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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
Benign Chronic Pemphigus (BCPM)
Alias:
Hailey-Hailey Disease
Familial Benign Chronic Pemphigus
Pemphigus, Benign Familial
Familial Benign Pemphigus
Benign Chronic Familial Pemphigus of Hailey-Hailey
Benign Familial Pemphigus
Hhd
Pemphigus, Chronic, Benign
Bcpm
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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
良性慢性天疱疮,又称海利-海利病,与天疱疮和天疱疮有关。与良性慢性天疱疮相关的重要基因是ATP2C1(ATPase Secretory Pathway Ca2+ Transporting 1),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及心脏传导。在该疾病的背景下提到了乙酰胆碱和胆碱能药物。附属组织包括皮肤和骨骼,相关表型为角化过度和红斑。
Related ID:
MALACARDS:BNG091
OMIM:169600
MESH:D016506
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
22
116
21
BNG091
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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