Catalog
Disorders of protein N-glycosylation
Link to WHO Definition
Disorders of protein N-glycosylation – http://id.who.int/icd/entity/292641586
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).
Parents
Children
- Glucosyltransferase 2 deficiency
- ALG11 congenital disorder of glycosylation
- DPM3 congenital disorder of glycosylation
- Phosphoglucomutase-1 deficiency
- Mannosyltransferase 8 deficiency
- Mannosyltransferase 6 deficiency
- Mannosyltransferase 2 deficiency
- SRD5A3 congenital disorder of glycosylation
- M5-DLO flippase deficiency
- Mannosyltransferase 7-9 deficiency
- TUSC3 congenital disorder of glycosylation
- Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
- Phosphomannomutase 2 deficiency
- Glucosyltransferase 1 deficiency
- N-acetylglucosaminyltransferase deficiency
- Phosphomannose isomerase deficiency
- Mannosyltransferase 1 deficiency
- Glucosidase 1 deficiency