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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
Leprosy 3 (LPRS3)
Alias:
Leprosy
Leprosy, Susceptibility to, 3
Infection Due to Mycobacterium Leprae
Leprosy, Susceptibility to
Hansen's Disease
Hansen Disease
Maculoanaesthetic Leprosy
Anaesthesia Leprosy
Anaesthetic Leprosy
Leprosy Unspecified
Leprosy, Type 3
Macular Leprosy
Lprs3
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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
麻风病3,又称麻风病,与边缘麻风病和不定麻风病有关,症状包括皮肤病变、感觉丧失和运动丧失。与麻风病3有关的重要基因是TLR2(Toll样受体2),其相关通路/超级通路包括先天免疫系统和Akt信号通路。在该疾病的背景下提到了Clofazimine和Dapsone这两种药物。附属组织包括皮肤和脊髓,相关表型为周围神经病变和自主神经系统生理异常。
Related ID:
MALACARDS:LPR021
OMIM:246300
MESH:D007918
ICD11:149072669
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
1-9/100000
66
690
6
LPR021
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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