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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
Intrahepatic Cholestasis
Alias:
Neonatal Intrahepatic Cholestasis
Cholestasis, Intrahepatic
Cholestasis Intrahepatic
Cholestasis of Pregnancy
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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
新生儿肝内胆汁淤积症,也称为妊娠3期肝内胆汁淤积症和家族性肝内胆汁淤积症有关,症状包括黄疸、肝细胞黄疸和妊娠瘙痒。与新生儿肝内胆汁淤积症有关的重要基因是ABCB11(ATP结合盒家族B成员11),其相关通路/超级通路包括代谢和核受体元通路。在该疾病的背景下,已提到的药物有山梨醇和DL-α-生育酚。相关组织包括肝脏和胎盘,相关表型为shRNA丰度增加(Z-score>2)和稳态/代谢
Related ID:
MALACARDS:INT001
MESH:D002780
ICD11:2092047168
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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32
246
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INT001
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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