{"orpha":370091,"name":"Oculocutaneous albinism type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCA5"],"definition":"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370091/","orphanet_url":"https://www.orpha.net/en/disease/detail/370091","names":{"fr":{"name":"Albinisme oculocutané type 5","synonyms":["ACO5","OCA5"],"definition":"Forme d'albinisme oculocutané caractérisée par une peau blanche, des cheveux de couleur dorée, une photophobie, un nystagmus, une hypoplasie fovéale et une acuité visuelle réduite. La maladie touche autant les hommes que les femmes, et n'a été rapportée que chez des membres d'une même famille pakistanaise consanguine. Le gène causal n'a pas encore été identifié."},"de":{"name":"Albinismus, okulokutaner, Typ 5","synonyms":["OCA5"],"definition":"Eine Subtyp des okulokutanen Albinismus, der durch weiße Haut, goldfarbenes Haar, Photophobie, Nystagmus, foveale Hypoplasie und verminderte Sehschärfe gekennzeichnet ist und sowohl das männliche als auch das weibliche Geschlecht betrifft."},"es":{"name":"Albinismo oculocutáneo tipo 5","synonyms":["OCA5"],"definition":"Es una forma de albinismo oculocutáneo caracterizado por piel clara, cabello dorado, fotofobia, nistagmo, hipoplasia foveal y alteración de la agudeza visual, que afecta a ambos sexos por igual. Sólo se ha descrito en una familia paquistaní consanguínea. Aún no se ha identificado el gen responsable."},"it":{"name":"Albinismo oculocutaneo, tipo 5","synonyms":["OCA5"],"definition":"Si tratta di una forma di albinismo oculocutaneo caratterizzata da cute bianca, capelli dorati, fotofobia, nistagmo, ipoplasia della fovea e compromissione dell'acuità visiva. I maschi e le femmine sono colpiti in uguale misura. I pazienti noti appartengono ad un'unica famiglia pakistana consanguinea. Il gene-malattia non è noto."},"nl":{"name":"Oculocutaan albinisme type 5","synonyms":["OCA5"],"definition":"Een vorm van oculocutaan albinisme, gekarakteriseerd door witte huid, goudkleurig haar, fotofobie, nystagmus, foveale hypoplasie, en verstoorde gezichtsscherpte, die evenveel voorkomt bij mannen als bij vrouwen. Er werden enkel patiënten uit een bloedverwante Pakistaanse familie gerapporteerd. Het verantwoordelijke gen werd nog niet gedetecteerd."},"pt":{"name":"Albinismo oculo-cutâneo tipo 5","synonyms":["OCA5"]},"pl":{"name":"Albinizm oczno-skórny typu 5","synonyms":["OCA5"]},"cs":{"name":"Okulokutánní albinismus, typ 5","synonyms":["OCA5"]},"uk":{"name":"Окулокутанний альбінізм, тип 5","synonyms":["OCA5"],"definition":"A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected."},"zh":{"name":"眼皮肤白化病5型","synonyms":["OCA5"],"definition":"眼皮肤白化病5型(OCA5)是一种在一个巴基斯坦家庭中发现的眼皮肤白化病，其特征为皮肤白皙、头发金黄、畏光、眼球震颤、视网膜中央凹发育不全和视力受损。本病对男性和女性的影响相同，并且已经被定位到染色体4q24上的一个位点，但其致病基因尚未被发现。"},"tr":{"name":"Okülokütanöz albinizm tip 5","synonyms":["OCA5"]}},"xrefs":[{"source":"OMIM","code":"615312","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":"attributed","validated":true},{"source":"MONDO","code":"0014127","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888401","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"23050561[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-21","source":"23050561[PMID]","terms":[{"hpo":"HP:0001098","label":"Abnormal fundus morphology","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007750","label":"Hypoplasia of the fovea","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Obligate (100%)","criteria":null}]}}