Autoinflammation with Infantile Enterocolitis (AIFEC)

Alias:
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome
Aifec
Nlrc4-Related Autoinflammatory Syndrome with Macrophage Activation Syndrome
Nlrc4-Related Infantile Enterocolitis-Autoinflammatory Syndrome
Nlrc4-Related Autoinflammatory Syndrome with Mas
Nlrc4-Related Macrophage Activation Syndrome
Nlrc4-Related Mas
Enterocolitis
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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
周期性发热-婴儿结肠炎-自体炎症综合征,也称为婴儿结肠炎-周期性发热-自体炎症综合征,与结肠炎和家族性冷自体炎症综合征4有关,症状包括关节痛、皮疹和肌肉痛。与周期性发热-婴儿结肠炎有关的重要基因是NLRC4(NLR家族CARD域包含4)。在该疾病的背景下,已经提到了头孢曲松和锌离子。附属组织包括骨髓和皮肤,相关表型为生长发育不良和脾肿大。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
14
8

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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