Mucopolysaccharidosis Iii (MPS3)

Alias:

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Sanfilippo Disease

Mps Iii

Mpsiii

Mps3

N-Sulphoglucosamine Sulphohydrolase Deficiency

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis Type Iiia

Mucopolysaccharidosis, Mps-Iii

Sanfilippo's Syndrome

Sanfilippos Syndrome

Naglu Deficiency

Mps Iii B

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mucopolysaccharidosis Iii, also known as sanfilippo syndrome, is related to mucopolysaccharidosis, type iiic and mucopolysaccharidosis, type iiia, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis Iii 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 bone, and related phenotypes are chronic otitis media and delayed speech and language development

Related ID：

MALACARDS：MCP001

MESH：D009084