Mucopolysaccharidosis, Type Ii (MPS2)

粘多糖病II型(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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

I型黏多糖贮积症，也称为亨特氏综合症，与皮肤受累的黏多糖贮积症和黏多糖贮积症加综合征有关，症状包括腹泻、嘶哑和癫痫发作。与I型黏多糖贮积症相关的基因是IDS（Iduronate 2-Sulfatase），其相关通路/超级通路包括代谢和糖胺聚糖代谢。在该疾病的背景下，已提到的药物有利妥昔单抗和甲氨蝶呤。相关组织包括脊髓和皮肤，相关表型为巨脑和肌肉无力。

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