{"orpha":54,"name":"X-linked recessive ocular albinism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OA1","Ocular albinism type 1","Ocular albinism, Nettleship-Falls type","XLOA"],"definition":"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54/","orphanet_url":"https://www.orpha.net/en/disease/detail/54","names":{"fr":{"name":"Albinisme oculaire récessif lié à l'X","synonyms":["AO1","Albinisme oculaire type 1","Albinisme oculaire type Nettleship-Falls"],"definition":"L'albinisme oculaire récessif lié à l'X (AO1) est une maladie rare caractérisée par une hypopigmentation oculaire, une hypoplasie fovéale, un nystagmus, une photodysphorie, et une acuité visuelle réduite chez les hommes."},"de":{"name":"Albinismus, okulärer rezessiver X-chromosomaler","synonyms":["Albinismus, okulärer, Nettleship-Falls-Typ","Albinismus, okulärer, Typ 1","OA-1","XLOA"],"definition":"Der X-chromosomal-rezessive okuläre Albinismus (XLOA) ist eine seltene Störung mit okulärer Hypopigmentierung, Fovea-Hypoplasie, Nystagmus, extremer Photophobie (Photodysphorie) und reduzierter Sehschärfe bei männlichen Patienten."},"es":{"name":"Albinismo ocular recesivo ligado al cromosoma X","synonyms":["Albinismo ocular tipo 1","Albinismo ocular tipo Nettleship-Falls","OA1","XLOA"],"definition":"El albinismo ocular recesivo ligado al X (XLOA) es un trastorno poco frecuente caracterizado por hipopigmentación ocular, hipoplasia foveal, nistagmo, fotodisforia, y agudeza visual reducida en varones."},"it":{"name":"Albinismo oculare recessivo legato all'X","synonyms":["Albinismo oculare, tipo 1","Albinismo oculare, tipo Nettleship-Falls","OA1","XLOA"],"definition":"L'albinismo oculare recessivo legato all'X (XLOA) è una malattia rara con ipopigmentazione oculare, ipoplasia della fovea, nistagmo, fotodisforia e ridotta acuità visiva nei maschi."},"nl":{"name":"X-gebonden recessief oculair albinisme","synonyms":["OA1","Oculair albinisme type 1","Oculair albinisme, Nettleship-Falls-type","XLOA"],"definition":"X-gebonden recessief oculair albinisme (XLOA) is een zeldzame aandoening die wordt gekarakteriseerd door oculaire hypopigmentatie, foveale hypoplasie, nystagmus, fotodysforie en verminderde gezichtsscherpte bij mannen."},"pt":{"name":"Albinismo ocular ligado ao X recessivo","synonyms":["AO-1"]},"pl":{"name":"Albinizm oczny o dziedziczeniu recesywnym sprzężony z chromosomem X","synonyms":["Albinizm oczny typu 1","Albinizm oczny typu Nettleshipa i Fallsa","OA1","XLOA"]},"cs":{"name":"X-vázaný okulární albinismus","synonyms":["OA1","Okulární albinismus, typ 1","XLOA","Okulární albinismus, Nettleshipův-Fallsův typ","Okulární albinismus, Nettleship-Fallsův typ"]},"uk":{"name":"Х-зчеплений рецесивний очний альбінізм","synonyms":["OA1","Очний альбінізм типу 1","Очний альбінізм, тип Неттлешипа-Фоллса","XLOA"],"definition":"X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males."},"zh":{"name":"X连锁隐性眼白化病","synonyms":["眼白化病，Nettleship-Falls型"]},"tr":{"name":"X'e bağlı resesif oküler albinizm","synonyms":["OA1","XLOA","Oküler albinizm tip 1","Oküler albinizm, Nettleship-Falls tipi"]}},"xrefs":[{"source":"OMIM","code":"300500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9E1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"846740259"},{"source":"MONDO","code":"0021019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342684","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8471","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":284804,"name":"Ocular albinism","classifications":[150,156,189]}],"children":[],"genes":[{"symbol":"AP3D1","name":"adaptor related protein complex 3 subunit delta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"568","ensembl":"ENSG00000065000","omim":"607246","loci":["19p13.3"]},{"symbol":"GPR143","name":"G protein-coupled receptor 143","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20145","ensembl":"ENSG00000101850","omim":"300808","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.58,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.84,"area":"Denmark","status":"Validated","source":"9887374[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Denmark","status":"Validated","source":"9887374[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"20301517[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Not yet validated","source":"20301517[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001103","label":"Abnormal macular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005592","label":"Giant melanosomes in melanocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}