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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
Chylothorax, Congenital
Alias:
Congenital Chylothorax
Hydrothorax, Congenital
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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
鞘膜积液,先天性,又称先天性鞘膜积液,与 Noonan 综合征 5 和动静脉畸形有关。与先天性鞘膜积液相关的基因是 SST(生长抑素),其相关通路/超级通路包括磷脂酶-C通路和 PI3K-Akt 信号通路。附属组织包括肺和乳腺,相关表型为正常和稳态/新陈代谢。
Related ID:
MALACARDS:CHY005
OMIM:603523
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
1-9/100000
11
123
5
CHY005
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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