Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 (HMNR2)

Alias:
Distal Hereditary Motor Neuropathy, Jerash Type
Spinal Muscular Atrophy, Jerash Type
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2
Neuronopathy, Distal Hereditary Motor, Jerash Type
Neuropathy, Distal Hereditary Motor, Jerash Type
Dsma2
Dhmnj
Hmnj
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2
Neuropathy, Distal Hereditary Motor, Autosomal Recessive 2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Distal Spinal Muscular Atrophy, Autosomal Recessive, 2
Autosomal Recessive Distal Spinal Muscular Atrophy 2
Hereditary Motor Neuropathy, Jerash Type
Motor Neuropathy, Distal, Jerash Type
Hmnr2
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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
神经病,远端遗传性运动,常染色体隐性2型,也称为远端遗传性运动神经病,杰拉什型,与远端脊髓性肌萎缩2型和远端遗传性运动神经病2型有关。与神经病,远端遗传性运动,常染色体隐性2型有关的重要基因是SIGMAR1(Sigma非阿片类细胞内受体1)。相关表型是运动神经传导速度降低和远端肌肉无力。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
2
8
17

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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