{"orpha":79332,"name":"B4GALT1-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-1,4-galactosyltransferase deficiency","CDG syndrome type IId","CDG-IId","CDG2D","Carbohydrate deficient glycoprotein syndrome type IId","Congenital disorder of glycosylation type 2d","Congenital disorder of glycosylation type IId"],"definition":"B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the <i>GALT1</i> gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79332/","orphanet_url":"https://www.orpha.net/en/disease/detail/79332","names":{"fr":{"name":"B4GALT1-CDG","synonyms":["Anomalie congénitale de la glycosylation type 2d","Anomalie congénitale de la glycosylation type IId","CDG-IId","CDG2D","Déficit en bêta-1,4-galactosyltransférase","Syndrome CDG type IId","Syndrome des glycoprotéines déficientes en hydrates de carbone type IId"],"definition":"B4GALT1-CDG se caractérise par une macrocéphalie due à une malformation de Dandy Walker, une hydrocéphalie, une hypotonie, une myopathie et des anomalies de la coagulation. Le cas d'un seul garçon a été décrit à ce jour. Ce syndrome est associé à un déficit en béta1,4-galactosyl transférase, enzyme de l'appareil de Golgi. Ce déficit est dû à des mutations du gène <i>GALT1</i>, localisé sur le chromosome 9, dans la région q13."},"de":{"name":"B4GALT1-CDG","synonyms":["Beta-1,4-Galaktosyltransferase-Mangel","CDG-IId","CDG-Syndrom Typ IId","CDG2D","Kohlenhydrat-defizientes Glykoprotein-Syndrom IId","Kongenitaler Defekt der Glycoproteinbiosynthese Typ IId"],"definition":"Die Kongenitalen Glykosylierungs-Defekt (CDG)-Syndrome sind eine Gruppe von autosomal-rezessiv vererbten Krankheiten mit gestörter Synthese von Glykoproteinen. Das CDG-Syndrom Typ IId (CDG 2D) ist gekennzeichnet durch Dandy-Walker-Malformation mit Makrozephalie, Hydrozephalus, Muskelhypotonie, Myopathie und Gerinnungsstörungen."},"es":{"name":"B4GALT1-CDG","synonyms":["CDG-IId","CDG2D","Deficiencia de beta-1,4-galactosiltransferasa","Síndrome CDG tipo IId","Síndrome de glicoproteínas deficientes en carbohidratos tipo IId","Trastorno congénito de la glicosilación tipo 2d","Trastorno congénito de la glicosilación tipo IId"],"definition":"Es un trastorno caracterizado por macrocefalia debida a la malformación de Dandy-Walker, hidrocefalia, hipotonía, miopatía y anomalías de la coagulación. Hasta la fecha, sólo se ha descrito un caso. El síndrome está asociado a mutaciones en el gen <i>GALT1</i> (localizado en la región q13 del cromosoma 9) que conducen a una deficiencia en la enzima beta-1,4-galactosil transferasa del aparato de Golgi."},"it":{"name":"B4GALT1-CDG","synonyms":["CDG-IId","CDG2D","Deficit di beta-1,4-galattosiltransferasi","Disturbo congenito della glicosilazione, tipo 2d","Disturbo congenito della glicosilazione, tipo IId","Sindrome CDG, tipo IId","Sindrome delle glicoproteine carenti in carboidrati, tipo IId"]},"nl":{"name":"B4GALT1-CDG","synonyms":["Bèta-1,4-galactosyltransferasedeficiëntie","CDG-IId","CDG-syndroom type IId","CDG2D","Congenitale defecten van de glycosylering type 2d","Congenitale defecten van de glycosylering type IId","Congenitale glycosylatiestoornis type 2d","Congenitale glycosylatiestoornis type IId","Koolhydraatdeficiënt glycoproteïne-syndroom type IId"],"definition":"Een congenitaal defect van glycosylering, gekenmerkt door macrocefalie als gevolg van Dandy-Walker malformatie, hydrocefalie, hypotonie, myopathie, en anomalieën van coagulatie. Tot op heden werd slechts één geval van B4GALT1-CDG gerapporteerd. Het syndroom is geassocieerd met mutaties in het gen <i>GALT1</i> (gelokaliseerd in de regio q13 van chromosoom 9), die leiden tot deficiëntie van het enzym bèta-1,4-galactosyl-transferase in Golgi-apparaat."},"pt":{"name":"B4GALT1-CDG","synonyms":["CDG-IId","CDG2D","Deficiência de beta-1,4-galactosiltransferase","Doença congénita da glicosilação tipo 2d","Doença congénita da glicosilação tipo IId","Síndrome CDG tipo IId","Síndrome de glicoproteína deficiente em carbohidratos tipo IId"]},"pl":{"name":"B4GALT1-CDG","synonyms":["CDG2D","CDG-IId","Niedobór beta-1,4-galaktozylotransferazy","Wrodzone zaburzenie glikozylacji typu 2d","Wrodzone zaburzenie glikozylacji typu IId","Zespół CDG typu IId","Zespół obniżonej glikozylacji glikoprotein IId"]},"cs":{"name":"B4GALT1-CDG","synonyms":["Deficit beta-1,4-galaktosyltransferázy","CDg syndrom, typ IId","CDG-IId","CDG2D","Carbohydrate deficient glycoprotein syndrom type IId","Vrozená porucha glykosylace, typ 2d","Vrozená porucha glykosylace, typ IId","Syndrom s deficitem karbohydrátového glykoproteinu typ IId"]},"uk":{"name":"B4GALT1-CDG","synonyms":["Дефіцит бета-1,4-галактозилтрансферази","Вуглеводно-дефіцитний глікопротеїновий синдром типу IId","Синдром CDG, тип IId","CDG2D","CDG-IId","Вроджене порушення глікозилювання типу 2d","Вроджене порушення глікозилювання типу IId"],"definition":"B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the <i>GALT1</i> gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase."},"zh":{"name":"先天性糖基化障碍2d型","synonyms":["糖蛋白缺乏综合征Ⅱd型"]},"tr":{"name":"B4GALT1-CDG","synonyms":["CDG2D","CDG-IId","CDG sendromu tip IId","Beta-1,4-galaktosiltransferaz eksikliği","Glikozilasyon tip 2d'nin doğumsal bozukluğu","Glikozilasyon tip IId'nin doğumsal bozukluğu","Karbonhidrat eksikliği olan glikoprotein sendromu tip IId"]}},"xrefs":[{"source":"OMIM","code":"607091","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C54.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2127970541"},{"source":"MONDO","code":"0011772","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931009","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371157,"name":"Congenital disorder of glycosylation with hepatic involvement","classifications":[156,183]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]},{"orpha":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"B4GALT1","name":"beta-1,4-galactosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301507[PMID]","hgnc":"924","ensembl":"ENSG00000086062","omim":"137060","loci":["9p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11930273[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11930273[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-01","source":"21920538[PMID]_28139241[PMID]_31800099[PMID]_20301507[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012301","label":"Type II transferrin isoform profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003256","label":"Abnormality of the coagulation cascade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003563","label":"Decreased LDL cholesterol concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005543","label":"Reduced protein C activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004855","label":"Reduced protein S activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}