Нарушения белкового N-гликозилирования

Врожденные нарушения белкового N-гликозилирования (добавления гликанов, связанных с полипептидной цепью бета-связью между аномерным углеродом N-ацетилглюкозамином и амидной группой L-аспарагина).

• Disorders of protein N-glycosylation
• Phosphomannomutase 2 deficiency
• Carbohydrate deficient glycoprotein syndrome type 1A
• Congenital disorder of glycosylation type 1A
• CDG - [Congenital disorder of glycosylation] syndrome type 1A
• Phosphomannose isomerase deficiency
• Saguenay-Lac-Saint-Jean syndrome
• Carbohydrate deficient glycoprotein syndrome type 1B
• Congenital disorder of glycosylation type 1B
• CDG - [Congenital disorder of glycosylation] syndrome type 1B
• SLSJ - [Saguenay-Lac-Saint-Jean] syndrome
• Glucosyltransferase 1 deficiency
• Dol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1C
• Congenital disorder of glycosylation type 1C
• CDG - [Congenital disorder of glycosylation] syndrome type 1C
• Mannosyltransferase 6 deficiency
• Dol-P-Man: Man5-GlcNAc2-P-P-Dol mannosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1D
• Congenital disorder of glycosylation type 1D
• CDG - [Congenital disorder of glycosylation] syndrome type 1D
• Mannosyltransferase 8 deficiency
• Dol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1G
• Congenital disorder of glycosylation type 1G
• CDG - [Congenital disorder of glycosylation] syndrome type 1G
• Glucosyltransferase 2 deficiency
• Dol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome 1H
• Congenital disorder of glycosylation type 1H
• CDG - [[Congenital disorder of glycosylation] syndrome type 1H
• Mannosyltransferase 2 deficiency
• Dol-P-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome 1I
• Congenital disorder of glycosylation 1I
• CDG - [Congenital disorder of glycosylation] syndrome type 1I
• Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
• UDP-GlcNAc: Dol-P-GlcNac-P transferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1J
• Congenital disorder of glycosylation type 1J
• CDG - [[Congenital disorder of glycosylation] syndrome type 1J
• Mannosyltransferase 1 deficiency
• Dol-P-Man: GlcNAc2-P-P-Dol mannosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1K
• Congenital disorder of glycosylation type 1K
• CDG - [[Congenital disorder of glycosylation] syndrome type 1K
• Mannosyltransferase 7-9 deficiency
• Congenital disorder of glycosylation type 1L
• Dol-P-Man: Man6 and Man8-GlcNAc2-P-P-Dol mannosyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 1L
• CDG - [[Congenital disorder of glycosylation] syndrome type 1L
• M5-DLO flippase deficiency
• Man5GlcNAc2-PP-Dol flippase deficiency
• RTF1-CDG
• CDG - [Congenital disorder of glycosylation] syndrome type 1N
• N-acetylglucosaminyltransferase deficiency
• Carbohydrate deficient glycoprotein syndrome type 2A
• Congenital disorder of glycosylation type 2A
• CDG - [[Congenital disorder of glycosylation] syndrome type 2A
• Glucosidase 1 deficiency
• Carbohydrate deficient glycoprotein syndrome type 2B
• Congenital disorder of glycosylation type 2B
• CDG - [Congenital disorder of glycosylation] syndrome type 2B
• TUSC3 congenital disorder of glycosylation
• TUSC3-CDG
• SRD5A3 congenital disorder of glycosylation
• SRD5A3-CDG
• Congenital disorder of glycosylation due to steroid 5-alpha-reductase type 3 deficiency
• Intellectual deficit - cataract - coloboma - kyphosis
• Kahrizi syndrome
• Intellectual deficit, Kahrizi type
• DPM3 congenital disorder of glycosylation
• Congenital disorder of glycosylation type 1O
• Carbohydrate deficient glycoprotein syndrome type 1O
• CDG - [Congenital disorder of glycosylation] syndrome type 1O
• ALG11 congenital disorder of glycosylation
• CDG - [Congenital disorder of glycosylation] syndrome type 1P
• Carbohydrate deficient glycoprotein syndrome type 1P
• Congenital disorder of glycosylation type 1P
• Phosphoglucomutase-1 deficiency
• PGM1-CDG - [Phosphoglucomutase-1 deficiency]
• Congenital disorder of glycosylation type 1t