5C54.0 Disorders of protein N-glycosylation
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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).
synonyms
- 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
Thank you for choosing Find-A-Code, please Sign In to remove ads.