{"orpha":370097,"name":"Oculocutaneous albinism type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA6"],"definition":"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370097/","orphanet_url":"https://www.orpha.net/en/disease/detail/370097","names":{"fr":{"name":"Albinisme oculocutané type 6","synonyms":["ACO6","OCA6"],"definition":"Forme d'albinisme oculocutané caractérisée par des cheveux de couleur claire à la naissance ayant tendance à foncer avec l'âge, une peau blanche, des iris transparents, une photophobie, un nystagmus, une hypoplasie fovéale et une acuité visuelle réduite."},"de":{"name":"Albinismus, okulokutaner, Typ 6","synonyms":["OCA6"],"definition":"Eine Subtyp des okulokutanen Albinismus, der durch helles Haar bei der Geburt, das mit dem Alter dunkler wird, weiße Haut, transparente Iris, Photophobie, Nystagmus, Foveahypoplasie und verminderte Sehschärfe gekennzeichnet ist."},"es":{"name":"Albinismo oculocutáneo tipo 6","synonyms":["OCA6"],"definition":"Es una forma de albinismo oculocutáneo caracterizado por cabello claro al nacimiento que se oscurece con la edad, piel clara, iris transparentes, fotofobia, nistagmo, hipoplasia foveal y disminución de la agudeza visual."},"it":{"name":"Albinismo oculocutaneo, tipo 6","synonyms":["OCA6"],"definition":"Si tratta di una forma di albinismo oculocutaneo caratterizzata da capelli/peli chiari alla nascita che si scuriscono con l'età, cute bianca, iridi trasparenti, fotofobia, nistagmo, ipoplasia della fovea e riduzione dell'acuità visiva."},"nl":{"name":"Oculocutaan albinisme type 6","synonyms":["OCA6"],"definition":"Een vorm van oculocutaan albinisme, gekarakteriseerd door lichtgekleurd haar bij de geboorte dat donkerder wordt met de leeftijd, witte huid, transparante iris, fotofobie, nystagmus, foveale hypoplasie, en verminderde gezichtsscherpte."},"pt":{"name":"Albinismo oculocutâneo tipo 6","synonyms":["OCA6"]},"pl":{"name":"Albinizm oczno-skórny typu 6","synonyms":["OCA6"]},"cs":{"name":"Okulokutánní albinismus, typ 6","synonyms":["OCA6"]},"uk":{"name":"Окулокутанний альбінізм, тип 6","synonyms":["OCA6"],"definition":"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity."},"zh":{"name":"眼皮肤白化病6型","synonyms":["OCA6"],"definition":"眼皮肤白化病6型(OCA6)是最近在一个中国人中发现的一种眼皮肤白化病，其特征是出生时发色浅，且随年龄增长而变深，患者皮肤白皙，虹膜透明，畏光，眼球震颤，中心凹发育不良和视力下降。本病是由SLC24A5基因(15q21.1)突变所致。"},"tr":{"name":"Okülokütanöz albinizm tip 6","synonyms":["OCA6"]}},"xrefs":[{"source":"OMIM","code":"113750","qualifier":"NTBT","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":"0018264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3805375","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":"SLC24A5","name":"solute carrier family 24 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23364476[PMID]","hgnc":"20611","ensembl":"ENSG00000188467","omim":"609802","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"23364476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-27","source":"23364476[PMID]","terms":[{"hpo":"HP:0030613","label":"Abnormal foveal morphology on macular OCT","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001098","label":"Abnormal fundus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008034","label":"Abnormal iris pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008059","label":"Aplasia/Hypoplasia of the macula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null}]}}