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Mucopolysaccharidosis type 4

Disease definition

Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.

ORPHA:582

  • Synonym(s):
    • MPS4
    • MPSIV
    • Morquio disease
    • Mucopolysaccharidosis type IV
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E76.2
  • OMIM: 252300  253000  253010
  • UMLS: C0026707  C0086651
  • MeSH: D009085
  • GARD: 12562
  • MedDRA: 10028095

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