Microform Holoprosencephaly (HPE-L)

Alias:
Holoprosencephaly, Minor Form
Holoprosencephaly-Like
Hpe, Minor Form
Microform Hpe
Hpe-L
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
微表型全前脑发育不全,又称全前脑发育不全、轻度型,与全前脑发育不全9和低垂体功能低下有关。与微表型全前脑发育不全相关的重要基因是DISP1(Dispatched RND Transporter Family Member 1),其相关通路/超通路包括信号转导和神经系统发育。相关组织包括脑和垂体,相关表型包括鼻孔闭锁和鼻中隔狭窄。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
--
15
288
--

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