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GENATLAS PHENOTYPE
last update : 14-11-2012
Symbol MPS1
Location 4p16.3
Name mucopolysaccharidosis, type I
Other name(s)
  • alpha-L-iduronidase deficiency
  • IDUA deficiency
  • mucopolysaccharidosis type IH/S
    • Corresponding gene IDUA
    related resource Mucopolysaccharidosis
    Other symbol(s) MPS I H, MPS I H/S, MPS I S
    Main clinical features
  • severe form: coarse facial features, macrocephaly, prominent forehead, enlarged tongue, hepatosplenomegaly, progressive skeletal dysplasia (dysostosis multiplex), short stature, corneal clouding, hearing loss, progressive and profound mental retardation, death by cardiorespiratory failure within the first decade
  • great variability observed in intermediate and mild MPS I phenotypes
  • early in childhood, presenting with dysostosis multiplex, cardiac and respiratory insufficiency, progressive neurological degeneration, and a severely shortened lifespan (PMID: 21873421))
    • Genetic determination autosomal recessive
    Prevalence ~1/100 000 for the severe form
    Related entries includes : . Hurler syndrome (MIM 607014, severe MPSI) . Hurler-Scheie syndrome (MIM 607015, intermediate MPSI) . Scheie syndrome (MIM 607016, mild MPSI)
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name enzyme, iduronidase, alpha-L (IDUA), glycosidase intervening during lysosomal degradation of glycosaminoglycans
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     most missense mutations lead to mild-intermediate MPS I phenotype
    Remark(s) glycosaminoglycan (heparan and dermatan sulfate) storage
    Genotype/Phenotype correlations large structural changes had occurred in the core region in the severe MPS I group and small ones on the molecular surface in the attenuated MPS I group (PMID: 18340403))