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GENATLAS PHENOTYPE
last update : 06-02-2009
Symbol GNPTGD
Location 16p13.3
Name N-acetylglucosaminyl 1-phosphotransferase deficiency
Other name(s)
  • mucolipidosis 3, Iranian variant form
  • mucolipidosis type IIIC
  • mucolipidosis III, complementation group C
  • Corresponding gene GNPTG
    Other symbol(s) ML3C
    Main clinical features
  • pseudo-Hurler polydystrophy, mild phenotype
  • joint stiffness, dysostosis multiplex is similar to Hurler's disease, but facial dysmorphy is less severe, mild mental retardation, corneal clouding and deafness appearing as the disorder progresses
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name N-acetylglucosamine-1-phosphate transferase, gamma subunit
    Remark(s)