Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 (HMND1)

Alias:
Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, Harding Type I
Neuronopathy, Distal Hereditary Motor, Harding Type I
Neuropathy, Distal Hereditary Motor, Harding Type I
Neuronopathy, Distal Hereditary Motor, Type 1
Neuropathy, Motor, Distal, Hereditary, Type I
Charcot-Marie-Tooth Disease, Spinal, I
Hmnd1
Hmn I
Dhmn1
Hmn1
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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,常染色体显性1型,也被称为脊髓性肌萎缩,远端,青少年,常染色体显性,哈丁类型I,与远端遗传性运动神经元病1型、神经肌痛和常染色体隐性轴索性神经病有关。与神经病,远端遗传性运动,常染色体显性1型相关的基因是IGHMBP2(免疫球蛋白μDNA结合蛋白2)。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
7
8

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

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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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