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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
Episodic Kinesigenic Dyskinesia 1 (EKD1)
Alias:
Paroxysmal Kinesigenic Choreoathetosis
Paroxysmal Kinesigenic Dyskinesia
Familial Paroxysmal Kinesigenic Dyskinesia
Episodic Kinesigenic Dyskinesia
Dystonia 10
Paroxysmal Kinesigenic Choreathetosis
Familial Paroxysmal Dystonia
Familial Pkd
Dyt10
Ekd1
Pkc
Pkd
Dystonia, Familial Paroxysmal
Dystonia, Type 10
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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
阵发性运动诱发肌张力障碍1,也称为阵发性运动诱发舞蹈手足徐动症,与阵发性舞蹈手足徐动症和癫痫发作有关,良性家族性婴儿期2,并且有肌张力障碍和肌张力障碍,阵发性等症状。与阵发性运动诱发肌张力障碍1有关的重要基因是PRRT2(富含脯氨酸的跨膜蛋白2),其相关通路/超级通路包括G-βγ信号通路和多巴胺-DARPP32反馈到cAMP通路。附属组织包括大脑和苍白球,相关表型为舞蹈病和肌张力障碍。
Related ID:
MALACARDS:EPS030
OMIM:128200
MESH:D004421
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
婴儿期
1-9/1000000
26
205
82
EPS030
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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