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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
Pemphigus Foliaceus
Alias:
Superficial Pemphigus
Pemphigus Foliaceous
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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
Pemphigus Foliaceus,又称为表皮性天疱疮,与红斑性天疱疮和疱疹性脓疱疮有关。与Pemphigus Foliaceus相关的基因是DSG1(Desmoglein 1),其相关通路/超级通路包括ERK信号通路和先天免疫系统。在该疾病的背景下,已提到药物泼尼松和糖皮质激素。附属组织包括皮肤和T细胞,相关表型为自身免疫和棘层松解。
Related ID:
MALACARDS:PMP004
MESH:D010392
ICD11:24246260
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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20
342
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PMP004
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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