Periventricular Nodular Heterotopia 8 (PVNH8)

Alias:
Pvnh8
Periventricular Nodular Heterotopia, Type 8
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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
室周节结性异位症8,也称为pvnh8,与Charcot-Marie-Tooth病有关。与室周节结性异位症8相关的基因是ARF1(ADP核糖基化因子1)。相关组织包括大脑,相关表型为全球发育延迟和癫痫发作。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
5
1

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

Category
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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