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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
Infant Botulism
Alias:
Infant Intestinal Toxin-Mediated Botulism
Infant Intestinal Toxemia Botulism
Infant Intestinal Botulism
Botulism, Infantile
Infantile Botulism
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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
婴儿型肉毒中毒,又称婴儿肠道毒素介导型肉毒中毒,与肠道型肉毒中毒和食源性肉毒中毒有关,症状包括便秘、嗜睡和喂养困难。与婴儿型肉毒中毒有关的重要基因是DENND11(DENN域含11),其相关通路/超级通路包括传染性疾病和囊泡介导的运输。在该疾病的背景下提到了免疫因子和γ-球蛋白。相关组织包括眼和乳腺,相关表型为上睑下垂和复视。
Related ID:
MALACARDS:INF006
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
1-9/1000000
13
85
--
INF006
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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