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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
Hereditary Sensory Neuropathy (HSAN)
Alias:
Hereditary Sensory and Autonomic Neuropathy
Hereditary Sensory and Autonomic Neuropathies
Hsan
Neuropathy, Sensory and Autonomic, Hereditary
Cmt - [charcot-Marie-Tooth Disease]
Neuropathy, Sensory, Hereditary
Familial Dysautonomia, Type Ii
Sensory Neuropathy, Hereditary
Sensory Neuropathy Hereditary
Charcot-Marie-Tooth Disease
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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
遗传性感觉神经病,也称为遗传性感觉和自主神经病,与Charcot-Marie-Tooth病和聋哑和Charcot-Marie-Tooth病,轴突型2e有关。与遗传性感觉神经病有关的重要基因是SPTLC1(丝氨酸棕榈酰转移酶长链基团亚基1),其相关通路/超级通路包括神经科学和NTRKs的信号传导。在该疾病的背景下提到了叶酸和硫辛酸。附属组织包括舌和脊髓,相关表型包括生长/大小/身体区域和神经系统。
Related ID:
MALACARDS:HRD021
MESH:D009477
ICD11:1091217288
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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34
368
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HRD021
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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