{"orpha":168615,"name":"Hereditary persistence of alpha-fetoprotein","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168615/","orphanet_url":"https://www.orpha.net/en/disease/detail/168615","names":{"fr":{"name":"Persistence héréditaire de l'alpha-foetoprotéine","definition":"La persistance héréditaire de l'alpha-foetoprotéine est une maladie génétique bénigne caractérisée par la persistance de taux élevés d'alpha-foetoprotéine (AFP) tout au long de la vie, sans aucune conséquence clinique, et ne nécessitant donc pas de thérapie spécifique."},"de":{"name":"Hereditäre Persistenz des Alpha-Fetoproteins","definition":"Die Hereditäre Persistenz des Alpha-Fetoprotein ist eine benigne genetische Veränderung und gekennzeichnet durch hohe Alpha-Fetoprotein (AFP)-Spiegel während des ganzen Lebens, ohne assoziierte klinische Probleme und deshalb ohne die Notwendigkeit einer spezifischen Therapie."},"es":{"name":"Persistencia hereditaria de alfa-fetoproteína","definition":"La persistencia hereditaria de alfa-fetoproteína es una enfermedad genética benigna que se caracteriza por una persistencia de niveles altos de alfa-fetoproteína (AFP) a lo largo de la vida, sin ninguna discapacidad clínica asociada y que no necesita una terapia específica."},"it":{"name":"Persistenza ereditaria dell'alfa-fetoproteina","definition":"La persistenza ereditaria dell'alfa-fetoproteina è una malattia genetica benigna, caratterizzata dalla persistenza di livelli elevati di alfa-proteina (AFP) per tutta la vita del paziente, in assenza di una patologia clinica correlata e, quindi, senza la necessità di terapia specifica."},"nl":{"name":"Hereditaire persistentie van alfa-foetoproteïne","definition":"Een goedaardige genetische aandoening, gekenmerkt door levenslang aanhoudende hoge gehaltes van alfafoetoproteïne (AFP), zonder geassocieerde klinische beperking en dus geen nood aan specifieke therapie."},"pt":{"name":"Persistência hereditária de alfa-fetoproteína"},"pl":{"name":"Dziedziczna przetrwała alfa-fetoproteina"},"cs":{"name":"Dědičné přetrvávání alfa-fetoproteinu"},"uk":{"name":"Спадкова персистенція альфа-фетопротеїну","definition":"Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy"},"zh":{"name":"遗传性持久性甲胎蛋白","definition":"遗传性持久甲胎蛋白增高是一种良性遗传疾病，其主要临床表现为终身高水平的甲胎蛋白，没有相关的临床症状，因此不需要特殊治疗"},"tr":{"name":"Kalıtsal alfa-fetoprotein kalıcılığı"}},"xrefs":[{"source":"OMIM","code":"615970","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"R77.2","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0014425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863080","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98053,"name":"Rare genetic disease"},"parents":[{"orpha":447874,"name":"Biological anomaly without phenotypic characterization","classifications":[156]}],"children":[],"genes":[{"symbol":"AFP","name":"alpha fetoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7684942[PMID]","hgnc":"317","ensembl":"ENSG00000081051","omim":"104150","loci":["4q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"21116028[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21116028[PMID]"}],"phenotypes":null}