{"orpha":597733,"name":"Oculocutaneous albinism type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA8"],"definition":"A type of oculocutaneous albinism characterized by mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination, and hypopigmentation of the retina.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597733/","orphanet_url":"https://www.orpha.net/en/disease/detail/597733","names":{"fr":{"name":"Albinisme oculocutané type 8","synonyms":["AOC8"],"definition":"Type d'albinisme oculocutané caractérisé par une légère hypopigmentation de la peau, des cheveux et des yeux et une baisse modérée de l'acuité visuelle et un nystagmus. Le phénotype oculaire comprend une hypoplasie fovéale modérée, une transillumination de l'iris et une hypopigmentation rétinienne."},"de":{"name":"Albinismus, okulokutaner, Typ 8","synonyms":["OCA8"],"definition":"Eine Form des okulokutanen Albinismus, die durch eine leichte Hypopigmentierung der Haut, der Haare und der Augen mit mäßiger Verringerung der Sehschärfe und Nystagmus gekennzeichnet ist. Der okuläre Phänotyp umfasst eine mäßige foveale Hypoplasie, eine durchscheinende Iris und eine Hypopigmentierung der Netzhaut."},"es":{"name":"Albinismo oculocutáneo tipo 8","synonyms":["AOC8"],"definition":"Es un tipo de albinismo oculocutáneo caracterizado por una leve hipopigmentación de la piel, del cabello y los ojos con una reducción moderada de la agudeza visual y nistagmo. El fenotipo ocular incluye hipoplasia foveal moderada, transiluminación del iris e hipopigmentación de la retina."},"it":{"name":"Albinismo oculocutaneo tipo 8","synonyms":["OCA8"]},"nl":{"name":"Oculocutaan albinisme type 8","synonyms":["OCA8"],"definition":"Een type van oculocutaan albinisme, gekenmerkt door milde hypopigmentatie van huid, haar en ogen met matige afname van visus en nystagmus. Het oculaire fenotype omvat matige foveale hypoplasie, transilluminatie van iris, en hypopigmentatie van netvlies."},"pt":{"name":"Albinismo oculocutâneo tipo 8","synonyms":["OCA8"],"definition":"Tipo de albinismo oculocutâneo caracterizado por hipopigmentação leve da pele, cabelo e olhos com redução moderada da acuidade visual e nistagmo. O fenótipo ocular inclui hipoplasia foveal moderada, transiluminação da íris e hipopigmentação da retina."},"pl":{"name":"Albinizm oczno-skórny typ 8","synonyms":["Postać oczno-skórna albinizmu"],"definition":"Rodzaj albinizmu oczno-skórnego charakteryzujący się łagodną hipopigmentacją skóry, włosów i oczu, z umiarkowanym zmniejszeniem ostrości widzenia i oczopląsem. Nieprawidłowości oka obejmują umiarkowaną hipoplazję dołka, transiluminację tęczówki i hipopigmentację siatkówki."},"cs":{"name":"Okulokutánní albinismus typu 8","synonyms":["OCA8"]},"uk":{"name":"Окулошкірний альбінізм, тип 8","synonyms":["OCA8"],"definition":"A type of oculocutaneous albinism characterized by mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination, and hypopigmentation of the retina."},"zh":{"name":"Oculocutaneous albinism type 8","synonyms":["OCA8"]},"tr":{"name":"Oculocutaneous albinism type 8","synonyms":["OCA8"]}},"xrefs":[{"source":"OMIM","code":"619165","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":"attributed","validated":true},{"source":"MONDO","code":"0030899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5436929","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":"DCT","name":"dopachrome tautomerase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33100333[PMID]","hgnc":"2709","ensembl":"ENSG00000080166","omim":"191275","loci":["13q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33100333[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"33100333[PMID]"}],"phenotypes":null}