Lobar Holoprosencephaly

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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
额叶全前脑畸形与唇裂和室间隔缺损有关。额叶全前脑畸形相关的重要基因是PTCH1(Patched 1),其相关通路/超通路包括神经系统发育和信号转导。相关组织包括大脑和嗅球,相关表型包括眼距过窄和喂养困难。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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16
267
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Medical Symptom

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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

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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