Esophageal Atresia (CEA)

Alias:
Oesophageal Atresia
Esophageal Atresia with or Without Trachea-Esophageal Fistula
Congenital Imperforate Esophagus
Congenital Atresia of Esophagus
Congenital Esophageal Atresia
Imperforate Esophagus
Ea/tef
Cea
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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
食管闭锁,也称为食管闭锁,与Vater/VACTERL协会和小眼症,综合症3有关。与食管闭锁有关的重要基因是TENT5A(末端核苷转移酶5A),其相关通路/超级通路包括胚层化和 Hedgehog 信号传导。在该疾病的背景下提到了奥美拉唑和胃肠药物。附属组织包括气管和肺,相关表型为气管食管瘘和吞咽困难。
Related ID:
MESH:D004933

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
1-9/100000
27
340
--

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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