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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
Purpura Fulminans
Alias:
Purpura Gangrenosa
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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
坏死性紫癜,又称坏死性紫癜,与蛋白质C缺乏和蛋白质S缺乏有关。与坏死性紫癜有关的重要基因是PROC(蛋白质C,凝血因子V和VIIIa的抑制剂),其相关通路/超级通路包括蛋白质代谢和对血小板胞质内Ca2+升高的反应。在该疾病的背景下提到了蛋白质S和抗体。附属组织包括皮肤和肝脏,相关表型为痘病毒(VACV)感染的合成致死和稳态/代谢
Related ID:
MALACARDS:PRP034
MESH:D055665
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
113
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PRP034
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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