5C56.30

ICD-11 MMS 2026-01

Mucopolysaccharidosis type 1

Description

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.

Index terms

  • Mucopolysaccharidosis type 1
  • Alpha-L-iduronidase deficiency
  • Gargoylism
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  • Lipochondrodystrophy
  • MPS1 - [Mucopolysaccharidosis type 1]
  • dysostosis multiplex
  • dysostosis multiplex syndrome
  • l-iduronidase deficiency
  • Mucopolysaccharidosis type 1H
  • Hurler syndrome
  • MPS1H - [Mucopolysaccharidosis type 1H]
  • Mucopolysaccharidosis type 1, severe form
  • Mucopolysaccharidosis type 1H/S
  • Hurler-Scheie syndrome
  • MPS1H/S - [Mucopolysaccharidosis type 1H/S]
  • Mucopolysaccharidosis type 1, intermediate form
  • Mucopolysaccharidosis type 1S
  • MPS1S - [Mucopolysaccharidosis type 1S]
  • Mucopolysaccharidosis type 1, mild form
  • Scheie syndrome

Exclusions from above levels

  • 5C51.3 – Glycogen storage disease due to LAMP-2 deficiency
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
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  • 5A71.01 – Congenital adrenal hyperplasia
  • 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

  • 5C56.31 – Mucopolysaccharidosis type 2
  • 5C56.32 – Mucopolysaccharidosis type 4
  • 5C56.33 – Mucopolysaccharidosis type 6
  • 5C56.3Y – Other specified mucopolysaccharidosis
  • 5C56.3Z – Mucopolysaccharidosis, unspecified

Foundation entity

Mucopolysaccharidosis type 1 – http://id.who.int/icd/entity/1539226250

Part of: 5C56.3: Mucopolysaccharidosis › 5C56: Lysosomal diseases › 05: Endocrine, nutritional or metabolic diseases