Distal Hereditary Motor Neuronopathy Type 2 (HMN2)

Alias:
Distal Hereditary Motor Neuropathy, Type Ii
Distal Hereditary Motor Neuropathy Type 2
Distal Spinal Muscular Atrophy Type 2
Neuropathy, Motor, Distal, Hereditary, Type Ii
Distal Hereditary Motor Neuronopathy, Type Ii
Distal Hereditary Motor Neuropathy Type Ii
Spinal Muscular Atrophy, Jerash Type
Hmn Ii
Dsma2
Dhmn2
Hmn2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Hereditary Motor Neuronopathy Type 2, also known as distal hereditary motor neuropathy, type ii, is related to distal hereditary motor neuronopathy type 2b and distal hereditary motor neuronopathy type 2c. An important gene associated with Distal Hereditary Motor Neuronopathy Type 2 is FBXO38 (F-Box Protein 38), and among its related pathways/superpathways are Cellular response to heat stress and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Carbon Fiber and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotypes are homeostasis/metabolism and cellular
Related ID:
MESH:C580044

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
42
249
1

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

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PMID
Journal
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IF
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