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Mucopolysaccharidosis type 2, severe form

Disease definition

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

ORPHA:217085

Classification level: Subtype of disorder
  • Synonym(s):
    • Hunter syndrome type A
    • Iduronate 2-sulfatase deficiency type A
    • MPS2A
    • MPSIIA
    • Mucopolysaccharidosis type 2A
    • Mucopolysaccharidosis type II, severe form
    • Mucopolysaccharidosis type IIA
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E76.1
  • OMIM: 309900
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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