Distal Hereditary Motor Neuronopathy Type 2b

Alias:
Neuronopathy, Distal Hereditary Motor, Type 2b
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal Hereditary Motor Neuropathy Type Iib
Distal Hereditary Motor Neuropathy Type 2b
Hmn Iib
Hmn2b
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Hereditary Motor Neuronopathy Type 2b, also known as neuronopathy, distal hereditary motor, type 2b, is related to neuronopathy, distal hereditary motor, autosomal dominant 3 and distal hereditary motor neuronopathy type 2c. An important gene associated with Distal Hereditary Motor Neuronopathy Type 2b is HSPB1 (Heat Shock Protein Family B (Small) Member 1), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Related phenotypes are peripheral neuropathy and distal lower limb muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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12
80
9

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
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No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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