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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
Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy
Alias:
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2
Ar-Cmt2
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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
常染色体隐性轴索遗传性运动和感觉神经病,又称常染色体隐性轴索Charcot-Marie-Tooth病2型,与多发性神经病、新生儿致死性、轴索感觉运动、常染色体隐性神经病和远端遗传性运动、常染色体隐性5有关。与常染色体隐性轴索遗传性运动和感觉神经病有关的重要基因是LMNA(Lamin A/C)。
Related ID:
MALACARDS:ATS452
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
39
7
ATS452
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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