Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
罕见病
Cryopyrin-Associated Periodic Syndrome (CAPS)
Alias:
Cryopyrin-Associated Periodic Syndromes
Cryopyrinopathy
Caps
Nlrp3-Associated Systemic Autoinflammatory Disease
Caps - [cryopyrin-Associated Periodic Syndromes]
Nlrp3-Associated Autoinflammatory Disease
Cryopyrin Associated Periodic Syndrome
Cryopyrinopathies
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
周期性冷球蛋白血症,又名冷球蛋白血症,与辛卡综合征和家族性冷自身炎症综合征有关。与周期性冷球蛋白血症相关的基因是NLRP3(NLR家族Pyrin域含3),其相关通路/超级通路包括TLR信号通路和IL1和肥胖巨核细胞。在该疾病的背景下提到了纤溶酶原和阿布瑞森坦。附属组织包括皮肤和脊髓,相关表型是shRNA丰度增加(Z分数> 2)。
Related ID:
MALACARDS:CRY008
ICD11:2139918612
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
1-9/1000000
2
51
74
CRY008
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!
微信
信息比对
科研助手
使用教程
回到顶部