B4GALT1-congenital disorder of glycosylation
http://purl.obolibrary.org/obo/MONDO_0011772
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 GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. [ Orphanet:79332 ]
Term info
- OMIM:607091 (Orphanet:79332/e)
- DOID:0070256 (MONDO:equivalentTo)
- UMLS:C2931009 (Orphanet:79332)
- Orphanet:79332 (OMIM:607091)
- SCTID:725587007 (MONDO:equivalentTo)
- MESH:C535753 (MONDO:equivalentTo)
- GARD:0009841 (MONDO:equivalentTo)
ordo_disease
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 GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
http://linkedlifedata.com/resource/umls/id/C2931009, http://purl.obolibrary.org/obo/DOID_0070256, https://omim.org/entry/607091, http://identifiers.org/mesh/C535753, http://identifiers.org/snomedct/725587007, http://purl.obolibrary.org/obo/Orphanet_79332
congenital disorder of glycosylation type 2d, congenital disorder of glycosylation type IId, CDG-IId, carbohydrate deficient glycoprotein syndrome type IId, Beta-1,4-galactosyltransferase deficiency, B4GALT1-CDG, CDG2D, B4GALT1-congenital disorder of glycosylation, CDG syndrome type IId
congenital disorder of glycosylation, type IId, B4GALT1-CDG (CDG-IId), CDG IId, CDG 2D
MONDO:0011772