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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
Encephalopathy, Acute, Infection-Induced 4 (IIAE4)
Alias:
Encephalopathy, Acute, Infection-Induced, Susceptibility to, 4
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility to
Acute Necrotizing Encephalopathy of Childhood
Encephalopathy, Acute, Infection-Induced, 4
Iiae4
Isolated Acute Necrotizing Encephalopathy
Encephalopathy Acute Infection-Induced 4
Isolated Ane
Anec
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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
急性感染诱导脑病4,也称为急性感染诱导易感性4,与急性感染诱导脑炎12和病毒感染性疾病有关。与急性感染诱导脑病4相关的基因是CPT2(肉碱棕榈酰转移酶2)。相关组织包括大脑和小脑,相关表型为癫痫和发热。
Related ID:
MALACARDS:ENC056
OMIM:614212
MESH:D018792
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
2
13
5
ENC056
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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