{"orpha":289499,"name":"Congenital cataract microcornea with corneal opacity","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CCMCO"],"definition":"A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289499/","orphanet_url":"https://www.orpha.net/en/disease/detail/289499","names":{"fr":{"name":"Syndrome de cataracte congenitale-microcornée-opacité cornéenne","synonyms":["CCMCO"],"definition":"Maladie génétique rare de l'oeil caractérisée par une cataracte congénitale, une microcornée et une opacité cornéenne, entraînant une déficience visuelle sévère, voire la cécité. En fonction du contexte génétique, d'autres défauts de développement oculaire peuvent également être présents."},"de":{"name":"Kongenitale Katarakt mit Mikrokornea und Hornhauttrübung","synonyms":["CCMCO"],"definition":"Eine seltene genetisch bedingte Augenkrankheit, die durch angeborenen Katarakt, Mikrokornea und Hornhauttrübung gekennzeichnet ist und zu schwerer Sehbehinderung oder Blindheit führt. Je nach genetischem Hintergrund können auch andere Entwicklungsdefekte des Auges vorhanden sein."},"es":{"name":"Catarata congénita con microcórnea y opacidad corneal","synonyms":["CCMCO"],"definition":"Es una enfermedad ocular poco frecuente de origen genético, caracterizada por cataratas congénitas, microcórnea y opacidad corneal, que resulta en una discapacidad visual grave o ceguera. Dependiendo del fondo genético, también pueden estar presentes otros defectos oculares del desarrollo."},"it":{"name":"Cataratta congenita con microcornea e opacità corneale","synonyms":["CCMCO"]},"nl":{"name":"Congenitaal cataract met microcornea en cornea-opaciteit","synonyms":["CCMCO"],"definition":"Een zeldzame genetische aandoening van oog, gekenmerkt door congenitaal cataract, microcornea, en hoornvliestroebeling, met ernstig verlies van gezichtsvermogen of blindheid tot gevolg. Afhankelijk van de genetische achtergrond kunnen andere ontwikkelingsdefecten van oog aanwezig zijn."},"pt":{"name":"Catarata congénita com microcornea e opacidade da córnea","synonyms":["CCMCO"],"definition":"Doença ocular genética rara caracterizada por catarata congénita, microcórnea e opacidade da córnea, resultando em deficiência visual grave ou cegueira. Dependendo da causa genética, outros defeitos do desenvolvimento ocular também podem estar presentes."},"pl":{"name":"Wrodzona zaćma małej rogówki ze zmętnieniem rogówki","synonyms":["CCMCO"]},"cs":{"name":"Vrozená mikrokornea a katarakta s korneální opacitou","synonyms":["CCMCO"]},"uk":{"name":"Вроджена катаракта мікрокорнеа з помутнінням рогівки","synonyms":["CCMCO"],"definition":"A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present."},"zh":{"name":"先天性白内障小角膜伴角膜混浊","synonyms":["先天性白内障小角膜伴角膜混浊"]},"tr":{"name":"Kornea opasitesi ile seyreden doğumsal katarakt mikrokornea","synonyms":["CCMCO"]}},"xrefs":[{"source":"OMIM","code":"269400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010015","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779991","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":"PXDN","name":"peroxidasin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21907015[PMID]_24939590[PMID]","hgnc":"14966","ensembl":"ENSG00000130508","omim":"605158","loci":["2p25.3"]},{"symbol":"ATOH7","name":"atonal bHLH transcription factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22068589[PMID]","hgnc":"13907","ensembl":"ENSG00000179774","omim":"609875","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}