{"orpha":352731,"name":"Oculocutaneous albinism type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA1"],"definition":"A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352731/","orphanet_url":"https://www.orpha.net/en/disease/detail/352731","names":{"fr":{"name":"Albinisme oculocutané type 1","synonyms":["AOC1","OCA1"],"definition":"Forme d'albinisme oculocutané (AOC) caractérisée par un spectre d'hypopigmentation de la peau, des cheveux et des yeux, allant d'une pigmentation faible ou nulle à une pigmentation localisée. Nystagmus, photophobie et diminution de l'acuité visuelle sont souvent présents. Les sous-types comprennent l'OCA1A, l'OCA1B, l'albinisme oculo-cutané type&#8239;1 avec pigmentation minime (OCA1-MP) et l'albinisme oculo-cutané type&#8239;1 thermosensible (OCA1-TS)."},"de":{"name":"Albinismus, okulokutaner, Typ 1","definition":"Eine Subtyp des okulokutanen Albinismus (OCA), der durch ein Spektrum von Hypopigmentierung der Haut, der Haare und der Augen gekennzeichnet ist, das von geringer oder fehlender Pigmentierung bis zu lokalisierter Pigmentierung reicht. Nystagmus, Photophobie und verminderte Sehschärfe sind häufig. Zu den Subtypen gehören OCA1A, OCA1B, minimal pigmentierter okulokutaner Albinismus (OCA1-MP) Typ 1 und temperaturempfindlicher okulokutaner Albinismus Typ 1 (OCA1-TS)."},"es":{"name":"Albinismo oculocutáneo tipo 1","synonyms":["OCA1"],"definition":"Es una forma de albinismo oculocutáneo (OCA) caracterizado por un espectro de hipopigmentación cutánea, capilar y ocular, que varía desde pigmentación reducida o ausente hasta pigmentación localizada. Con frecuencia se asocia a nistagmo, fotofobia y disminución de la agudeza visual. Los subtipos incluyen OCA1A, OCA1B, albinismo oculocutáneo con pigmentación mínima tipo 1 (OCA1-MP) y albinismo oculocutáneo sensible a la temperatura tipo 1 (OCA1-TS)."},"it":{"name":"Albinismo oculocutaneo, tipo 1","synonyms":["OCA1"],"definition":"Si tratta di una forma di albinismo oculocutaneo (OCA) caratterizzata da uno spettro di ipopigmentazione dei peli e degli occhi, che comprende la pigmentazione scarsa o assente, fino alla pigmentazione localizzata. Sono comuni il nistagmo, la fotofobia e la riduzione dell'acuità visiva. Si distinguono diversi sottotipi della malattia: OCA1A, OCA1B, albinismo oculocutaneo a pigmentazione minima tipo 1 (OCA1-MP) e albinismo oculocutaneo termo-sensibile tipo 1 (OCA1-TS)."},"nl":{"name":"Oculocutaan albinisme type 1","synonyms":["OCA1"],"definition":"Een vorm van oculocutaan albinisme (OCA), gekarakteriseerd door een spectrum van hypopigmentatie van huid, haar en oog, gaande van weinig of geen pigmentatie tot gelokaliseerde pigmentatie. Nystagmus, fotofobie en verminderde gezichtsscherpte zijn vaak aanwezig. Subtypes zijn OCA1A, OCA1B, oculocutaan albinisme type 1 met minimale pigmentatie (OCA1-MP), en temperatuurgevoelig oculocutaan albinisme type 1 (OCA1-TS)."},"pt":{"name":"Albinismo oculocutâneo tipo 1","synonyms":["OCA1"]},"pl":{"name":"Albinizm oczno-skórny typu 1","synonyms":["OCA1"]},"cs":{"name":"Okulokutánní albinismus, typ 1","synonyms":["OCA1"]},"uk":{"name":"Окулокутанний альбінізм, тип 1","synonyms":["OCA1"],"definition":"A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigementation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)."},"zh":{"name":"眼皮肤白化病1型","synonyms":["OCA1"],"definition":"一组与酪氨酸相关的眼皮肤白化病，包括OCA1型、OCA1B型、1型微色素眼皮肤白化病(OCA1-MP)和1型温度敏感型眼皮肤白化病(OCA1-TS)。"},"tr":{"name":"Okülokütanöz albinizm tip 1","synonyms":["OCA1"]}},"xrefs":[{"source":"OMIM","code":"203100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606952","qualifier":"BTNT","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":"0018135","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537728","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268494","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4037","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":[{"orpha":352734,"name":"Minimal pigment oculocutaneous albinism type 1","type":"Clinical subtype"},{"orpha":79431,"name":"Oculocutaneous albinism type 1A","type":"Clinical subtype"},{"orpha":79434,"name":"Oculocutaneous albinism type 1B","type":"Clinical subtype"},{"orpha":352737,"name":"Temperature-sensitive oculocutaneous albinism type 1","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":79431,"name":"Oculocutaneous albinism type 1A"}},{"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"],"via":{"orpha":79434,"name":"Oculocutaneous albinism type 1B"}},{"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"],"via":{"orpha":352734,"name":"Minimal pigment oculocutaneous albinism type 1"}},{"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"],"via":{"orpha":352737,"name":"Temperature-sensitive oculocutaneous albinism type 1"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-19","source":"20301345[PMID]_30996339[PMID]_24721949[PMID]","terms":[{"hpo":"HP:0025568","label":"Abnormal morphology of the choroidal vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000635","label":"Blue irides","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007680","label":"Depigmented fundus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011358","label":"Generalized hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012805","label":"Iris transillumination defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025551","label":"Optic nerve misrouting","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},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002226","label":"White eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002227","label":"White eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025127","label":"Actinic keratosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null}]}}