{"orpha":697734,"name":"ST3GAL3-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ST3GAL3-related carbohydrate deficient glycoprotein syndrome","ST3GAL3-related congenital disorder of glycosylation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697734/","orphanet_url":"https://www.orpha.net/en/disease/detail/697734","names":{"fr":{"name":"ST3GAL3-CDG","synonyms":["Anomalie congénitale de la glycosylation associée à ST3GAL3","Syndrome des glycoprotéines déficientes en hydrates de carbone associé à ST3GAL3"]},"de":{"name":"ST3GAL3-CDG","synonyms":["Kohlenhydrat-defizientes Glykoprotein-Syndrom, ST3GAL3-assoziiertes","ST3GAL3-assoziierte kongenitale Glykosylierungsstörung"]},"es":{"name":"ST3GAL3-CDG","synonyms":["Síndrome de glicoproteínas deficientes en carbohidratos asociado a ST3GAL3","Trastorno congénito de la glicosilación asociado a ST3GAL3"]},"it":{"name":"ST3GAL3-CDG","synonyms":["Sindrome da glicoproteina carente in carboidrati correlata a ST3GAL3","Disturbo congenito della glicosilazione correlato a ST3GAL3"]},"nl":{"name":"ST3GAL3-CDG","synonyms":["ST3GAL3-gerelateerd koolhydraatdeficiënt glycoproteïne syndroom","ST3GAL3-gerelateerde congenitale glycosylatiestoornis"]},"pt":{"name":"ST3GAL3-CDG"},"pl":{"name":"ST3GAL3-CDG","synonyms":["ST3GAL3-related carbohydrate deficient glycoprotein syndrome","ST3GAL3-related congenital disorder of glycosylation"]},"cs":{"name":"ST3GAL3-CDG","synonyms":["ST3GAL3-related carbohydrate deficient glycoprotein syndrome","ST3GAL3-related congenital disorder of glycosylation"]}},"xrefs":[{"source":"OMIM","code":"611090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615006","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ST3GAL3","name":"ST3 beta-galactoside alpha-2,3-sialyltransferase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37067065[PMID]","hgnc":"10866","ensembl":"ENSG00000126091","omim":"606494","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}