"symbol":"FOXC1","name":"forkhead box C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19279310[PMID]_27124303[PMID]","hgnc":"3800","ensembl":"ENSG00000054598","omim":"601090","loci":["6p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.31,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.38,"area":"Norway","status":"Validated","source":"18494745[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.38,"area":"Sweden","status":"Validated","source":"18494745[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-20","source":"36375586[PMID]_33675823[PMID]_35791108[PMID]_35791108[PMID]_30100922[PMID]","terms":[{"hpo":"HP:0000526","label":"Aniridia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008059","label":"Aplasia/Hypoplasia of the macula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007676","label":"Hypoplasia of the iris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030622","label":"Abnormal foveal pit on macular OCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030466","label":"Abnormal full-field electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030468","label":"Abnormal multifocal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007894","label":"Hypopigmentation of the fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032107","label":"Limbal stem cell deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000659","label":"Peters anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000642","label":"Red-green dyschromatopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100719","label":"Lens coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030961","label":"Microspherophakia","frequency":"Very rare (<4-1%)","criteria":null}]}}