{"orpha":583602,"name":"Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Phosphoserine aminotransferase deficiency, prenatal form"],"definition":null,"note":"This disease is described under Neu-Laxova syndrome","url":"https://raremap.alftech.space/d/ORPHA-583602/","orphanet_url":"https://www.orpha.net/en/disease/detail/583602","names":{"fr":{"name":"Syndrome de Neu-Laxova par déficit en phosphosérine aminotransférase","synonyms":["Déficit en phosphosérine aminotransférase, forme prénatale"]},"de":{"name":"Neu-Laxova-Syndrom durch Phosphoserin-Aminotransferase-Mangel","synonyms":["Phosphoserin-Aminotransferase-Defizienz, pränatale Form"]},"es":{"name":"Síndrome de Neu-Laxova por deficiencia de fosfoserina aminotransferasa","synonyms":["Deficiencia de fosfoserina aminotransferasa, forma prenatal"]},"it":{"name":"Sindrome di Neu-Laxova da deficit di fosfoserina aminotransferasi","synonyms":["Deficit di fosfoserina aminotransferasi, forma prenatale"]},"nl":{"name":"Syndroom van Neu-laxova door deficiëntie van fosfoserine-aminotransferase","synonyms":["Deficiëntie van fosfoserine-aminotransferase, prenatale vorm"]},"pt":{"name":"Síndrome Neu-Laxova por deficiência de fosfoserina aminotransferase","synonyms":["Deficiência de fosfoserina aminotransferase, forma pré-natal"]},"pl":{"name":"Zespół Neu'a i Laxovy z powodu deficytu aminotransferazy fosfoseryny","synonyms":["Zespół Neu i Laxova spowodowany niedoborem aminotransferazy fosfoserynowej"]},"cs":{"name":"Syndrom Neu-Laxové způsobený deficitem fosfoserinaminotransferázy","synonyms":["Phosphoserine aminotransferase deficiency, prenatal form"]},"uk":{"name":"Синдром Ноя-Лаксова, зумовлений дефіцитом фосфосеринамінотрансферази","synonyms":["Дефіцит фосфосеринамінотрансферази, внутрішньоутробна форма"]},"zh":{"name":"磷酸丝氨酸氨基转移酶缺乏症所致Neu-laxova综合征","synonyms":["产前型磷酸丝氨酸氨基转移酶缺乏症"]},"tr":{"name":"Fosfoserin aminotransferaz eksikliğine bağlı Neu-laxova sendromu","synonyms":["Fosfoserin aminotransferaz eksikliği, doğum öncesi formu"]}},"xrefs":[{"source":"OMIM","code":"616038","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680335","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2671,"name":"Neu-Laxova syndrome","classifications":[147,150,156,181,187,189]}],"children":[],"genes":[{"symbol":"PSAT1","name":"phosphoserine aminotransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25152457[PMID]","hgnc":"19129","ensembl":"ENSG00000135069","omim":"610936","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}