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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
Atrioventricular Septal Defect (AVSD)
Alias:
Atrioventricular Canal Defect
Avsd
Endocardial Cushion Defect
Avc Defect
Avcd
Ecd
Intermediate Atrioventricular Septal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valvar Orifices
Transitional Atrioventricular Septal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valves
Intermediate Atrioventricular Canal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valve
Atrioventricular Septal Defect with Atrial Shunting and Restrictive Ventricular Shunting
Atrioventricular Canal Defect Associated with a Restrictive Ventricular Septal Defect
Incomplete Atrioventricular Septal Defect with Isolated Atrial Component
Incomplete Atrioventricular Canal Defect with Isolated Atrial Component
Complete Atrioventricular Canal with Atrial and Ventricular Components
Atrioventricular Canal Defect with Isolated Ventricular Communication
Partial Atrioventricular Canal Defect with Isolated Atrial Component
Atrioventricular Septal Defect with Isolated Ventricular Component
Atrioventricular Canal Defect with Isolated Ventricular Component
Partial Atrioventricular Septal Defect, Ostium Primum Type
Atrioventricular Septal Defect, Susceptibility to, 1
Atrioventricular Defect with Atrial Shunting Only
Intermediate Atrioventricular Septal Defect
Transitional Atrioventricular Septal Defect
Intermediate Atrioventricular Canal Defect
Transitional Atrioventricular Canal Defect
Complete Atrioventricular Septal Defect
Complete Atrioventricular Canal Defect
Partial Atrioventricular Septal Defect
Partial Atrioventricular Canal Defect
Ostium Primum Atrial Septal Defect
Atrioventricular Septal Defect 1
Septal Defect, Atrioventricular
Endocardial Cushion Defects
Primum Atrial Septal Defect
Atrial Septum Primum Defect
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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
心室间隔缺损,又称为心室间隔缺损,与先天性心脏病、多种类型、4和右心房异构性有关。与心室间隔缺损相关的重要基因是SMARCAL1(SWI/SNF相关、矩阵相关、肌动蛋白依赖性染色质调节因子亚家族A类似1),其相关通路/超级通路包括神经系统发育和人胚胎干细胞多能性。在该疾病的背景下,已提到的药物有苯佐卡因和依那普利。附属组织包括心脏和肺,相关表型为生长/大小/身体区域和稳态/新陈代谢。
Related ID:
MALACARDS:ATR001
OMIM:606215
MESH:D004694
ICD11:1159570489
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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44
554
17
ATR001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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References Literature
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