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Mucopolysaccharidosis type 1

Disease definition

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

ORPHA:579

  • Synonym(s):
    • Alpha-L-iduronidase deficiency
    • MPS1
    • MPSI
    • Mucopolysaccharidosis type I
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E76.0
  • OMIM: 607014  607015  607016
  • UMLS: C0023786  C2713321
  • MeSH: D008059
  • GARD: 10335
  • MedDRA: 10056886

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