{"orpha":168612,"name":"Congenital deficiency in alpha-fetoprotein","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168612/","orphanet_url":"https://www.orpha.net/en/disease/detail/168612","names":{"fr":{"name":"Déficit congénital en alpha-foetoprotéine","definition":"Le déficit congénital en alpha-foetoprotéine est une anomalie génétique bénigne caractérisée par une diminution importante du taux d'alpha-foetoprotéine chez le foetus ou le nouveau-né."},"de":{"name":"Alpha-Fetoprotein-Mangel, kongenitaler","definition":"Der kongenitale Mangel von Alpha-Fetoprotein ist eine gutartige genetische Veränderung: Der Alpha-Fetoprotein-Spiegel bei Feten oder Neugeborenen ist dramatisch erniedrigt."},"es":{"name":"Deficiencia congénita de alfa-fetoproteína","definition":"El déficit congénito de alfa-fetoproteína es una enfermedad genética benigna que se caracteriza por un descenso dramático de los niveles de alfa-fetoproteína en el feto o el neonato."},"it":{"name":"Deficit congenito di alfa-feto-proteina","definition":"Il deficit congenito di alfa-fetoproteina è una malattia genetica benigna, caratterizzata da una significativa diminuzione dei livelli di alfa-fetoproteina nel feto o nel neonato."},"nl":{"name":"Congenitale deficiëntie van alfa-foetoproteïne","definition":"Een goedaardige genetische aandoening, gekenmerkt door dramatisch verlaagd gehalte van alfafoetoproteïne in foetus of neonaat."},"pt":{"name":"Deficiência congénita de alfa-fetoproteína"},"pl":{"name":"Wrodzony Niedobór alfa-fetoproteiny"},"cs":{"name":"Vrozený deficit alfa-fetoproteinu"},"uk":{"name":"Вроджений дефіцит альфа-фетопротеїну","definition":"Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate."},"zh":{"name":"先天性甲胎蛋白缺乏症","definition":"先天性甲胎蛋白缺乏症是一种良性遗传疾病，其主要临床表现为胎儿或新生儿甲胎蛋白水平显著降低。"},"tr":{"name":"Doğumsal alfa-fetoprotein eksikliği"}},"xrefs":[{"source":"OMIM","code":"615969","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"R77.2","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0014424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274336","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":"15280901[PMID]","hgnc":"317","ensembl":"ENSG00000081051","omim":"104150","loci":["4q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"18854864[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18854864[PMID]"}],"phenotypes":null}