{"orpha":199285,"name":"Hereditary hypercarotenemia and vitamin A deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199285/","orphanet_url":"https://www.orpha.net/en/disease/detail/199285","names":{"fr":{"name":"Déficit en vitamine A et hypercarotinémie héréditaire","definition":"Maladie métabolique extrêmement rare caractérisée sur le plan clinique par une décoloration de la peau, des taux élevés de carotène et de faibles taux de vitamine&nbsp;A. Elle a été décrite chez moins de 5&nbsp;patients à ce jour."},"de":{"name":"Hyperkarotinämie, hereditäre, mit Vitamin A-Mangel","definition":"Die Hereditäre Hyperkarotinämie mit Vitamin A-Mangel, eine extrem seltene Stoffwechselkrankheit, wurde bisher bei weniger als 5 Patienten beschrieben. Sie ist gekennzeichnet durch Hautverfärbungen und durch erhöhte Karotin- und niedrige Vitamin A-Spiegel."},"es":{"name":"Hipercarotinemia hereditaria y deficiencia de vitamina A","definition":"La hipercarotinemia hereditaria y deficiencia de vitamina A es un trastorno metabólico extremadamente poco frecuente que se caracteriza clínicamente por decoloración de la piel, elevados niveles de caroteno y bajos niveles de vitamina A. Ha sido descrito en menos de 5 pacientes hasta la fecha."},"it":{"name":"Ipercarotenemia ereditaria e deficit della vitamina A","definition":"L'ipercarotenemia ereditaria e il deficit della vitamina A è un disturbo metabolico estremamente raro caratterizzato, clinicamente, da decolorazione cutanea, livelli elevati di carotene e livelli bassi di vitamina A; questa malattia è stata descritta finora in meno di 5 pazienti."},"nl":{"name":"Hereditaire hypercarotenemie en vitamine A-deficiëntie","definition":"Een uiterst zeldzame stofwisselingsstoornis, tot op heden beschreven bij minder dan 5 patiënten, en klinisch gekenmerkt door abnormale verkleuring van huid, verhoogde gehaltes van caroteen en lage gehaltes van vitamine A."},"pt":{"name":"Hipercarotenemia e deficiência de vitamina A hereditárias"},"pl":{"name":"Dziedziczna hiperkarotenemia i Niedobór witaminy A"},"cs":{"name":"Hereditární hyperkarotenemie a deficit vitaminu A"},"uk":{"name":"Спадкова гіперкаротинемія та дефіцит вітаміну А","definition":"Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date."},"zh":{"name":"遗传性高胆固醇血症和维生素A缺乏症","definition":"遗传性高胆固醇血症和维生素A缺乏症是一种极为罕见的代谢性疾病，其主要临床表现为皮肤变色、胡萝卜素水平升高和维生素A水平低，迄今为止只在不到5名患者中有过报道。"},"tr":{"name":"Kalıtsal hiperkarotenemi ve A vitamini eksikliği"}},"xrefs":[{"source":"OMIM","code":"115300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"277350","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1841967207"},{"source":"MONDO","code":"0007272","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511672","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"BCO1","name":"beta-carotene oxygenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17951468[PMID]","hgnc":"13815","ensembl":"ENSG00000135697","omim":"605748","loci":["16q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}