{"orpha":708,"name":"Peters anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Peters congenital glaucoma"],"definition":"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-708/","orphanet_url":"https://www.orpha.net/en/disease/detail/708","names":{"fr":{"name":"Anomalie de Peters","synonyms":["Glaucome congénital de Peters"],"definition":"Opacité cornéenne congénitale caractérisée par un leucome cornéen central qui obstrue la pupille, entraînant une perte de vision, ainsi que par l'absence du stroma cornéen postérieur et de la membrane de Descemet."},"de":{"name":"Peters-Anomalie","synonyms":["Glaukom, kongenitales, Typ Peters"]},"es":{"name":"Anomalía de Peters","definition":"La anomalía de Peters (AP) es un trastorno de opacidad corneal congénito caracterizado por un leucoma corneal central que obstruye la pupila y provoca pérdida visual, así como por la ausencia del estroma corneal posterior y la membrana de Descemet."},"it":{"name":"Anomalia di Peters","synonyms":["Glaucoma congenito di Peters"]},"nl":{"name":"Peters-anomalie","synonyms":["Congenitaal glaucoom van Peters"],"definition":"Peters anomalie (PA) is een aangeboren aandoening van hoornvliesvertroebeling, gekenmerkt door een centraal hoornvliesleukoom dat de pupil obstrueert, wat leidt tot een verlies van het gezichtsvermogen, en door het ontbreken van het posterieure stroma van het hoornvlies en het Descemetmembraan."},"pt":{"name":"Anomalia de Peters","synonyms":["Glaucoma congénito de Peters"]},"pl":{"name":"Anomalia Petersa","synonyms":["Wrodzona jaskra Petersa"]},"cs":{"name":"Petersova anomálie","synonyms":["Petersův vrozený zelený zákal"]},"uk":{"name":"Аномалія Пітерса","synonyms":["Вроджена глаукома Петерса"],"definition":"Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane."},"zh":{"name":"Peters畸形","synonyms":["Peters先天性青光眼"]},"tr":{"name":"Peters anomalisi","synonyms":["Peters doğumsal glokom"]}},"xrefs":[{"source":"OMIM","code":"604229","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612968","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9C61.42","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1902926622"},{"source":"MONDO","code":"0011414","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344559","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7377","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059202","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101033,"name":"OBSOLETE: Peters anomaly-cataract syndrome","status":"inactive"}],"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]}],"children":[],"genes":[{"symbol":"PITX2","name":"paired like homeodomain 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10051017[PMID]","hgnc":"9005","ensembl":"ENSG00000164093","omim":"601542","loci":["4q25"]},{"symbol":"CYP1B1","name":"cytochrome P450 family 1 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11403040[PMID]_15621878[PMID]_16735991[PMID]","hgnc":"2597","ensembl":"ENSG00000138061","omim":"601771","loci":["2p22.2"]},{"symbol":"FOXC1","name":"forkhead box C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9620769[PMID]_11170889[PMID]_12614756[PMID]_18498376[PMID]","hgnc":"3800","ensembl":"ENSG00000054598","omim":"601090","loci":["6p25.3"]},{"symbol":"FOXE3","name":"forkhead box E3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27218149[PMID]","hgnc":"3808","ensembl":"ENSG00000186790","omim":"601094","loci":["1p33"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8162071[PMID]_10441571[PMID]_15090434[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"21448066[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-27","source":"380351[PMID]_21448066[PMID]_474688[PMID]_14711722[PMID]_12566051[PMID]","terms":[{"hpo":"HP:0000659","label":"Peters anomaly","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011483","label":"Anterior synechiae of the anterior chamber","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011493","label":"Central opacification of the cornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000523","label":"Subcapsular cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031159","label":"Thinning of Descemet membrane","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null}]}}