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GENATLAS PHENOTYPE
last update : 21/08/2006
Symbol MSD
Location 3p26
Name multiple sulfatase deficiency
Other name(s)
  • mucosulfatidosis . sulfatidosis, juvenile, Austin type
  • Corresponding gene SUMF1
    Other symbol(s) MSUD
    Main clinical features
  • with 'gargoylism', neurologic deterioration, both mucopolysaccharide and sulfatide are found in the urine in excess, cerebrospinal fluid protein is increased, peripheral nerves show metachromatic degeneration of myelin on biopsy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    neurology
    Type disease
    Gene product
    Name sulfatase modifying factor 1