{"orpha":98943,"name":"Coloboma of eye lens","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98943/","orphanet_url":"https://www.orpha.net/en/disease/detail/98943","names":{"fr":{"name":"Colobome du cristallin","definition":"Anomalie rare du développement de l'oeil, d'origine génétique, caractérisée par une anomalie unilatérale ou bilatérale de la forme du cristallin (contraction du cristallin avec fente) due à un défaut ou à l'absence de développement, au niveau d'un segment, de la zonule et à l'aplatissement de l'équateur du cristallin dans la région du défaut affectant la zonule. L'anomalie se manifeste généralement par une baisse de l'acuité visuelle. D'autres anomalies oculaires, telles que les colobomes papillaires, de l'iris ou de la choroïde, ainsi qu'une cataracte et un décollement de la rétine, peuvent être associés."},"de":{"name":"Linsenkolobom","definition":"Ein seltener, genetisch bedingter Entwicklungsfehler des Auges, der durch eine ein- oder beidseitige abnorme Linsenform (Verengung der Linse mit einer Kerbe) aufgrund einer segmental fehlerhaften oder fehlenden Entwicklung der Zonula und einer Abflachung des Äquators im Bereich des Zonuladefekts gekennzeichnet ist und sich typischerweise durch eine verminderte Sehschärfe äußert. Andere Augenanomalien wie Iris-, Aderhaut- oder Sehnervenkolobome sowie Katarakte und Netzhautablösungen können ebenfalls auftreten."},"es":{"name":"Coloboma de cristalino","definition":"Es un defecto del desarrollo ocular de origen genético y poco frecuente caracterizado por un cristalino de forma anómala (cristalino contraído con una muesca), pudiendo ser uni- o bilateral, por un defecto del segmentario o ausencia del desarrollo zonular y por aplanamiento del ecuador de la región del defecto zonular que se manifiesta típicamente con reducción de la agudeza visual. También puede asociar otras anomalías oculares adicionales, tales como coloboma de iris, coroides o del disco óptico, cataratas y desprendimiento de retina."},"it":{"name":"Coloboma del cristallino","definition":"È difetto genetico raro dello sviluppo dell'occhio, caratterizzato da anomalie morfologiche mono- o bilaterali del cristallino (contrazione del cristallino con una schisi), secondarie ad uno sviluppo segmentale anomalo o assente della zonula, e all'appiattimento dell'equatore nella regione interessata dal difetto zonulare, che esita nella riduzione dell'acuità visiva. Può associarsi ad altre anomalie oculari, come i colobomi dell'iride, della coroide o del disco ottico, la cataratta e il distacco della retina."},"nl":{"name":"Coloboom van ooglens","definition":"Een zeldzaam, genetisch ontwikkelingsdefect van het oog dat gekarakteriseerd wordt door uni- of bilateraal voorkomen van een lens met een abnormale vorm (contractie van de lens met een inkeping) als gevolg van segmentaal gebrekkige of afwezige ontwikkeling van de zonulavezels en afvlakking van de equator (bolling van het oog) ter hoogte van het zonuladefect, en dat zich doorgaans manifesteert met verminderde visus. Andere oculaire anomalieën, zoals colobomen van iris, vaatvlies of optische papil, alsook cataracten en netvliesloslating, kunnen geassocieerd zijn."},"pt":{"name":"Coloboma do cristalino"},"pl":{"name":"Szczelina soczewki oka"},"cs":{"name":"Kolobom čočky"},"uk":{"name":"Колобома кришталика ока","definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral abnormal lens shape (contraction of the lens with a notch) due to segmentally defective, or absent, development of the zonule and flattening of the equator in the region of the zonular defect, typically manifesting with reduced visual acuity. Other ocular anomalies, such as iris, choroid or optic disc colobomas, as well as cataracts and retinal detachment, may be associated."},"zh":{"name":"晶状体缺损","definition":"该病是一种罕见的遗传性眼部发育缺陷，其特征是单侧或双侧晶状体形状异常(晶状体收缩有凹槽)，原因是睫状小带发育有节段性缺陷或缺失，在睫状小带缺陷区内中纬线变平，典型表现为视力下降。其他眼部异常（如虹膜、脉络膜或视盘缺损，以及白内障和视网膜脱离）也可能与之相关。"},"tr":{"name":"Göz lensi kolobomu"}},"xrefs":[{"source":"OMIM","code":"620731","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA12.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1368271881"},{"source":"MONDO","code":"0020355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344516","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1433","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":"FZD5","name":"frizzled class receptor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26908622[PMID]","hgnc":"4043","ensembl":"ENSG00000163251","omim":"601723","loci":["2q33.3"]},{"symbol":"SALL2","name":"spalt like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24412933[PMID]","hgnc":"10526","ensembl":"ENSG00000165821","omim":"602219","loci":["14q11.2"]},{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22226084[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12721955[PMID]_16604056[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}