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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

• Multiple osteochondromas  (LD24.20)

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

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