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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

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