Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 (HMND5)

Alias:
Dhmn Va
Dhmn5a
Dsmava
Hmn5a
Dsmav
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance
Spinal Muscular Atrophy Distal with Upper Limb Predominance
Neuronopathy, Distal Hereditary Motor, Harding Type Va
Neuronopathy, Distal Hereditary Motor, Harding Type V
Neuropathy, Distal Hereditary Motor, Harding Type Va
Spinal Muscular Atrophy, Distal, Harding Type Va
Spinal Muscular Atrophy, Distal, Harding Type V
Neuronopathy, Distal Hereditary Motor, Type 5a
Neuropathy, Motor, Distal, Hereditary, Type Va
Distal Hereditary Motor Neuronopathy Type Va
Distal Hereditary Motor Neuropathy Type Va
Distal Hereditary Motor Neuropathy Type V
Neuronopathy, Distal Hereditary Motor, 5a
Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal Type V
Hmn 5a
Dhmn V
Dsma-V
Hmn Va
Hmnd5
Dhmn5
Hmn V
Hmn5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5, also known as dhmn va, is related to neuropathy and charcot-marie-tooth disease, axonal, type 2d. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 is GARS1 (Glycyl-TRNA Synthetase 1). The drugs Carbon Fiber and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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3
24
15

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

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

References Literature

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PMID
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IF
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