{"orpha":352734,"name":"Minimal pigment oculocutaneous albinism type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OCA1-MP","MP OCA type 1"],"definition":"An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352734/","orphanet_url":"https://www.orpha.net/en/disease/detail/352734","names":{"fr":{"name":"Albinisme oculocutané type 1 avec pigmentation minime","synonyms":["OCA1-MP"],"definition":"Forme extrêmement rare d'albinisme oculo-cutané type 1 avec pigmentation minime caractérisée par des cheveux blonds (blancs à la naissance), une transillumination irienne variable (iris bleus à la naissance et développement minimal des pigments au cours de la première décennie de vie), une acuité visuelle comprise entre 20/80 et 20/200 et une peau blanche, avec ou sans nævus cutané."},"de":{"name":"Albinismus, okulokutaner , Typ 1, minimal-pigmentierter","synonyms":["OCA Typ MP","OCA1-MP"],"definition":"Eine extrem seltener Typ des okulokutanen Albinismus Typ 1 mit minimaler Pigmentierung, gekennzeichnet durch blondes Haar (weiß bei der Geburt), variable Iris-Transillumination (blaue Iriden bei der Geburt, gefolgt von minimaler Pigmentierung im ersten Lebensjahrzehnt), Sehschärfe von 20/80-20/200 und weiße Haut, mit oder ohne Hautnävi."},"es":{"name":"Albinismo oculocutáneo tipo 1 con pigmentación mínima","synonyms":["OCA tipo 1 MP","OCA1-MP"],"definition":"Es una forma muy poco frecuente de albinismo oculocutáneo tipo 1 con pigmentación mínima caracterizado por cabello rubio (blanco al nacimiento), transiluminación variable del iris (iris azul al nacer seguido de un desarrollo mínimo de pigmento durante la primera década de vida), agudeza visual que varía entre 20/80-20/200 y piel clara, con o sin presencia de nevos cutáneos."},"it":{"name":"Albinismo oculocutaneo con pigmentazione minima tipo 1","definition":"Si tratta di una forma molto rara di albinismo oculocutaneo tipo 1 con pigmentazione minima, caratterizzata da capelli biondi (bianchi alla nascita), transilluminazione variabile dell'iride (iridi blu alla nascita con un successivo sviluppo minimo della pigmentazione nella prima decade di vita), acuità visiva compresa tra 20/80 e 20/200 e cute bianca, con o senza nevi cutanei."},"nl":{"name":"Oculocutaan albinisme type 1 met minimale pigmentatie","synonyms":["MP OCA type 1","OCA1-MP"],"definition":"Een uiterst zeldzame vorm van oculocutaan albinisme type 1 waarbij minimaal pigment aanwezig is, gekarakteriseerd door blond haar (wit bij de geboorte), variabele transilluminatie van iris (blauw regenboogvlies bij de geboorte gevolgd door minimale ontwikkeling van pigment tijdens het eerste levensdecennium), gezichtsscherpte gaande van 20/80-20/200, en witte huid met of zonder naevi."},"pt":{"name":"Albinismo oculocutâneo com pigmentação mínima tipo 1","synonyms":["MP OCA tipo 1","OCA1-MP"]},"pl":{"name":"Albinizm oczno-skórny typu 1 z minimalną ilością barwnika","synonyms":["MP OCA type 1","OCA1-MP"]},"cs":{"name":"Okulokutánní albinismus typ 1 s minimálním množstvím pigmentu","synonyms":["MP OCA typ 1","OCA1-MP"]},"uk":{"name":"Мінімальний пігментний окулошкірний альбінізм, тип 1","synonyms":["MP OCA тип 1","OCA1-MP"],"definition":"An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi."},"zh":{"name":"轻度色素性眼皮肤白化病1型","synonyms":["MP OCA1型"],"definition":"一种极其罕见的眼皮肤白化病型伴有极少量色素，其特征为金发，可变虹膜透光，视力可从20/80-20/200，皮肤白皙，伴有/无皮肤痣。"},"tr":{"name":"Minimal pigment okülokütanöz albinizm tip 1","synonyms":["OCA1-MP","MP OCA tip 1"]}},"xrefs":[{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.20","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0018136","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679923","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":352731,"name":"Oculocutaneous albinism type 1","classifications":[150,156,187,189]}],"children":[],"genes":[{"symbol":"TYR","name":"tyrosinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301345[PMID]","hgnc":"12442","ensembl":"ENSG00000077498","omim":"606933","loci":["11q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}