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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
Narcolepsy
Alias:
Narcoleptic Syndrome
Gelineau Syndrome
Paroxysmal Sleep
Narcolepsy with or Without Cataplexy
Narcolepsy, Without Cataplexy
Narcolepsy-Cataplexy Syndrome
Narcolepsy 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
嗜睡症,又称为嗜睡症综合症,与嗜睡症1型和嗜睡症2型有关,症状包括偏瘫、睡眠障碍和打鼾。与嗜睡症有关的重要基因是HCRT(Hypocretin Neuropeptide Precursor),其相关通路/超级通路包括Orexin受体通路和脂肪生成中转录因子调节。在该疾病的背景下提到了Sodium oxybate和Anesthetics药物。附属组织包括大脑和眼睛。
Related ID:
MALACARDS:NRC002
MESH:D009290
ICD11:1201727099
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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74
862
1
NRC002
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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