{"orpha":583607,"name":"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["3-phosphoglycerate dehydrogenase deficiency, prenatal form"],"definition":null,"note":"This disease is described under Neu-Laxova syndrome","url":"https://raremap.alftech.space/d/ORPHA-583607/","orphanet_url":"https://www.orpha.net/en/disease/detail/583607","names":{"fr":{"name":"Syndrome de Neu-Laxova par déficit en 3-phosphoglycerate déshydrogénase","synonyms":["Déficit en 3-phosphoglycerate déshydrogénase, forme prénatale"]},"de":{"name":"Neu-Laxova-Syndrom durch 3-Phosphoglycerat-Dehydrogenase-Mangel","synonyms":["3-Phosphoglycerat-Dehydrogenase-Defizienz, pränatale Form"]},"es":{"name":"Síndrome de Neu-Laxova por deficiencia de 3-fosfoglicerato deshidrogenasa","synonyms":["Deficiencia de 3-fosfoglicerato deshidrogenasa, forma prenatal"]},"it":{"name":"Sindrome di Neu-Laxova da deficit di 3-fosfoglicerato deidrogenasi","synonyms":["Deficit di 3-fosfoglicerato deidrogenasi, forma prenatale"]},"nl":{"name":"Syndroom van Neu-laxova door deficiëntie van 3-fosfoglyceraatdehydrogenase","synonyms":["Deficiëntie van 3-fosfoglyceraatdehydrogenase, prenatale vorm"]},"pt":{"name":"Síndrome Neu-Laxova por deficiência de 3-fosfoglicerato desidrogenase","synonyms":["Deficiência de 3-fosfoglicerato desidrogenase, forma pré-natal"]},"pl":{"name":"Zespół Neu'a i Laxovy z powodu deficytu dehydrogenazy 3-fosfoglicerylowej","synonyms":["Zespół Neu i Laxova spowodowany niedoborem dehydrogenazy 3-fosfoglicerynianowej"]},"cs":{"name":"Syndrom Neu-Laxové způsobený deficitem 3-fosfoglycerát dehydrogenázy","synonyms":["3-phosphoglycerate dehydrogenase deficiency, prenatal form"]},"uk":{"name":"Синдром Ноя-Лаксова, зумовлений дефіцитом 3-фосфогліцератдегідрогенази","synonyms":["Дефіцит 3-фосфогліцератдегідрогенази, пренатальна форма"]},"zh":{"name":"3-磷酸甘油酯脱氢酶缺乏所致Neu-laxova综合征","synonyms":["产前型3-磷酸甘油酯脱氢酶缺乏症"]},"tr":{"name":"3-fosfogliserat dehidrojenaz eksikliğine bağlı Neu-laxova sendromu","synonyms":["3-fosfogliserat dehidrojenaz eksikliği, doğum öncesi formu"]}},"xrefs":[{"source":"OMIM","code":"256520","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":"0009736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680336","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":"PHGDH","name":"phosphoglycerate dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24836451[PMID]","hgnc":"8923","ensembl":"ENSG00000092621","omim":"606879","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}