Mucolipidosis Iii Alpha/beta (MLIIIA)

Mucolipidosis Iii Alpha/beta, also known as pseudo-hurler polydystrophy, is related to mucolipidosis iii gamma and tarsal tunnel syndrome, and has symptoms including stiff shoulders and thick skin. An important gene associated with Mucolipidosis Iii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of carbohydrate metabolism. Affiliated tissues include bone and heart, and related phenotypes are craniofacial hyperostosis and hypoplastic inferior ilia