Proximal Spinal Muscular Atrophy (SMA)

Alias:
Sma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Proximal Spinal Muscular Atrophy, also known as sma, is related to spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant and autosomal dominant proximal spinal muscular atrophy. An important gene associated with Proximal Spinal Muscular Atrophy is SMNDC1 (Survival Motor Neuron Domain Containing 1). Affiliated tissues include spinal cord and brain, and related phenotypes are skeletal muscle atrophy and proximal muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
1
3
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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

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
Year
IF
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