5C54.0
category
Disorders of protein N-glycosylation
Definition
Congenital disorders involving defective N-glycosylation of proteins (the addition of glycans linked to the polypeptide chain by a beta-linkage between the anomeric carbon of N-acetylglucosamine and the amido group of L-asparagine).
Also indexed as
ALG11 congenital disorder of glycosylationCDG - [Congenital disorder of glycosylation] syndrome type 1ACDG - [Congenital disorder of glycosylation] syndrome type 1BCDG - [Congenital disorder of glycosylation] syndrome type 1CCDG - [Congenital disorder of glycosylation] syndrome type 1DCDG - [Congenital disorder of glycosylation] syndrome type 1GCDG - [Congenital disorder of glycosylation] syndrome type 1ICDG - [Congenital disorder of glycosylation] syndrome type 1NCDG - [Congenital disorder of glycosylation] syndrome type 1OCDG - [Congenital disorder of glycosylation] syndrome type 1PCDG - [Congenital disorder of glycosylation] syndrome type 2BCDG - [[Congenital disorder of glycosylation] syndrome type 1HCDG - [[Congenital disorder of glycosylation] syndrome type 1JCDG - [[Congenital disorder of glycosylation] syndrome type 1KCDG - [[Congenital disorder of glycosylation] syndrome type 1LCDG - [[Congenital disorder of glycosylation] syndrome type 2ACarbohydrate deficient glycoprotein syndrome 1HCarbohydrate deficient glycoprotein syndrome 1ICarbohydrate deficient glycoprotein syndrome type 1ACarbohydrate deficient glycoprotein syndrome type 1BCarbohydrate deficient glycoprotein syndrome type 1CCarbohydrate deficient glycoprotein syndrome type 1DCarbohydrate deficient glycoprotein syndrome type 1GCarbohydrate deficient glycoprotein syndrome type 1JCarbohydrate deficient glycoprotein syndrome type 1KCarbohydrate deficient glycoprotein syndrome type 1LCarbohydrate deficient glycoprotein syndrome type 1OCarbohydrate deficient glycoprotein syndrome type 1PCarbohydrate deficient glycoprotein syndrome type 2ACarbohydrate deficient glycoprotein syndrome type 2BCongenital disorder of glycosylation 1ICongenital disorder of glycosylation due to steroid 5-alpha-reductase type 3 deficiencyCongenital disorder of glycosylation type 1ACongenital disorder of glycosylation type 1BCongenital disorder of glycosylation type 1CCongenital disorder of glycosylation type 1DCongenital disorder of glycosylation type 1GCongenital disorder of glycosylation type 1HCongenital disorder of glycosylation type 1JCongenital disorder of glycosylation type 1KCongenital disorder of glycosylation type 1LCongenital disorder of glycosylation type 1OCongenital disorder of glycosylation type 1PCongenital disorder of glycosylation type 1tCongenital disorder of glycosylation type 2ACongenital disorder of glycosylation type 2BDPM3 congenital disorder of glycosylationDisorders of protein N-glycosylationDol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiencyDol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiencyDol-P-Man: GlcNAc2-P-P-Dol mannosyltransferase deficiencyDol-P-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase deficiencyDol-P-Man: Man5-GlcNAc2-P-P-Dol mannosyltransferase deficiencyDol-P-Man: Man6 and Man8-GlcNAc2-P-P-Dol mannosyltransferase deficiencyDol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase deficiencyDolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiencyGlucosidase 1 deficiencyGlucosyltransferase 1 deficiencyGlucosyltransferase 2 deficiencyIntellectual deficit - cataract - coloboma - kyphosisIntellectual deficit, Kahrizi typeKahrizi syndromeM5-DLO flippase deficiencyMan5GlcNAc2-PP-Dol flippase deficiencyMannosyltransferase 1 deficiencyMannosyltransferase 2 deficiencyMannosyltransferase 6 deficiencyMannosyltransferase 7-9 deficiencyMannosyltransferase 8 deficiencyN-acetylglucosaminyltransferase deficiencyPGM1-CDG - [Phosphoglucomutase-1 deficiency]Phosphoglucomutase-1 deficiencyPhosphomannomutase 2 deficiencyPhosphomannose isomerase deficiencyRTF1-CDGSLSJ - [Saguenay-Lac-Saint-Jean] syndromeSRD5A3 congenital disorder of glycosylationSRD5A3-CDGSaguenay-Lac-Saint-Jean syndromeTUSC3 congenital disorder of glycosylationTUSC3-CDGUDP-GlcNAc: Dol-P-GlcNac-P transferase deficiency