{"orpha":88629,"name":"Tritanopia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Blue colour blindness","Congenital tritanopia","Tritan colour blindness"],"definition":"A rare form of colour blindness characterized by a selective deficiency of blue vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88629/","orphanet_url":"https://www.orpha.net/en/disease/detail/88629","names":{"fr":{"name":"Tritanopie","synonyms":["Dyschromatopsie du bleu","Tritanopie congénitale"],"definition":"La tritanopie est une forme extrêmement rare de daltonisme se traduisant par l'absence de vision du bleu."},"de":{"name":"Tritanopie","synonyms":["Blaublindheit","Farbenblindheit, Tritan-Typ","Tritanopie, kongenitale"],"definition":"Die Tritanopie ist eine extrem seltene Form der Farbenblindheit mit selektiv verminderter oder fehlender Wahrnehmung von Blau. Eines von 13-15.000 Neugeborenen ist betroffen. Die Tritanopie wird autosomal-dominant vererbt. Ursache sind Mutationen im <i>BCP</i>-Gen (blue cone pigment, 7q31.33-q32), das für das blau-empfindliche Photopigment kodiert. Die Wahrnehmung von Rot und Grün ist nicht eingeschränkt."},"es":{"name":"Tritanopía","synonyms":["Ceguera al color azul","Tritanopía congénita"],"definition":"Es una forma extremadamente infrecuente de daltonismo caracterizada por una deficiencia selectiva de la visión del color azul."},"it":{"name":"Tritanopia","synonyms":["Cecità ai colori - tritan","Cecità al blu","Tritanopia congenita"]},"nl":{"name":"Tritanopie","synonyms":["Blauw-kleurenblindheid","Congenitale tritanopie","Tritan-kleurenblindheid"],"definition":"Een zeldzame vorm van kleurenblindheid, gekenmerkt door selectieve deficiëntie van blauw zicht."},"pt":{"name":"Tritanopia"},"pl":{"name":"Tritanopia","synonyms":["Ślepota barwy niebieskiej","Wrodzona tritanopia"]},"cs":{"name":"Tritanopie","synonyms":["Nevnímání modré barvy","Vrozená tritanopie"]},"uk":{"name":"Тританопія","synonyms":["Синя дальтонізм","Вроджена тританопія","Тритановий дальтонізм"],"definition":"A rare form of colour blindness characterized by a selective deficiency of blue vision."},"zh":{"name":"蓝色盲","synonyms":["第三色盲"]},"tr":{"name":"Tritanopia","synonyms":["Mavi renk körlüğü","Doğumsal tritanopi","Tritan renk körlüğü"]}},"xrefs":[{"source":"OMIM","code":"190900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9D44","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"878634036"},{"source":"MONDO","code":"0008610","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0155017","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98658,"name":"Color-vision disease","classifications":[156,189]}],"children":[],"genes":[{"symbol":"OPN1SW","name":"opsin 1, short wave sensitive","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1531728[PMID]_1386496[PMID]","hgnc":"1012","ensembl":"ENSG00000128617","omim":"613522","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-13","source":"19927164[PMID]_20301591[PMID]_17429491[PMID]_16961973[PMID]","terms":[{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030584","label":"Color vision test abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000552","label":"Tritanomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012043","label":"Pendular nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null}]}}