{"orpha":79435,"name":"Oculocutaneous albinism type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA4"],"definition":"A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79435/","orphanet_url":"https://www.orpha.net/en/disease/detail/79435","names":{"fr":{"name":"Albinisme oculocutané type 4","synonyms":["AOC4"],"definition":"Forme d'albinisme oculo-cutané caractérisée par des degrés variables d'hypopigmentation de la peau et des cheveux, de nombreux changements oculaires et une décussation des fibres du nerf optique au niveau du chiasma."},"de":{"name":"Albinismus, okulokutaner, Typ 4","synonyms":["OCA4"],"definition":"Eine Form des okulokutanen Albinismus (OCA), die durch unterschiedlich starke Hypopigmentierung von Haut und Haaren, zahlreiche Augenveränderungen und eine Fehlleitung der Sehnerven am Chiasma gekennzeichnet ist."},"es":{"name":"Albinismo oculocutáneo tipo 4","synonyms":["OCA-4"],"definition":"Es una forma de albinismo oculocutáneo caracterizada por hipopigmentación de la piel y del cabello de grado variable, numerosas anomalías oculares y desviación de los nervios ópticos en el quiasma."},"it":{"name":"Albinismo oculocutaneo, tipo 4","synonyms":["OCA4"],"definition":"L'albinismo oculocutaneo tipo 4 (OCA4) è una forma di albinismo oculocutaneo (OCA) caratterizzata da ipopigmentazione della cute e dei capelli di grado variabile, numerose anomalie oculari e decorso anomalo dei nervi ottici nel chiasma."},"nl":{"name":"Oculocutaan albinisme type 4","synonyms":["OCA4"],"definition":"Een vorm van oculocutaan albinisme (OCA), gekarakteriseerd door variabele gradaties van hypopigmentatie van huid en haar, talrijke oculaire veranderingen, en een verkeerd verloop van de oogzenuwen ter hoogte van het chiasma."},"pt":{"name":"Albinismo oculocutâneo tipo 4","synonyms":["OCA4"]},"pl":{"name":"Albinizm oczno-skórny typu 4","synonyms":["OCA4"]},"cs":{"name":"Okulokutánní albinismus, typ 4","synonyms":["OCA4"]},"uk":{"name":"Окулокутанний альбінізм, тип 4","synonyms":["OCA4"],"definition":"A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm."},"zh":{"name":"眼皮肤白化病症4型","synonyms":["OCA4"]},"tr":{"name":"Okülokutanöz albinizm tip 4","synonyms":["OCA4"]}},"xrefs":[{"source":"OMIM","code":"606574","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":"1286886811"},{"source":"MONDO","code":"0011683","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564696","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847836","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]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC45A2","name":"solute carrier family 45 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16472","ensembl":"ENSG00000164175","omim":"606202","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"20301683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-15","source":"16965274[PMID]_20301683[PMID]_27734839[PMID]_14961451[PMID]","terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001022","label":"Albinism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025551","label":"Optic nerve misrouting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Very rare (<4-1%)","criteria":null}]}}