5C54.1 Disorders of protein O-glycosylation
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Congenital disorders involving defective O-linked glycosylation, which typically occurs via an alpha linkage of the glycan to the hydroxyl group of a serine or threonine residue on a protein
code elsewhere
synonyms
- Disorders of protein O-glycosylation
- Defects in O-xylosylglycan synthesis
- Beta-1,4-galactosyltransferase 7 deficiency
- Defects in O-N-acetylgalactosaminylglycan synthesis
- Polypeptide N-acetylgalactosaminyl transferase deficiency
- Hyperphosphataemic familial tumoural calcinosis
- Defects in O-xylosyl/N-acetylgalactosaminylglycan synthesis
- Defects in O-mannosylglycan synthesis
- Protein-O-mannosyltransferase 1
- Protein-O-mannosyltransferase 2 deficiency
- Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency
- Fukutin deficiency
- Fukutin-related protein deficiency
- N-acetylglucosaminyltransferase-like protein deficiency
- O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency
- O-fucose-specific beta-1,3-N-glucosyltransferase deficiency
Thank you for choosing Find-A-Code, please Sign In to remove ads.