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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
非罕见病
Protein-Losing Enteropathy
Alias:
Protein-Losing Enteropathies
Ple - [protein-Losing Enteropathy]
Protein Losing Enteropathy
Enteropathy, Exudative
Exudative Enteropathy
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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
蛋白质丢失性肠病,也称为蛋白质丢失性肠病,与先天性腹泻7、渗出性肠病和先天性糖基化障碍,类型ib有关。与蛋白质丢失性肠病相关的重要基因是CD55(CD55分子(克罗默血型)),其相关通路/超级通路包括蛋白质代谢和向高尔基体的运输并随后进行修饰。在该疾病的背景下提到了补体系统蛋白质和纤溶酶原。附属组织包括小肠和心脏,相关表型为稳态/代谢和生长/大小/身体部位
Related ID:
MALACARDS:PRT019
MESH:D011504
ICD11:1821383469
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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22
208
2
PRT019
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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