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GENATLAS PHENOTYPE
last update : 26-06-2009
Symbol MPS3A
Location 17q25.3
Name mucopolysaccharidosis, type IIIA
Other name(s)
  • Sanfilippo disease type A
  • heparan sulfate sulfatase deficiency
    • Corresponding gene SGSH
    Other symbol(s) SPHM
    Main clinical features
  • characterized by severe central nervous system degeneration, but only mild somatic disease
  • severe central nervous system degeneration, but only mild somatic disease, onset of clinical features usually occurs between 2 and 6 years, severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life
  • radiologic findings in the skeleton relatively mild and including
    • persistent biconvexity of the vertebral bodies and very thick calvaria
    Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name sulfamidase deficiency (SGSH)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     at least 62 mutations mostly leading to severe phenotypes, each occuring at low frequencies
    Remark(s) . Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA is a potential therapeutic approach for Sanfilippo disease ( Dziedzic 2010)