{"orpha":1000,"name":"Ocular albinism with late-onset sensorineural deafness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ocular albinism with late-onset sensorineural hearing loss"],"definition":"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1000/","orphanet_url":"https://www.orpha.net/en/disease/detail/1000","names":{"fr":{"name":"Albinisme oculaire avec surdité sensorielle tardive","definition":"Un sous-type héréditaire rare d'albinisme oculaire, lié au chromosome X. Il se caractérise par une atteinte visuelle sévère, des iris bleu pâle translucides, une hypopigmentation rétinienne et une surdité modérément sévère, apparaissant entre l'adolescence et la quatrième ou la cinquième décennie."},"de":{"name":"Okulärer Albinismus mit spät einsetzender sensorineuraler Schwerhörigkeit","definition":"Der Okuläre Albinismus mit spät einsetzender sensorineuraler Schwerhörigkeit ist ein seltener, X-chromosomal vererbter Typ des okulären Albinismus, der durch eine schwere Sehbehinderung, eine durchscheinende blassblaue Iris, eine Reduktion des Netzhautpigments und eine mittelschwere Schwerhörigkeit gekennzeichnet ist. Das Manifestationsalter liegt zwischen dem Jugendalter bis zum vierten oder fünften Lebensjahrzehnt."},"es":{"name":"Albinismo ocular con sordera neurosensorial tardía","synonyms":["Albinismo ocular con hipoacusia neurosensorial tardía"],"definition":"El albinismo ocular con sordera neurosensorial tardía es un subtipo de albinismo ocular hereditario ligado al cromosoma X, poco frecuente, caracterizado por deficiencia visual grave, iris translúcidos azul pálido, reducción del pigmento retiniano y sordera moderadamente grave con un inicio que va desde la adolescencia hasta la cuarto o quinta década de la vida."},"it":{"name":"Albinismo oculare - sordità neurosensoriale ad esordio tardivo","definition":"L'albinismo oculare associato a sordità neurosensoriale ad esordio tardivo è un sottotipo ereditario raro di albinismo oculare legato all'X. È caratterizzato da grave compromissione della vista, iridi trasparenti, di colore azzurro chiaro, riduzione del pigmento retinico e sordità moderatamente grave, ad esordio tra l'adolescenza e la quarta o quinta decade di vita."},"nl":{"name":"Oculair albinisme met laat optredende sensorineurale doofheid","definition":"Oculair albinisme met laat optredende sensorineurale doofheid is een zeldzaam, X-gebonden erfelijk subtype van oculair albinisme dat gekarakteriseerd wordt door ernstige visuele beperking, doorschijnende lichtblauwe irissen, een verminderde hoeveelheid retinaal pigment en matig ernstige doofheid met een aanvang gaande van de adolescentie tot het vierde of vijfde levensdecennium."},"pt":{"name":"Albinismo ocular com surdez neurossensorial de início tardio"},"pl":{"name":"Albinizm oczny z późnym niedosłuchem czuciowo-nerwowym","synonyms":["Ocular albinism with late-onset sensorineural hearing loss"]},"cs":{"name":"Okulární albinismus s pozdně nastupující senzorineurální hluchotou","synonyms":["Ocular albinism with late-onset sensorineural hearing loss"]},"uk":{"name":"Очний альбінізм з пізньою сенсоневральною глухотою","synonyms":["Очний альбінізм з пізньою сенсоневральною приглухуватістю"],"definition":"Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life."},"zh":{"name":"眼白化病伴发迟发性感觉神经性聋","synonyms":["眼白化病伴迟发性感音神经性听力丧失"]},"tr":{"name":"Geç başlangıçlı sensorinöral sağırlığı olan oküler albinizm","synonyms":["Geç başlangıçlı sensörinöral işitme kaybı ile seyreden oküler albinizm"]}},"xrefs":[{"source":"OMIM","code":"300650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"746470881"},{"source":"MONDO","code":"0010390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":284804,"name":"Ocular albinism","classifications":[150,156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"AP3D1","name":"adaptor related protein complex 3 subunit delta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"568","ensembl":"ENSG00000065000","omim":"607246","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"6542750[PMID]_10330347[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10330347[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}