Distal Hereditary Motor Neuronopathy Type 5 (HMN5)

Alias:
Young Adult-Onset Distal Hereditary Motor Neuropathy
Distal Hereditary Motor Neuropathy Type V
Distal Spinal Muscular Atrophy Type 5
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
Young Adult-Onset Dhmn
Distal Hmn V
Dhmn-V
Dsmav
Dsma5
Dhmn5
Spinal Muscular Atrophy, Distal, with Upper Limb Predominance
Distal Spinal Muscular Atrophy with Upper Limb Predominance
Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy, Type V
Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuropathy Type 5
Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V
Distal Spinal Muscular Atrophy Type V
Hmn V
Hmn5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Hereditary Motor Neuronopathy Type 5, also known as young adult-onset distal hereditary motor neuropathy, is related to distal hereditary motor neuronopathy type 5a and neuronopathy, distal hereditary motor, autosomal dominant 5. An important gene associated with Distal Hereditary Motor Neuronopathy Type 5 is DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2), and among its related pathways/superpathways are tRNA Aminoacylation 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 impaired vibratory sensation and distal lower limb muscle weakness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
41
232
16

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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