Spinal Muscular Atrophy, Facioscapulohumeral Type

Alias:
Fshsma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spinal Muscular Atrophy, Facioscapulohumeral Type, is also known as fshsma. An important gene associated with Spinal Muscular Atrophy, Facioscapulohumeral Type is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and spinal muscular atrophy

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
5
4

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
Journal
Year
IF
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