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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
非罕见病
Chronic Tic Disorder
Alias:
Chronic Motor or Vocal Tic Disorder
Tic Disorders
Tic Disorder Nos
Tic Spasm Nos
Tic Disorder
Tic Nos
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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
慢性抽动障碍,也称为慢性运动或发声抽动障碍,与短暂抽动障碍和强迫症有关,症状包括反复的肌肉抽搐(症状)。与慢性抽动障碍相关的重要基因是SLITRK1(SLIT和NTRK类似家族成员1),其相关通路/超级通路包括突触的蛋白质-蛋白质相互作用和甲基苯丙胺通路,药理学。在该疾病的背景下提到了阿莫西林和左乙拉西坦。附属组织包括大脑和苍白球,相关表型是神经系统和生长/大小/身体区域。
Related ID:
MALACARDS:CHR056
MESH:D013981
ICD11:1894671574
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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17
139
--
CHR056
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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