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
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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
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:
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

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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