Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 (HMND12)

Alias:
Dhmn Vb
Hmn Vb
Dhmn5b
Dsmavb
Hmn5b
Neuronopathy, Distal Hereditary Motor, Harding Type Vb
Neuropathy, Distal Hereditary Motor, Harding Type Vb
Spinal Muscular Atrophy, Distal, Harding Type Vb
Neuronopathy, Distal Hereditary Motor, Type 5b
Neuropathy, Motor, Distal, Hereditary, Type Vb
Distal Hereditary Motor Neuropathy Type Vb
Neuronopathy, Distal Hereditary Motor, 5b
Spinal Muscular Atrophy Distal Type Vb
Hmnd12
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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12,也被称为dhmn vb,与远端遗传性运动神经病5b和常染色体显性脊髓性肌萎缩症17有关。与神经病,远端遗传性运动,常染色体显性12相关的基因是REEP1(受体辅助蛋白1)。相关组织包括脊髓。
Related ID:

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
4
1

Medical Symptom

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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

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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Journal
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IF
No Data Found!
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