Mucolipidosis Iii Gamma (MLIIIC)

Alias:

Pseudo-Hurler Polydystrophy

Mucolipidosis Iiic

Ml Iii Gamma

Ml Iiic

Mucolipidosis Type Iii Complementation Group C

Mucolipidosis Iii, Complementation Group C

Mucolipidosis Iii, Iranian Variant Form

Variant Pseudo-Hurler Polydystrophy

Mucolipidosis Iii, Variant Form

Mucolipidosis, Type Iii, Gamma

Mucolipidosis Type Iii Gamma

Mucolipidosis Iii, Variant

Mucolipidosis Type 3 Gamma

Mucolipidosis Type Iii

Gnptg-Mucolipidosis

Mucolipidosis Iii

Ml 3 Gamma

Mliiic

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mucolipidosis Iii Gamma, also known as pseudo-hurler polydystrophy, is related to mucolipidosis and mucolipidosis iii alpha/beta, and has symptoms including stiff shoulders, thick skin and arthralgia. An important gene associated with Mucolipidosis Iii Gamma is GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma). Affiliated tissues include bone and eye, and related phenotypes are mucopolysacchariduria and scoliosis

Related ID：

MALACARDS：MCL016

OMIM：252605

MESH：C565367