Mucopolysaccharidosis, Type Iiic (MPS3C)

Alias:

Mucopolysaccharidosis Type Iiic

Mps3c

Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency

Mucopolysaccharidosis Type 3c

Sanfilippo Syndrome Type C

Hgsnat Deficiency

Mpsiiic

Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency

Sanfilippo Syndrome C

Mps Iiic

Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency

Mucopolysaccharidosis, Mps-Iii-C

Mucopolysaccharidosis Iii

Mucopolysaccharidosis 3c

Mps Iii-C

Mps Iii C

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mucopolysaccharidosis, Type Iiic, also known as mucopolysaccharidosis type iiic, is related to retinitis pigmentosa 73 and kluver-bucy syndrome, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis, Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Lysine and Interleukin 1 Receptor Antagonist Protein have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are coarse facial features and intellectual disability

Related ID：

MALACARDS：MCP045

OMIM：252930

MESH：D009084