5C54.0

ICD-11 MMS 2026-01

Disorders of protein N-glycosylation

Description

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).

Index terms

  • Disorders of protein N-glycosylation
  • Phosphomannomutase 2 deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1A
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  • Carbohydrate deficient glycoprotein syndrome type 1A
  • Congenital disorder of glycosylation type 1A
  • Phosphomannose isomerase deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1B
  • Carbohydrate deficient glycoprotein syndrome type 1B
  • Congenital disorder of glycosylation type 1B
  • SLSJ - [Saguenay-Lac-Saint-Jean] syndrome
  • Saguenay-Lac-Saint-Jean syndrome
  • Glucosyltransferase 1 deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1C
  • Carbohydrate deficient glycoprotein syndrome type 1C
  • Congenital disorder of glycosylation type 1C
  • Dol-P-Glc: Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency
  • Mannosyltransferase 6 deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1D
  • Carbohydrate deficient glycoprotein syndrome type 1D
  • Congenital disorder of glycosylation type 1D
  • Dol-P-Man: Man5-GlcNAc2-P-P-Dol mannosyltransferase deficiency
  • Mannosyltransferase 8 deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1G
  • Carbohydrate deficient glycoprotein syndrome type 1G
  • Congenital disorder of glycosylation type 1G
  • Dol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase deficiency
  • Glucosyltransferase 2 deficiency
  • CDG - [[Congenital disorder of glycosylation] syndrome type 1H
  • Carbohydrate deficient glycoprotein syndrome 1H
  • Congenital disorder of glycosylation type 1H
  • Dol-P-Glc: Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase deficiency
  • Mannosyltransferase 2 deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1I
  • Carbohydrate deficient glycoprotein syndrome 1I
  • Congenital disorder of glycosylation 1I
  • Dol-P-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase deficiency
  • Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
  • CDG - [[Congenital disorder of glycosylation] syndrome type 1J
  • Carbohydrate deficient glycoprotein syndrome type 1J
  • Congenital disorder of glycosylation type 1J
  • UDP-GlcNAc: Dol-P-GlcNac-P transferase deficiency
  • Mannosyltransferase 1 deficiency
  • CDG - [[Congenital disorder of glycosylation] syndrome type 1K
  • Carbohydrate deficient glycoprotein syndrome type 1K
  • Congenital disorder of glycosylation type 1K
  • Dol-P-Man: GlcNAc2-P-P-Dol mannosyltransferase deficiency
  • Mannosyltransferase 7-9 deficiency
  • CDG - [[Congenital disorder of glycosylation] syndrome type 1L
  • Carbohydrate deficient glycoprotein syndrome type 1L
  • Congenital disorder of glycosylation type 1L
  • Dol-P-Man: Man6 and Man8-GlcNAc2-P-P-Dol mannosyltransferase deficiency
  • M5-DLO flippase deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 1N
  • Man5GlcNAc2-PP-Dol flippase deficiency
  • RTF1-CDG
  • N-acetylglucosaminyltransferase deficiency
  • CDG - [[Congenital disorder of glycosylation] syndrome type 2A
  • Carbohydrate deficient glycoprotein syndrome type 2A
  • Congenital disorder of glycosylation type 2A
  • Glucosidase 1 deficiency
  • CDG - [Congenital disorder of glycosylation] syndrome type 2B
  • Carbohydrate deficient glycoprotein syndrome type 2B
  • Congenital disorder of glycosylation type 2B
  • TUSC3 congenital disorder of glycosylation
  • TUSC3-CDG
  • SRD5A3 congenital disorder of glycosylation
  • Congenital disorder of glycosylation due to steroid 5-alpha-reductase type 3 deficiency
  • Intellectual deficit - cataract - coloboma - kyphosis
  • Intellectual deficit, Kahrizi type
  • Kahrizi syndrome
  • SRD5A3-CDG
  • DPM3 congenital disorder of glycosylation
  • CDG - [Congenital disorder of glycosylation] syndrome type 1O
  • Carbohydrate deficient glycoprotein syndrome type 1O
  • Congenital disorder of glycosylation 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
  • Congenital disorder of glycosylation type 1t
  • PGM1-CDG - [Phosphoglucomutase-1 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

Sibling codes

  • 5C54.1 – Disorders of protein O-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 N-glycosylation – http://id.who.int/icd/entity/292641586

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