Congenital Fibrosis of the Extraocular Muscles (FEOM)

Alias:
Congenital Fibrosis of Extraocular Muscles
Cfeom
Feom
Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome
General Fibrosis Syndrome
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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
先天性眼外肌纤维化,又称先天性眼外肌纤维化,与眼外肌纤维化、先天性、1和图克尔综合征有关,症状包括眼肌麻痹。先天性眼外肌纤维化相关的重要基因是TUBA1A(微管α1a),其相关通路/超级通路包括信号转导和神经系统发育。免疫因素和生长抑制剂已在该疾病的背景下被提及。附属组织包括眼睛和大脑,相关表型为上睑下垂和斜视。
Related ID:
MESH:C580012

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
1-9/1000000
46
298
23

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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