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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
Systemic Scleroderma
Alias:
Scleroderma
Progressive Systemic Sclerosis
Systemic Sclerosis
Scleroderma, Familial Progressive
Familial Progressive Scleroderma
Progressive Scleroderma
Scleroderma, Systemic
Scleroderma Syndrome
Diffuse Scleroderma
Scleroderma Disease
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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
系统性硬化症,也称为硬皮病,与硬皮病、家族性进行性硬皮病和局限性硬皮病有关,症状包括皮疹、瘙痒和皮肤紧绷。与系统性硬化症有关的重要基因是TSIX(TSIX转录本,XIST反义RNA),其相关通路/超通路包括补体通路和癌症中的衰老和自噬。在该疾病的背景下提到了药物阿米布森坦和他达拉非。附属组织包括皮肤和肺,相关表型是稳态/代谢和心血管系统。
Related ID:
MALACARDS:SYS005
MESH:D012595
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
1-9/100000
45
536
3
SYS005
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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