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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
Short Bowel Syndrome
Alias:
Short Gut Syndrome
Secondary Short Bowel Syndrome
Acquired Short Bowel Syndrome
Short Bowel Nos
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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
短肠综合症,也被称为短肠综合症,与先天性短肠综合症和肠伪梗阻有关,症状包括疼痛、术后和术后恶心呕吐。与短肠综合症有关的重要基因是CLMP(CXADR类似膜蛋白),其相关通路/超级通路包括G蛋白偶联受体下游信号通路和类A/1(视黄醇样受体)。在该疾病的背景下,已提到的药物有熊去氧胆酸和过氧化氢胺。附属组织包括小肠和结肠,相关表型为稳态/代谢和神经系统。
Related ID:
MALACARDS:SHR001
MESH:D012778
ICD11:780637678
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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26
242
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SHR001
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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