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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
Churg-Strauss Syndrome (EGPA)
Alias:
Eosinophilic Granulomatosis with Polyangiitis
Granulomatous Allergic Angiitis
Allergic Granulomatous Angiitis
Churg-Strauss Vasculitis
Egpa
Allergic Granulomatosis Angiitis
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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
Churg-Strauss 综合征,又称嗜酸性粒细胞性多血管炎,与血管炎和多动脉炎有关,症状包括哮喘。与 Churg-Strauss 综合征相关的重要基因是 PRTN3 (Proteinase 3),其相关通路/超级通路包括 MIF 介导的皮质类固醇调节和 Akt 信号通路。在该疾病的背景下,已经提到了环磷酰胺和阿扎胞苷。附属组织包括肺和心脏,相关表型包括鼻窦炎和充血性心力衰竭。
Related ID:
MALACARDS:CHR001
MESH:D015267
ICD11:835880885
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
青少年
1-9/100000
20
212
--
CHR001
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
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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
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IF
No Data Found!
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