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GENATLAS PHENOTYPE
last update : 26-04-2012
Symbol MPS2
Location Xq28
Name mucopolysaccharidosis, type II
Other name(s)
  • Hunter syndrome
  • iduronate 2-sulfatase deficiency
  • sulfoiduronate sulfatase deficiency
    • Corresponding gene IDS
    Main clinical features onset by 2 to 4 years :
  • coarsening of facial features
  • gradual decline in growth rate, mental and neurologic deterioration,
  • joints stiffs and contractures, progressive deafness, hypertrichosis, hoarse voice , organomegaly and other complications
    • Genetic determination sex linked
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name lysosomal enzyme iduronate 2-sulfatase (IDS)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
        abnormal protein/loss of function mutational heterogeneity with missence mutations, small deletions, insertions, splicing mutations and exonic deletions
    other     gene disruption by a paracentric inversion between IDS and its pseudogene
      deletion   complete deletion of IDS, FRAXA, and FRAXE contiguous genes
    Remark(s)
  • lysosomal storage disorder
  • C84T mutation produced a small amount of mature forms but also abolished enzyme activity, confirming that the cysteine residue at position 84 is required for IDS activity (PMID: 9337875)
    • Genotype/Phenotype correlations a mild and severe type have been delineated; a complete deletion of IDS, FRAXA, and FRAXE contiguous genes may be present in the ones presenting the severe form PMID: 22492741;;