Distal Spinal Muscular Atrophy 2 (DHMNJ)

Alias:
Autosomal Recessive Distal Spinal Muscular Atrophy 2
Distal Hereditary Motor Neuropathy Jerash Type
Spinal Muscular Atrophy, Jerash Type
Spinal Muscular Atrophy Jerash Type
Dsma2
Dhmnj
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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
远端脊髓性肌萎缩2,也称为常染色体隐性远端脊髓性肌萎缩2,与神经病、常染色体隐性远端遗传性运动、常染色体隐性远端遗传性运动神经元病2有关。与远端脊髓性肌萎缩2有关的重要基因是SIGMAR1(Sigma非阿片类细胞内受体1)。
Related ID:
MESH:C535715

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
31
14

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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