{"orpha":695110,"name":"MAN2B2-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Carbohydrate deficient glycoprotein syndrome due to MAN2B2","MAN2B2-congenital disorder of glycosylation","Mannosidase alpha class 2B member 2-congenital disorder of glycosylation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695110/","orphanet_url":"https://www.orpha.net/en/disease/detail/695110","names":{"fr":{"name":"MAN2B2-CDG","synonyms":["Anomalie congénitale de la glycosylation par déficit en MAN2B2","Anomalie congénitale de la glycosylation par déficit en protéine Mannosidase alpha class 2B member 2","Syndrome des glycoprotéines déficientes en hydrate de carbone par déficit en MAN2B2"]},"de":{"name":"MAN2B2-CDG","synonyms":["Alpha-1,6-Mannosidase-Mangel","CDG-1EE","CDG-Syndrom Typ 1EE","Kohlenhydrat-defizientes Glykoprotein-Syndrom 1EE","Kongenitaler Defekt der Glycoproteinbiosynthese Typ 1EE"]},"es":{"name":"MAN2B2-CDG","synonyms":["Síndrome de glicoproteínas deficientes en carbohidratos asociado a MAN2B2","Trastorno congénito de la glicosilación alfa-manosidasa clase 2B miembro 2","Trastorno congénito de la glicosilación-MAN2B2"]},"it":{"name":"MAN2B2-CDG","synonyms":["Sindrome della glicoproteina carente di carboidrati correlata a MAN2B2","Disturbo congenito della glicosilazione correlato a MAN2B2","Disturbo congenito della glicosilazione correlato al membro 2 della mannosidasi alfa classe 2B"]},"nl":{"name":"MAN2B2-CDG","synonyms":["Koolhydraatdeficiënt glycoproteïne syndroom door MAN2B2","MAN2B2-congenitale glycosylatiestoornis","Mannosidase alfa klasse 2B lid 2-congenitale glycosylatiestoornis"]},"pt":{"name":"MAN2B2-CDG"},"pl":{"name":"MAN2B2-CDG","synonyms":["Carbohydrate deficient glycoprotein syndrome due to MAN2B2","MAN2B2-congenital disorder of glycosylation","Mannosidase alpha class 2B member 2-congenital disorder of glycosylation"]},"cs":{"name":"MAN2B2-CDG","synonyms":["Carbohydrate deficient glycoprotein syndrome due to MAN2B2","MAN2B2-congenital disorder of glycosylation","Mannosidase alpha class 2B member 2-congenital disorder of glycosylation"]}},"xrefs":[{"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":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":"MAN2B2","name":"mannosidase alpha class 2B member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35637269[PMID]_31775018[PMID]","hgnc":"29623","ensembl":"ENSG00000013288","omim":"618899","loci":["4p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"38622837[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38622837[PMID]_ORPHANET"}],"phenotypes":null}