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GENATLAS PHENOTYPE
last update : 21-08-2009
Symbol MPS3D
Location 12q14
Name mucopolysaccharidosis, type IIID
Other name(s) SanFilippo syndrome D
Corresponding gene GNS
Main clinical features
  • mental retardation with characteristic behavioral disturbances, coarse facies and hirsutism and excessive excretion of heparan sulfate in the urine
  • in cultured skin fibroblasts, accumulated excessive amounts of heparan sulfate, unable to release sulfate from N-acetylglucosamine-6-sulfate linkages in heparan sulfate-derived oligosaccharides
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name N-acetylglucosamine-6-sulfate sulfatase (GNS)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)