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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
Sting-Associated Vasculopathy with Onset in Infancy (SAVI)
Alias:
Savi
Sting-Associated Vasculopathy, Infantile-Onset
Sting-Associated Vasculopathy, Infantile Onset
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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
刺痛相关血管病发于婴儿期,也称为Savi,与单子胎梅特纳氏病和COVID-19有关,症状包括发热和指甲脱落。与刺痛相关血管病发于婴儿期有关的重要基因是STING1(干扰素刺激物CGAMP相互作用因子1),其相关通路/超级通路包括传染病和先天免疫系统。相关组织包括皮肤和肺,相关表型包括稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:STN011
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
婴儿期
<1/1000000
21
281
11
STN011
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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