Wilson Disease (WND)

Wilson Disease(来自ICD-11)
别称:
Hepatolenticular Degeneration
Wilson's Disease
Wd
Westphal-Strumpell Syndrome
Copper Storage Disease
Progressive Hepatolenticular Degeneration
Hepatolenticular Degeneration Syndrome
Lenticular Degenerative Disease
Hepatocerebral Degeneration
Neurohepatic Degeneration
Cerebral Pseudosclerosis
Westphal Pseudosclerosis
Kinnier-Wilson Disease
Lenticular Syndrome
Wilson's Syndrome
Copper Retention
Wnd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Wilson Disease, also known as hepatolenticular degeneration, is related to liver disease and disorder of copper metabolism, and has symptoms including abdominal pain, back pain and constipation. An important gene associated with Wilson Disease is ATP7B (ATPase Copper Transporting Beta), and among its related pathways/superpathways are Detoxification of Reactive Oxygen Species and Amyotrophic lateral sclerosis (ALS). The drugs Zinc cation and Copper have been mentioned in the context of this disorder. Affiliated tissues include Liver and eye, and related phenotypes are intellectual disability and failure to thrive
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相关ID:
MESH:D006527
ICD11:468161208

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
1-9/100000
49
745
514

疾病表征

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靶点药物

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临床阶段
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疾病模型

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MGI
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文献报道

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