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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Wilson Disease (WND)
Alias:
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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
威尔逊病,又称肝脑退化症,与肝脏疾病和铜代谢紊乱有关,症状包括腹痛、背痛和便秘。与威尔逊病有关的重要基因是ATP7B(ATPase Copper Transporting Beta),其相关通路/超通路包括活性氧物种解毒和肌萎缩侧索硬化症(ALS)。在该疾病的背景下提到了锌离子和铜。附属组织包括肝脏和眼睛,相关表型为智力障碍和发育不良。
Related ID:
MALACARDS:WLS001
OMIM:277900
MESH:D006527
ICD11:468161208
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
1-9/100000
49
741
514
WLS001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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