5C56.31

ICD-11 MMS 2026-01

Mucopolysaccharidosis type 2

Description

Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses).

Index terms

  • Mucopolysaccharidosis type 2
  • Hunter syndrome
  • Iduronate 2-sulfatase deficiency
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  • MPS2 - [mucopolysaccharidosis 2]
  • iduronate 2-sulphatase deficiency
  • iduronate sulfatase deficiency
  • iduronate sulphatase deficiency
  • sulfo-iduronate sulfatase deficiency
  • sulfoiduronidate sulfatase deficiency
  • sulpho-iduronate sulphatase deficiency
  • sulphoiduronidate sulphatase deficiency
  • Mucopolysaccharidosis type 2A
  • Hunter syndrome type A
  • Iduronate 2-sulfatase deficiency type A
  • Mucopolysaccharidosis type 2, severe form
  • Mucopolysaccharidosis type 2B
  • Hunter syndrome type B
  • Iduronate 2-sulfatase deficiency type B
  • Mucopolysaccharidosis type 2, attenuated form
  • Mucopolysaccharidosis type 2, mild form

Inclusions

  • Hunter 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

  • 5C56.30 – Mucopolysaccharidosis type 1
  • 5C56.32 – Mucopolysaccharidosis type 4
  • 5C56.33 – Mucopolysaccharidosis type 6
  • 5C56.3Y – Other specified mucopolysaccharidosis
  • 5C56.3Z – Mucopolysaccharidosis, unspecified

Foundation entity

Mucopolysaccharidosis type 2 – http://id.who.int/icd/entity/1056274204

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