Distal Spinal Muscular Atrophy 2 (DHMNJ)

Alias:
Autosomal Recessive Distal Spinal Muscular Atrophy 2
Distal Hereditary Motor Neuropathy Jerash Type
Spinal Muscular Atrophy, Jerash Type
Spinal Muscular Atrophy Jerash Type
Dsma2
Dhmnj
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Spinal Muscular Atrophy 2, also known as autosomal recessive distal spinal muscular atrophy 2, is related to neuronopathy, distal hereditary motor, autosomal recessive 2 and distal hereditary motor neuronopathy type 2. An important gene associated with Distal Spinal Muscular Atrophy 2 is SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1).
Related ID:
MESH:C535715

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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7
31
14

Medical Symptom

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

Gene & Mutation

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Related Drugs

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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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