Mucopolysaccharidosis Iii (MPS3)

Mucopolysaccharidosis Iii(来自ICD-11)
别称:
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
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相关ID:
MESH:D009084

基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
Child
1-9/1000000
49
364
64

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靶点药物

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MGI
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