5C54.0
Disorders of protein N-glycosylation
Distúrbios da N-glicosilação proteica
CategoryDefinition
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).
Index Terms
Disorders of protein N-glycosylationPhosphomannomutase 2 deficiencyCarbohydrate deficient glycoprotein syndrome type 1ACongenital disorder of glycosylation type 1ACDG - [Congenital disorder of glycosylation] syndrome type 1APhosphomannose isomerase deficiencySaguenay-Lac-Saint-Jean syndromeCarbohydrate deficient glycoprotein syndrome type 1BCongenital disorder of glycosylation type 1BCDG - [Congenital disorder of glycosylation] syndrome type 1BSLSJ - [Saguenay-Lac-Saint-Jean] syndromeGlucosyltransferase 1 deficiencyDol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1CCongenital disorder of glycosylation type 1CCDG - [Congenital disorder of glycosylation] syndrome type 1CMannosyltransferase 6 deficiencyDol-P-Man: Man5-GlcNAc2-P-P-Dol mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1DCongenital disorder of glycosylation type 1DCDG - [Congenital disorder of glycosylation] syndrome type 1DMannosyltransferase 8 deficiencyDol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1GCongenital disorder of glycosylation type 1GCDG - [Congenital disorder of glycosylation] syndrome type 1GGlucosyltransferase 2 deficiencyDol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome 1HCongenital disorder of glycosylation type 1HCDG - [[Congenital disorder of glycosylation] syndrome type 1HMannosyltransferase 2 deficiencyDol-P-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome 1ICongenital disorder of glycosylation 1ICDG - [Congenital disorder of glycosylation] syndrome type 1IDolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiencyUDP-GlcNAc: Dol-P-GlcNac-P transferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1JCongenital disorder of glycosylation type 1JCDG - [[Congenital disorder of glycosylation] syndrome type 1JMannosyltransferase 1 deficiencyDol-P-Man: GlcNAc2-P-P-Dol mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1KCongenital disorder of glycosylation type 1KCDG - [[Congenital disorder of glycosylation] syndrome type 1KMannosyltransferase 7-9 deficiencyCongenital disorder of glycosylation type 1LDol-P-Man: Man6 and Man8-GlcNAc2-P-P-Dol mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 1LCDG - [[Congenital disorder of glycosylation] syndrome type 1LM5-DLO flippase deficiencyMan5GlcNAc2-PP-Dol flippase deficiencyRTF1-CDGCDG - [Congenital disorder of glycosylation] syndrome type 1NN-acetylglucosaminyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type 2ACongenital disorder of glycosylation type 2ACDG - [[Congenital disorder of glycosylation] syndrome type 2AGlucosidase 1 deficiencyCarbohydrate deficient glycoprotein syndrome type 2BCongenital disorder of glycosylation type 2BCDG - [Congenital disorder of glycosylation] syndrome type 2BTUSC3 congenital disorder of glycosylationTUSC3-CDGSRD5A3 congenital disorder of glycosylationSRD5A3-CDGCongenital disorder of glycosylation due to steroid 5-alpha-reductase type 3 deficiencyIntellectual deficit - cataract - coloboma - kyphosisKahrizi syndromeIntellectual deficit, Kahrizi typeDPM3 congenital disorder of glycosylationCongenital disorder of glycosylation type 1OCarbohydrate deficient glycoprotein syndrome type 1OCDG - [Congenital disorder of glycosylation] syndrome type 1OALG11 congenital disorder of glycosylationCDG - [Congenital disorder of glycosylation] syndrome type 1PCarbohydrate deficient glycoprotein syndrome type 1PCongenital disorder of glycosylation type 1PPhosphoglucomutase-1 deficiencyPGM1-CDG - [Phosphoglucomutase-1 deficiency]Congenital disorder of glycosylation type 1t