Epidermolysis Bullosa Simplex Localized Type

Alias:
Epidermolysis Bullosa Simplex, Weber-Cockayne Type
Epidermolysis Bullosa Simplex of Palms and Soles
Localized Epidermolysis Bullosa Simplex
Localized Ebs
Ebs-Loc
Epidermolysis Bullosa Simplex Weber-Cockayne Type
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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
单纯性大疱性表皮松解症局部型,又称单纯性大疱性表皮松解症韦伯-考克尼型,与单纯性大疱性表皮松解症2c、局部型和单纯性大疱性表皮松解症1c、局部型有关。与单纯性大疱性表皮松解症局部型有关的重要基因是KRT14(角蛋白14),其相关通路/超级通路包括细胞连接组织和细胞骨架信号转导。在该疾病的背景下,已提到的药物有乙酰胆碱和普鲁卡因。附属组织包括皮肤,相关表型为瘙痒和皮肤异常起泡。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
10
71
28

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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