{"orpha":352737,"name":"Temperature-sensitive oculocutaneous albinism type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OCA1-TS","TS OCA type 1"],"definition":"An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352737/","orphanet_url":"https://www.orpha.net/en/disease/detail/352737","names":{"fr":{"name":"Albinisme oculocutané type 1 thermosensible","synonyms":["OCA1-TS"],"definition":"Forme extrêmement rare d'albinisme oculo-cutané type 1 caractérisée par une pigmentation pilaire thermosensible à l'origine de poils noirs sur les mains, les pieds, les jambes, les bras et la poitrine (zones corporelles moins chaudes) et par des poils blancs ou de couleur pâle sur le cuir chevelu, les aisselles et le pubis (zones corporelles plus chaudes). Un nystagmus et une acuité visuelle réduite sont également observés."},"de":{"name":"Albinismus, okulokutaner, Typ 1, temperaturempfindlicher","synonyms":["OCA1-TS"],"definition":"Eine extrem seltene Form des okulokutanen Albinismus Typ 1, die durch eine temperaturempfindliche Haarpigmentierung mit dunklen Haaren an Händen, Füßen, Beinen, Armen und Brust (kühlere Körperregionen) und weißen oder blassgelben Haaren auf der Kopfhaut, in den Achselhöhlen und im Schambereich (wärmere Körperregionen) gekennzeichnet ist. Nystagmus und verminderte Sehschärfe werden ebenfalls beobachtet."},"es":{"name":"Albinismo oculocutáneo tipo 1 sensible a la temperatura","synonyms":["OCA tipo 1 TS","OCA1-TS"],"definition":"Es una forma muy poco frecuente de albinismo oculocutáneo tipo 1 caracterizada por una pigmentación del cabello sensible a la temperatura, resultando en un vello oscuro en las manos, los pies, las piernas, los brazos y el pecho (áreas corporales más frías) y vello blanco o amarillo pálido en el cuero cabelludo, las axilas y el área púbica (áreas corporales más cálidas). También se ha observado nistagmo y una disminución de la agudeza visual."},"it":{"name":"Albinismo oculocutaneo termosensibile, tipo 1","synonyms":["OCA TS, tipo 1","OCA1-TS"],"definition":"Si tratta di una forma molto rara di albinismo oculocutaneo di tipo 1, caratterizzata da una pigmentazione dei capelli/peli sensibile alla temperatura, che causa la presenza di peli scuri sulle mani, sui piedi, sulle gambe, sulle braccia e sul torace (le aree più fredde del corpo) e capelli/peli bianchi o giallo chiaro sul cuoio capelluto, sulle ascelle e sul pube (le aree più calde del corpo). I pazienti presentano anche nistagmo e riduzione dell'acuità visiva."},"nl":{"name":"Temperatuurgevoelig oculocutaan abinisme type 1","synonyms":["OCA1-TS","TS OCA type 1"],"definition":"Een uiterst zeldzame vorm van oculocutaan albinisme type 1, gekarakteriseerd door temperatuurgevoelige pigmentatie van haar, wat leidt tot donker haar op handen, voeten, benen, armen en borstkas (koudere lichaamsdelen) en wit of bleek geel haar op scalp, oksels en schaamstreek (warmere lichaamsdelen). Nystagmus en verminderde gezichtsscherpte worden ook waargenomen."},"pt":{"name":"Albinismo oculocutâneo sensível à temperatura tipo 1","synonyms":["OCA1-TS","TS OCA tipo 1"]},"pl":{"name":"Albinizm oczno-skórny typu 1 wrażliwy na temperaturę","synonyms":["OCA1-TS","TS OCA type 1"]},"cs":{"name":"Okulokutánní albinismus typ 1, citlivý na teplotu","synonyms":["OCA1-TS","TS OCA typ 1"]},"uk":{"name":"Температурно-чутливий окулошкірний альбінізм, тип 1","synonyms":["OCA1-TS","TS OCA тип 1"],"definition":"An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted."},"zh":{"name":"温度敏感性眼皮肤白化病1型","synonyms":["TS OCA1型"],"definition":"一种极其罕见的眼皮肤白化病1型，其特征是产生对温度敏感的酪氨酸酶蛋白，导致腿部、手臂和胸部的黑色毛发(较凉爽的身体区域)和头皮、腋窝和耻骨区域的白色毛发(较温暖的身体区域)。"},"tr":{"name":"Sıcaklığa duyarlı okülokutanöz albinizm tip 1","synonyms":["OCA1-TS","TS OCA tip 1"]}},"xrefs":[{"source":"OMIM","code":"606952","qualifier":"NTBT","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":"specific","validated":true},{"source":"MONDO","code":"0018137","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847132","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]}],"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":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}