{"orpha":79431,"name":"Oculocutaneous albinism type 1A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OCA1A","Tyrosinase-negative oculocutaneous albinism"],"definition":"A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79431/","orphanet_url":"https://www.orpha.net/en/disease/detail/79431","names":{"fr":{"name":"Albinisme oculocutané type 1A","synonyms":["AOC1A","Albinisme oculocutané tyrosinase-négatif","OCA1A"],"definition":"Forme sévère d'albinisme oculo-cutané type 1 (OCA1) caractérisée par l'absence totale de mélanine et se manifestant par une peau et des cheveux blancs, des iris bleus complètement translucides, un nystagmus et une décussation des fibres du nerf optique."},"de":{"name":"Albinismus, okulokutaner, Typ 1A","synonyms":["Albinismus, okulokutaner, Tyrosinase-negativer","OCA1A"],"definition":"Eine schwere Form des okulokutanen Albinismus Typ 1 (OCA1), die durch das völlige Fehlen von Melanin gekennzeichnet ist. Charakteristisch sind weißes Haar und weiße Haut, blaue, vollständig durchscheinende Iris, Nystagmus und falscher Verlauf der Sehnerven."},"es":{"name":"Albinismo oculocutáneo tipo 1A","synonyms":["Albinismo oculocutáneo tirosina-negativo","OCA1A"],"definition":"Es una forma grave de albinismo oculocutáneo tipo 1 (OCA1) caracterizado por la ausencia total de melanina y por la presencia de pelo y piel blancos, iris azul completamente translúcido, nistagmo y desviación de los nervios ópticos."},"it":{"name":"Albinismo oculocutaneo, tipo 1A","synonyms":["Albinismo oculocutaneo tirosinasi-negativo","OCA1A"],"definition":"L'albinismo oculocutaneo tipo 1A (OCA1A) è la forma più grave di albinismo oculocutaneo (OCA) caratterizzata dall'assenza completa della melanina; il quadro clinico comprende i capelli e la cute bianchi, le iridi blu e completamente translucide, il nistagmo e le anomalie dei nervi ottici."},"nl":{"name":"Oculocutaan albinisme type 1A","synonyms":["OCA-1A","OCA1A","Tyrosinase-negatief oculocutaan albinisme"],"definition":"Een ernstige vorm van oculocutaan albinisme type 1 (OCA1), gekarakteriseerd door volledige afwezigheid van melanine en zich manifesterend als wit haar en witte huid, blauwe en volledig doorschijnende irissen, nystagmus en verkeerd verloop van de oogzenuwen."},"pt":{"name":"Albinismo oculocutâneo tipo 1A","synonyms":["Albinismo oculocutâneo tirosinase-negativo","OCA1A"]},"pl":{"name":"Albinizm oczno-skórny typu 1A","synonyms":["Albinizm oczno-skórny tyrozynazo-ujemny","OCA1A"]},"cs":{"name":"Okulokutánní albinismus, typ 1A","synonyms":["OCA1A","Tyrozináza-negativní okulokutánní albinismus"]},"uk":{"name":"Окулокутанний альбінізм, типу 1А","synonyms":["OCA1A","Тирозиназа-негативний окулошкірний альбінізм"],"definition":"A severe form of oculocutaneous albinism type 1 (OCA1) characterized by complete absence of melanin and manifesting as white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves."},"zh":{"name":"眼皮肤白化病1A型","synonyms":["酪氨酸酶阴性眼皮肤白化病"]},"tr":{"name":"Okülokutanöz albinizm tip 1A","synonyms":["OCA1A","Tirozinaz-negatif okülokütanöz albinizm"]}},"xrefs":[{"source":"OMIM","code":"203100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1168847652"},{"source":"MONDO","code":"0008745","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551504","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":352731,"name":"Oculocutaneous albinism type 1","classifications":[150,156,187,189]}],"children":[],"genes":[{"symbol":"TYR","name":"tyrosinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301345[PMID]","hgnc":"12442","ensembl":"ENSG00000077498","omim":"606933","loci":["11q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Worldwide","status":"Validated","source":"18463683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001022","label":"Albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"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:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null}]}}