Mucolipidosis Iii Alpha/beta (MLIIIA)

Alias:

Pseudo-Hurler Polydystrophy

Mucolipidosis Iii

Mucolipidosis Type Iii

Mucolipidosis Iiia

Ml Iii Alpha/beta

Ml Iiia

Ml Iii

Mucolipidosis Type Iii Complementation Group a

Cariant Pseudo-Hurler Polydystrophy

Mucolipidosis, Type Iii, Alpha/beta

Mucolipidosis, Type Iii Alpha/beta

Mucolipidosis Type Iii Alpha/beta

Mucolipidosis Type 3 Alpha/beta

Mucolipidosis Iii, Variant

Mucolipidosis Type 3

Ml 3 Alpha/beta

Mliiia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

Related ID：

MALACARDS：MCL046

OMIM：252600