{"orpha":2253,"name":"Foveal hypoplasia-presenile cataract syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["O'Donnell-Pappas syndrome"],"definition":"A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2253/","orphanet_url":"https://www.orpha.net/en/disease/detail/2253","names":{"fr":{"name":"Syndrome d'hypoplasie fovéale-cataracte présénile","synonyms":["Syndrome d'O'Donnell-Pappas"],"definition":"Maladie oculaire génétique rare caractérisée par un nystagmus congénital (horizontal, vertical et/ou de torsion), une hypoplasie fovéale, une cataracte présénile (apparaissant typiquement entre la deuxième et la troisième décennie de vie) et des iris normaux. Un pannus cornéen et/ou une hypoplasie du nerf optique peuvent également être présents."},"de":{"name":"Foveahypoplasie - präsenile Katarakt","synonyms":["O-Donnell-Pappas-Syndrom"]},"es":{"name":"Síndrome de hipoplasia foveal-catarata presenil","synonyms":["Síndrome de O'Donnell-Pappas"],"definition":"El síndrome de hipoplasia foveal - catarata presenil es una enfermedad ocular, genética y poco frecuente, caracterizada por nistagmo congénito (horizontal, vertical y/o de torsión), hipoplasia foveal, cataratas preseniles (con aparición, por lo general, entre la segunda y la tercera década de la vida) con iris normales. También se puede asociar a pannus corneal y/o hipoplasia del nervio óptico."},"it":{"name":"Ipoplasia della fovea - cataratta presenile","synonyms":["Sindrome di O'Donnell-Pappas"],"definition":"La sindrome che associa l'ipoplasia della fovea alla cataratta presenile è una malattia oculare genetica rara, caratterizzata da nistagmo congenito (orizzontale, verticale e/o torsionale), ipoplasia della fovea e cataratta presenile (prevalentemente ad esordio nella seconda o terza decade di vita). Le iridi sono normali. Può associarsi a panno corneale e/o ipoplasia del nervo ottico."},"nl":{"name":"Foveale hypoplasie - preseniel cataract-syndroom","synonyms":["Syndroom van O'Donnell-Pappas"],"definition":"Foveale hypoplasie - preseniel cataract-syndroom is een zeldzame, genetische oogziekte die gekarakteriseerd wordt door congenitale nystagmus (horizontale, verticale en/of torsionele), foveale hypoplasie, preseniele cataracten (met typische aanvang in het tweede tot derde levensdecennium), en normale irissen. Pannus van het hoornvlies en/of hypoplasie van de oogzenuw kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome de hipoplasia da fóvea-catarata pré-senil","synonyms":["Síndrome O'Donnell-Pappas"]},"pl":{"name":"Hipoplazja dołka - zaćma przedstarcza","synonyms":["Zespół O'Donnella i Pappasa"]},"cs":{"name":"Foveální hypoplázie asociovanáa s presenilní kataraktou","synonyms":["O´Donnellův-Pappasův syndrom","O´Donnell-Pappasův syndrom"]},"uk":{"name":"Синдром гіпоплазії макули - пресенільної катаракти","synonyms":["Синдром ОДоннела-Паппаса"],"definition":"A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present."},"zh":{"name":"中央凹发育不全-早老性白内障综合征","synonyms":["O'Donnell-Pappas综合征"]},"tr":{"name":"Foveal hipoplazi-presenil katarakt sendromu","synonyms":["O'Donnell-Pappas sendromu"]}},"xrefs":[{"source":"OMIM","code":"136520","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1027678248"},{"source":"MONDO","code":"0016395","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931644","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"406","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9931324[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}