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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
Purpura
Alias:
Purpuric Disorder
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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
紫癜,又称紫癜病,与血栓性血小板减少性紫癜和亨奇-舒林紫癜有关,症状包括脸红、咯血和黄疸。与紫癜相关的基因是ADAMTS13(ADAM金属肽酶与血友病因子类型1结构域13),其相关通路/超级通路包括TGF-β通路和Akt信号通路。在该疾病的背景下,提到了甘草酸和羟氯喹这两种药物。相关组织包括皮肤和骨髓,相关表型为稳态/代谢和神经系统。
Related ID:
MALACARDS:PRP030
MESH:D011693
ICD11:1332805370/other
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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30
352
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PRP030
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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