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Mucopolysaccharidosis type 3

Disease definition

Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.

ORPHA:581

  • Synonym(s):
    • MPS3
    • MPSIII
    • Mucopolysaccharidosis type III
    • Sanfilippo disease
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E76.2
  • OMIM: 252900  252920  252930  252940
  • UMLS: C0026706  C0086648
  • MeSH: D009084
  • GARD: 3807
  • MedDRA: 10056890

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