Scheie Syndrome (MPS1S)

Scheie 综合征(来自ICD-11)

别称:

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis Type is

Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis I

Mucopolysaccharidosis Type 1s

Mucopolysaccharidosis Type V

Hurler-Scheie Syndrome

Mps1s

Mucopolysaccharidosis, Type I

Mucopolysaccharidosis is

Lipochondrodystrophy

Hurler Syndrome

Idua Deficiency

Mps I

Mpsis

Mpsi

Mps1

Mucopolysaccharidosis Type V, Formerly

Mps1 - [mucopolysaccharidosis Type 1]

Iduronidase Deficiency Disease

Mucopolysaccharidosis, Mps-I-S

Dysostosis Multiplex Syndrome

Mucopolysaccharidosis, Type 1

Mucopolysaccharidosis, Mps-I

Pfaundler-Hurler Syndrome

Mucopolysaccharidosis 1s

L-Iduronidase Deficiency

Mps I - Hurler Syndrome

Mucopolysaccharidosis V

Dysostosis Multiplex

Mps V, Formerly

Mps5, Formerly

Gargoylism

Mps I H-S

Mps I H

Mps I S

Mps1-S

Mps is

Mps-is

Mps V

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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

席-谢综合征，也被称为α-1-半乳糖苷酶缺乏症，与赫勒-席-谢综合征和黏多糖病IIα/β有关，症状包括关节僵硬和皮肤增厚。与席-谢综合征有关的重要基因是IDUA（α-1-半乳糖苷酶），其相关通路/超级通路包括传染病和代谢。在该疾病的背景下提到了免疫球蛋白和抗体。附属组织包括骨和脊髓，相关表型为脊柱侧凸和粗糙的面部特征。

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