{"orpha":352745,"name":"Oculocutaneous albinism type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA7"],"definition":"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352745/","orphanet_url":"https://www.orpha.net/en/disease/detail/352745","names":{"fr":{"name":"Albinisme oculocutané type 7","synonyms":["ACO7"],"definition":"Forme d'albinisme oculo-cutané caractérisée par une hypopigmentation de la peau et des cheveux (de blond très clair à marron foncé), un nystagmus, une transillumination irienne, une acuité visuelle comprise entre 6/9 et 3/60 et une hypopigmentation du fond d'oeil périphérique. La photophobie n'est pas un signe majeur."},"de":{"name":"Albinismus, okulokutaner, Typ 7","synonyms":["OCA7"],"definition":"Eine Subtyp des okulokutanen Albinismus (OCA), der durch Hypopigmentierung von Haut und Haaren (hellblond bis dunkelbraun), Nystagmus, Iris-Transillumination, Sehschärfe von 6/9 bis 3/60 und Hypopigmentierung des peripheren Augenhintergrunds gekennzeichnet ist. Photophobie ist kein Hauptmerkmal."},"es":{"name":"Albinismo oculocutáneo tipo 7","synonyms":["OCA7"],"definition":"Es una forma de albinismo oculocutáneo (OCA) caracterizado por hipopigmentación de la piel y del cabello (rubio claro a marrón oscuro), nistagmo, transiluminación del iris, agudeza visual variable entre 6/9 y 3/60 e hipopigmentación de la periferia del fondo de ojo. La fotofobia no constituye un hallazgo principal."},"it":{"name":"Albinismo oculocutaneo, tipo 7","synonyms":["OCA7"],"definition":"Si tratta di una forma di albinismo oculocutaneo (OCA) caratterizzata da ipopigmentazione della cute e dei capelli (da biondo chiaro a marrone scuro), nistagmo, transilluminazione dell'iride, acuità visiva compresa tra 6/9 e 3/60, e ipopigmentazione del fondo oculare periferico. La fotofobia non è un segno clinico caratteristico."},"nl":{"name":"Oculocutaan albinisme type 7","synonyms":["OCA7"],"definition":"Een vorm van oculocutaan albinisme (OCA), gekarakteriseerd door hypopigmentatie van huid en haar (lichtblond tot donkerbruin), nystagmus, transilluminatie van iris, gezichtsscherpte gaande van 6/9 tot 3/60, en hypopigmentatie van perifere oculaire fundus. Fotofobie is geen belangrijk kenmerk."},"pt":{"name":"Albinismo oculo-cutâneo tipo 7"},"pl":{"name":"Albinizm oczno-skórny typu 7","synonyms":["OCA7"]},"cs":{"name":"Okulokutánní albinismus, typ 7","synonyms":["OCA7"]},"uk":{"name":"Окулокутанний альбінізм, тип 7","synonyms":["OCA7"],"definition":"A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature."},"zh":{"name":"眼皮肤白化病7型","synonyms":["OCA7"],"definition":"眼皮肤白化病7型(OCA7)，以前被称为OCA5，是眼皮肤白化病(OCA)的一种形式，以皮肤和头发色素减退、眼震和虹膜透光为特征。"},"tr":{"name":"Okülokütanöz albinizm tip 7","synonyms":["OCA7"]}},"xrefs":[{"source":"OMIM","code":"615179","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":"0014070","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3808786","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":"LRMDA","name":"leucine rich melanocyte differentiation associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23395477[PMID]","hgnc":"23405","ensembl":"ENSG00000148655","omim":"614537","loci":["10q22.2-q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"23395477[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}