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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Progressive Myoclonus Epilepsy 3 (EPM3)
Alias:
Cln14 Disease
Progressive Myoclonic Epilepsy Due to Kctd7 Deficiency
Progressive Myoclonus Epilepsy Type 3
Neuronal Ceroid Lipofuscinosis 14
Epilepsy, Progressive Myoclonic 3
Pme Type 3
Epm3
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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
进行性肌阵挛癫痫3,也称为cln14病,与癫痫、进行性肌阵挛癫痫3有关,伴有或不伴有细胞内包涵体和癫痫、特发性全面性5。与进行性肌阵挛癫痫3有关的重要基因是KCTD7(钾通道四聚体结构域包含7)。相关表型为神经系统和行为/神经病学。
Related ID:
MALACARDS:PRG142
MESH:C567095
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
14
75
--
PRG142
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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