{"orpha":79434,"name":"Oculocutaneous albinism type 1B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OCA1B","Oculocutaneous albinism, Amish type","Platinum oculocutaneous albinism","Yellow oculocutaneous albinism"],"definition":"A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79434/","orphanet_url":"https://www.orpha.net/en/disease/detail/79434","names":{"fr":{"name":"Albinisme oculocutané type 1B","synonyms":["AOC1B","Albinisme oculocutané jaune","Albinisme oculocutané type Amish","OCA1B"],"definition":"Forme d'albinisme oculo-cutané de type 1 (AOC1) caractérisée par une hypopigmentation cutanée et des cheveux, un nystagmus, une pigmentation irienne et rétinienne réduite et une décussation des fibres du nerf optique."},"de":{"name":"Albinismus, okulokutaner, Typ 1B","synonyms":["OCA1B","Okulokutaner Albinismus vom Amisch Typ","Okulokutaner Albinismus, gelber","Platin-OCA"],"definition":"Eine Form des okulokutanen Albinismus Typ 1 (OCA1), die durch eine Hypopigmentierung von Haut und Haaren, Nystagmus, eine verminderte Pigmentierung von Iris und Netzhaut sowie eine Fehlleitung der Sehnerven gekennzeichnet ist."},"es":{"name":"Albinismo oculocutáneo tipo 1B","synonyms":["Albinismo oculocutáneo amarillo","Albinismo oculocutáneo platino","Albinismo oculocutáneo tipo Amisch","OCA1B"],"definition":"Es una forma de albinismo oculocutáneo de tipo 1 (OCA1) caracterizada por hipopigmentación de la piel y del cabello, nistagmo, reducción de la pigmentación del iris y de la retina y desviación del nervio óptico."},"it":{"name":"Albinismo oculocutaneo, tipo 1B","synonyms":["Albinismo oculocutaneo giallo","Albinismo oculocutaneo platino","Albinismo oculocutaneo, tipo Amish","OCA1B"],"definition":"L'albinismo oculocutaneo tipo 1B (OCA1B) è una forma di albinismo oculocutaneo tipo 1 (OCA1) caratterizzata da ipopigmentazione della cute e dei capelli, nistagmo, riduzione della pigmentazione dell'iride e della retina, e decorso anomalo dei nervi ottici."},"nl":{"name":"Oculocutaan albinisme type 1B","synonyms":["Geel oculocutaan albinisme","OCA1B","Oculocutaan albinisme, Amish type","Platina oculocutaan albinisme"],"definition":"Een vorm van oculocutaan albinisme type 1 (OCA1), gekarakteriseerd door hypopigmentatie van huid en haar, nystagmus, een gereduceerde hoeveelheid pigment in iris en retina, en een verkeerd verloop van de oogzenuwen."},"pt":{"name":"Albinismo oculocutâneo tipo 1B","synonyms":["Albinismo oculocutâneo amarelo","Albinismo oculocutâneo platina","Albinismo oculocutâneo, tipo Amish","OCA1B"]},"pl":{"name":"Albinizm oczno-skórny typu 1B","synonyms":["Albinizm oczno-skórny typu Amiszów","OCA1B","platynowy albinizm oczno-skórny","Żółty albinizm oczno-skórny"]},"cs":{"name":"Okulokutánní albinismus, typ 1B","synonyms":["OCA1B","Platinový okulokutánní albinismus","Žlutý okulokutánní albinismus","Okulokutánní albinismus, Amishův typ"]},"uk":{"name":"Окулокутанний альбінізм, тип 1B","synonyms":["OCA1B","Окулошкірний альбінізм, тип Амішів","Платиновий окулокутанний альбінізм","Жовтий окулошкірний альбінізм"],"definition":"A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves."},"zh":{"name":"眼皮肤白化病症1B型","synonyms":["眼皮肤白化病，Amish型"]},"tr":{"name":"Okülokutanöz albinizm tip 1B","synonyms":["OCA1B","Sarı okülokutanöz albinizm","Platin okülokutanöz albinizm","Okülokütanöz albinizm, Amish tipi"]}},"xrefs":[{"source":"OMIM","code":"606952","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":"index","validated":true,"icd11_uri":"1233842528"},{"source":"MONDO","code":"0011749","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847024","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"594","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]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"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":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Worldwide","status":"Validated","source":"18463683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001022","label":"Albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Occasional (29-5%)","criteria":null}]}}