Hurler Syndrome (MPS1H)

Hurler Syndrome(来自ICD-11)
别称:
Mucopolysaccharidosis Type Ih
Mucopolysaccharidosis Ih
Mps1h
Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type 1h
Hurler Disease
Mps1-H
Mpsih
Mucopolysaccharidosis Type I Severe Form
L-Iduronidase Deficiency, Hurler Type
Dysostosis Multiplex Syndrome
Hurler Disease Mps Type 1h
Hurler-Pfaundler Syndrome
Pfaundler-Hurler Syndrome
Mucopolysaccharidosis 1h
Mucopolysaccharidosis I
Dysostosis Multiplex
Hurler's Syndrome
Gargoylism
Mps Ih
Mps-Ih
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hurler Syndrome, also known as mucopolysaccharidosis type ih, is related to mucolipidosis iii gamma and glycoproteinosis, and has symptoms including joint stiffness An important gene associated with Hurler Syndrome is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and frontal bossing
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Newborn
<1/1000000
23
142
222

疾病表征

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基因 & 突变

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靶点药物

药物名称
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临床阶段
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疾病模型

类型
名称
MGI
相关基因
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文献数量
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文献报道

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IF
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