Anterior Segment Dysgenesis 4 (ASGD4)

Alias:
Iridogoniodysgenesis Syndrome
Iridogoniodysgenesis, Type 2
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant
Iridogoniodysgenesis Type 2
Asgd4
Irid2
Igds
Ihga
Iridogoniodysgenesis Syndrome 2
Iridogoniodysgenesis, Type 1
Iridogoniodysgenesis Type 1
Irid 1
Irid 2
Igds2
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
前节发育不全4,又名虹膜-巩膜发育不全综合征,与前节发育不全3和间质性肉芽肿性关节炎有关。与前节发育不全4有关的重要基因是PITX2(配对同源域蛋白2),其相关通路/超通路包括蛋白质代谢和翻译后修饰:GPI锚定蛋白的合成。相关组织包括眼睛和骨髓,相关表型包括牙齿发育异常和青光眼。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
17
85
37

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!
微信
信息比对
科研助手
使用教程
回到顶部