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Mucopolysaccharidosis type 2

Disease definition

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

ORPHA:580

Classification level: Disorder
  • Synonym(s):
    • Hunter syndrome
    • Iduronate 2-sulfatase deficiency
    • MPS2
    • MPSII
    • Mucopolysaccharidosis type II
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E76.1
  • OMIM: 309900
  • UMLS: C0026705  C2718304
  • MeSH: D016532
  • GARD: 6675
  • MedDRA: 10056889

Detailed information

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