Mucopolysaccharidosis, Type Ii (MPS2)

Mucopolysaccharidosis, Type Ii(来自ICD-11)
别称:
Hunter Syndrome
Iduronate 2-Sulfatase Deficiency
Mucopolysaccharidosis Ii
Mucopolysaccharidosis Type Ii
Mps Ii
Mps2
Sulfoiduronate Sulfatase Deficiency
Mucopolysaccharidosis, Mps-Ii
Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type 2, Severe Form
Sids Deficiency
Ids Deficiency
Mpsii
Mucopolysaccharidosis Type Ii, Attenuated Form
Mucopolysaccharidosis Type 2, Attenuated Form
Mucopolysaccharidosis Type Ii, Severe Form
Iduronate 2-Sulfatase Deficiency Type B
Iduronate 2-Sulfatase Deficiency Type a
Sulphoiduronidate Sulphatase Deficiency
Sulpho-Iduronate Sulphatase Deficiency
Sulfoiduronidate Sulfatase Deficiency
Deficiency of Iduronate-2-Sulphatase
Sulfo-Iduronate Sulfatase Deficiency
Iduronate 2-Sulphatase Deficiency
Iduronate-2-Sulfatase Deficiency
Mps2 - [mucopolysaccharidosis 2]
Iduronate Sulphatase Deficiency
Mucopolysaccharidosis Type Iib
Mucopolysaccharidosis Type Iia
Iduronate Sulfatase Deficiency
Mucopolysaccharidosis Type 2b
Mucopolysaccharidosis Type 2a
Mps Ii - Hunter Syndrome
Mucopolysaccharidosis 2
Hunter Syndrome Type B
Hunter Syndrome Type a
Hunter's Syndrome
Hunters Syndrome
I2s Deficiency
Mpsiib
Mpsiia
Mps2b
Mps2a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Mucopolysaccharidosis, Type Ii, also known as hunter syndrome, is related to mucopolysaccharidosis with skin involvement and mucopolysaccharidosis-plus syndrome, and has symptoms including diarrhea, hoarseness and seizures. An important gene associated with Mucopolysaccharidosis, Type Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Rituximab and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin, and related phenotypes are macrocephaly and muscle weakness
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相关ID:
MESH:D016532
ICD11:1056274204

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
XL
XLD
Child
1-9/1000000
32
245
224

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