{"orpha":79433,"name":"Oculocutaneous albinism type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA3","Red oculocutaneous albinism","Rufous oculocutaneous albinism","Xanthous oculocutaneous albinism"],"definition":"A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79433/","orphanet_url":"https://www.orpha.net/en/disease/detail/79433","names":{"fr":{"name":"Albinisme oculocutané type 3","synonyms":["AOC3","Albinisme oculocutané brun","Albinisme oculocutané rouge","Albinisme oculocutané roux"],"definition":"Forme d'albinisme oculo-cutané (AOC) caractérisée par un albinisme de type rufisme ou brun, le plus souvent observée au sein des populations africaines."},"de":{"name":"Albinismus, okulokutaner, Typ 3","synonyms":["OCA3","Okulokutaner Albinismus, roter","Okulokutaner Albinismus, xanthöser"],"definition":"Der okulokutane Albinismus Typ 3 (OCA3), eine Form des okulokutanen Albinismus (OCA), ist gekennzeichnet durch rotbraunen oder braunen Albinismus und tritt hauptsächlich in der afrikanischen Bevölkerung auf."},"es":{"name":"Albinismo oculocutáneo tipo 3","synonyms":["Albinismo oculocutáneo Xanthous","Albinismo oculocutáneo de Rufous","Albinismo oculocutáneo rojo","OCA3"],"definition":"Es una forma de albinismo oculocutáneo (OCA) caracterizado por una pigmentación rojiza o marrón, que afecta principalmente a la población africana."},"it":{"name":"Albinismo oculocutaneo, tipo 3","synonyms":["Albinismo oculocutaneo di Rufous","Albinismo oculocutaneo di Xanthous","Albinismo oculocutaneo rosso","OCA3"],"definition":"L'albinismo oculocutaneo tipo 3 (OCA3) è una forma di albinismo oculocutaneo (OCA) caratterizzata da albinismo bruno o marrone, che colpisce per lo più la popolazione africana."},"nl":{"name":"Oculocutaan albinisme type 3","synonyms":["OCA-3","OCA3","Rood oculocutaan albinisme","Rufous oculocutaan albinisme","Xanthous oculocutaan albinisme"],"definition":"Een vorm van oculocutaan albinisme (OCA), gekarakteriseerd door rood of bruin albinisme en vooral optredend in de Afrikaanse populatie."},"pt":{"name":"Albinismo oculocutâneo tipo 3","synonyms":["Albinismo oculocutâneo Rufous","Albinismo oculocutâneo Xanthous","Albinismo oculocutâneo vermelho","OCA3"]},"pl":{"name":"Albinizm oczno-skórny typu 3","synonyms":["Albinizm oczno-skórny Rufousa","Czerwony albinizm oczno-skórny","Ksantynowy albinizm oczno-skórny","OCA3"]},"cs":{"name":"Červený okulokutánní albinismus","synonyms":["OCA3","Okulokutánní albinismus, typ 3"]},"uk":{"name":"Окулокутанний альбінізм, тип 3","synonyms":["OCA3","Червоний окулогірний альбінізм","Руфусний окуло-шкірний альбінізм","Ксантозний окуло-шкірний альбінізм"],"definition":"A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population."},"zh":{"name":"眼皮肤白化病症3型","synonyms":["黄斑性眼皮肤白化病"]},"tr":{"name":"Okülokutanöz albinizm tip 3","synonyms":["OCA3","Kırmızı okülokütan albinizm","Kızıl okülokütan albinizm","Ksantöz okülokütanöz albinizm"]}},"xrefs":[{"source":"OMIM","code":"203290","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":"1565320806"},{"source":"MONDO","code":"0008747","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342683","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4039","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":55,"name":"Oculocutaneous albinism","classifications":[150,156,187,189]}],"children":[],"genes":[{"symbol":"TYRP1","name":"tyrosinase related protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12450","ensembl":"ENSG00000107165","omim":"115501","loci":["9p23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"30347088[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.7647,"area":"Africa","status":"Validated","source":"30347088[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-11","source":"21996312[PMID]_21739261[PMID]_9345097[PMID]_20301683[PMID]","terms":[{"hpo":"HP:0000635","label":"Blue irides","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011358","label":"Generalized hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002297","label":"Red hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200098","label":"Absent skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100814","label":"Blue nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025551","label":"Optic nerve misrouting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002226","label":"White eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002227","label":"White eyelashes","frequency":"Occasional (29-5%)","criteria":null}]}}