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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
Eisenmenger Syndrome
Alias:
Eisenmenger Complex
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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
艾森曼格综合症,又名艾森曼格复合症,与房间隔缺损和肺动脉高压有关。与艾森曼格综合症有关的重要基因是THBD(血栓调节蛋白),其相关通路/超通路包括细胞质钙离子升高的反应和血液凝固疾病。在该疾病的背景下,已经提到了药物波生坦和内皮素受体拮抗剂。附属组织包括心脏和皮肤,相关表型为肺动脉高压和异常心脏形态。
Related ID:
MALACARDS:ESN011
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
1-9/1000000
3
41
--
ESN011
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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