{"orpha":79432,"name":"Oculocutaneous albinism type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA2"],"definition":"A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79432/","orphanet_url":"https://www.orpha.net/en/disease/detail/79432","names":{"fr":{"name":"Albinisme oculocutané type 2","synonyms":["AOC2"],"definition":"Forme d'albinisme oculo-cutané caractérisée par une hypopigmentation variable de la peau et des cheveux, de nombreux changements oculaires caractéristiques et une décussation des fibres du nerf optique au niveau du chiasma."},"de":{"name":"Albinismus, okulokutaner, Typ 2","synonyms":["OCA2"],"definition":"Eine Form des okulokutanen Albinismus (OCA), die durch eine variable Hypopigmentierung von Haut und Haaren, zahlreiche charakteristische Augenveränderungen und eine Fehlleitung der Sehnerven am Chiasma gekennzeichnet ist."},"es":{"name":"Albinismo oculocutáneo tipo 2","synonyms":["OCA2"],"definition":"Es una forma de albinismo oculocutáneo caracterizada por hipopigmentación variable de la piel y del cabello, numerosos cambios oculares característicos y desviación del nervio óptico en el quiasma."},"it":{"name":"Albinismo oculocutaneo, tipo 2","synonyms":["OCA2"],"definition":"L'albinismo oculocutaneo tipo 2 (OCA2) è una forma di albinismo oculocutaneo caratterizzata da ipopigmentazione variabile della cute e dei capelli, numerose alterazioni oculari tipiche e un decorso anomalo dei nervi ottici nel chiasma."},"nl":{"name":"Oculocutaan albinisme type 2","synonyms":["OCA-2","OCA2"],"definition":"Een vorm van oculocutaan albinisme (OCA), gekarakteriseerd door variabele hypopigmentatie van huid en haar, talrijke typische oculaire veranderingen, en een verkeerd verloop van de oogzenuwen ter hoogte van het chiasma."},"pt":{"name":"Albinismo oculocutâneo tipo 2","synonyms":["OCA2"]},"pl":{"name":"Albinizm oczno-skórny typu 2","synonyms":["OCA2"]},"cs":{"name":"Okulokutánní albinismus, typ 2","synonyms":["OCA2"]},"uk":{"name":"Окулокутанний альбінізм, тип 2","synonyms":["OCA2"],"definition":"A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm."},"zh":{"name":"眼皮肤白化病2型","synonyms":["OCA2"]},"tr":{"name":"Okülokutanöz albinizm tip 2","synonyms":["OCA2"]}},"xrefs":[{"source":"OMIM","code":"203200","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":"2019316252"},{"source":"MONDO","code":"0008746","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537730","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268495","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4038","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":[],"genes":[{"symbol":"OCA2","name":"OCA2 melanosomal transmembrane protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8101","ensembl":"ENSG00000104044","omim":"611409","loci":["15q12-q13.1"]},{"symbol":"MC1R","name":"melanocortin 1 receptor","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"12876664[PMID]","hgnc":"6929","ensembl":"ENSG00000258839","omim":"155555","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.55,"area":"Worldwide","status":"Validated","source":"[EXPERT]_20301410[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":58.34,"area":"Specific population","status":"Validated","source":"12469324[PMID]_ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":71.43,"area":"Tanzania, United Republic of","status":"Validated","source":"3978567[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.78,"area":"United States","status":"Validated","source":"2667743[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":48.52,"area":"Africa","status":"Validated","source":"ORPHANET_7887411[PMID]_3978567[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-11","source":"29050284[PMID]_26691042[PMID]_31199599[PMID]","terms":[{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000635","label":"Blue irides","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","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:0007750","label":"Hypoplasia of the fovea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012805","label":"Iris transillumination defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007988","label":"Macular hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","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:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002226","label":"White eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200098","label":"Absent skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030856","label":"Posterior staphyloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002227","label":"White eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007481","label":"Hyperpigmented nevi","frequency":"Very rare (<4-1%)","criteria":null}]}}