Disorders of protein O-glycosylation

Description

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

Index terms

Disorders of protein O-glycosylation
Defects in O-xylosylglycan synthesis
Beta-1,4-galactosyltransferase 7 deficiency

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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

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Foundation children elsewhere

LD24.20 – Multiple osteochondromas

Sibling codes

5C54.0 – Disorders of protein N-glycosylation
5C54.2 – Disorders of multiple glycosylation or other pathways
5C54.Y – Other specified inborn errors of glycosylation or other specified protein modification
5C54.Z – Inborn errors of glycosylation or protein modification, unspecified

Foundation entity

Disorders of protein O-glycosylation – http://id.who.int/icd/entity/1883085871

Part of: 5C54: Inborn errors of glycosylation or other specified protein modification › 05: Endocrine, nutritional or metabolic diseases