{"orpha":55,"name":"Oculocutaneous albinism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["OCA"],"definition":"A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-55/","orphanet_url":"https://www.orpha.net/en/disease/detail/55","names":{"fr":{"name":"Albinisme oculocutané","synonyms":["AOC"],"definition":"Groupe rare d'hypopigmentations cutanées d'origine génétique caractérisé par une diminution généralisée de la pigmentation des cheveux, de la peau et des yeux, et par des signes oculaires variables, tels qu'un nystagmus, une diminution de l'acuité visuelle et une photophobie. Les variantes incluent l'AOC1A (la forme la plus sévère), l'AOC1B, l'AOC1 avec pigmentation minime (AOC1-MP), l'AOC1 thermosensible (AOC1-TS), l'AOC2, l'AOC3, l'AOC4, l'AOC5, l'AOC6, l'AOC7 et l'AOC8."},"de":{"name":"Albinismus, okulokutaner","synonyms":["OCA"],"definition":"Eine Gruppe seltener genetisch bedingter Hypopigmentierungsstörungen, die durch eine allgemeine Verringerung der Pigmentierung von Haaren, Haut und Augen sowie durch unterschiedliche Augenbefunde wie Nystagmus, verminderte Sehschärfe und Photophobie gekennzeichnet sind. Zu den Varianten gehören OCA1A (die schwerste Form), OCA1B, OCA1-Minimalpigment (OCA1-MP), OCA1-Temperaturempfindlichkeit (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 und OCA7."},"es":{"name":"Albinismo oculo-cutáneo","definition":"Es un grupo de trastornos de hipopigmentación de origen genético y poco frecuentes caracterizados por una disminución generalizada de la pigmentación del cabello, la piel y los ojos, así como hallazgos oculares variables, incluyendo nistagmo, disminución de la agudeza visual y fotofobia. Las variantes incluyen OCA1A (la forma más grave), OCA1B, OCA1 con pigmentación mínima (OCA1-MP), OCA1 sensible a la temperatura (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 y OCA8."},"it":{"name":"Albinismo oculocutaneo","synonyms":["OCA"],"definition":"Si tratta di un gruppo di malattie genetiche rare da ipopigmentazione, caratterizzate da una riduzione generalizzata della pigmentazione dei capelli/peli, della cute e degli occhi, e da sintomi oculari variabili (nistagmo, riduzione dell'acuità visiva e fotofobia). Le varianti comprendono OCA1A (la forma più grave), OCA1B, OCA1-pigmentazione minima (OCA1-MP), OCA1-termo-sensibile (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 e OCA8."},"nl":{"name":"Oculocutaan albinisme","synonyms":["OCA"],"definition":"Een groep van zeldzame, genetische aandoeningen met hypopigmentatie, gekarakteriseerd door gegeneraliseerde vermindering van pigmentatie van haar, huid en oog, alsook variabele oculaire bevindingen waaronder nystagmus, verminderde gezichtsscherpte en fotofobie. Varianten zijn onder meer OCA1A (meest ernstige vorm), OCA1B, OCA1 met minimale pigmentatie (OCA1-MP), OCA1-temperatuurgevoelig (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 en OCA8."},"pt":{"name":"Albinismo oculocutâneo","synonyms":["AOC"]},"pl":{"name":"Albinizm oczno-skórny","synonyms":["OCA"],"definition":"Grupa rzadkich, genetycznie uwarunkowanych zaburzeń pigmentacji, charakteryzujących się uogólnioną hipopigmentacją włosów, skóry i oczu oraz zmiennymi objawami ocznymi, w tym oczopląsem, zmniejszoną ostrością wzroku i światłowstrętem. Mutacje sprawcze zlokalizowane się w genach OCA1A (najcięższa postać), OCA1B, zespół OCA1-zależny z minimalną pigmentacją (OCA1-MP), zespół wrażliwy na temperaturę OCA1-zależny (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 i OCA8."},"cs":{"name":"Okulokutánní albinismus","synonyms":["OCA"]},"uk":{"name":"Окулошкірний альбінізм","synonyms":["OCA"],"definition":"A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8."},"zh":{"name":"眼皮肤白化病","synonyms":["OCA"]},"tr":{"name":"Okülokutanöz albinizm","synonyms":["OCA"]}},"xrefs":[{"source":"ICD-11","code":"EC23.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1189424097"},{"source":"MONDO","code":"0018910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0078918","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10958","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":352728,"name":"Disorder of melanin metabolism","classifications":[150,156]},{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":98706,"name":"Oculocutaneous or ocular albinism","classifications":[156,189]}],"children":[{"orpha":352731,"name":"Oculocutaneous albinism type 1","type":"Disease"},{"orpha":79432,"name":"Oculocutaneous albinism type 2","type":"Disease"},{"orpha":79433,"name":"Oculocutaneous albinism type 3","type":"Disease"},{"orpha":79435,"name":"Oculocutaneous albinism type 4","type":"Disease"},{"orpha":370091,"name":"Oculocutaneous albinism type 5","type":"Disease"},{"orpha":370097,"name":"Oculocutaneous albinism type 6","type":"Disease"},{"orpha":352745,"name":"Oculocutaneous albinism type 7","type":"Disease"},{"orpha":597733,"name":"Oculocutaneous albinism type 8","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.9,"area":"Worldwide","status":"Validated","source":"17980020[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"Denmark","status":"Validated","source":"19060277[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.0,"area":"South Africa","status":"Validated","source":"17620156[PMID]"}],"phenotypes":null}