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Mucopolysaccharidosis type 2, attenuated form

Disease definition

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

ORPHA:217093

Classification level: Subtype of disorder
  • Synonym(s):
    • Hunter syndrome type B
    • Iduronate 2-sulfatase deficiency type B
    • MPS2B
    • MPSIIB
    • Mucopolysaccharidosis type 2B
    • Mucopolysaccharidosis type II, attenuated form
    • Mucopolysaccharidosis type IIB
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: E76.1
  • OMIM: 309900
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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