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GENATLAS PHENOTYPE
last update : 14-05-2012
Symbol MPS7
Location 7q11.21
Name mucopolysaccharidosis, type VII
Other name(s)
  • beta-glucuronidase deficiency,
  • glucuronidase deficiency, Sly syndrome
    • Corresponding gene GUSB
    Other symbol(s) GUSB
    Main clinical features
  • mental retardation, short stature, 'coarse' facial appearance, cloudy cornea, hepatosplenomegaly, skeletal involvement and recurrent infections
  • increased excretion of urinary chondroitin sulfate A/C and decreased levels of beta-glucuronidase activity
  • hydrops fetalis is a common presentation of beta-glucuronidase deficiency
  • atypical morphology of the epithelial basement membrane and Bowman's layer, keratocytes are packed with cytoplasmic vacuoles containing abnormal glycosaminoglycan material, and collagen fibrils are thinner than in normal cornea (PMID:21743015))
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name glucuronidase, beta
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     more than 40 different mutations, most common mutation is L176F
    Remark(s)