Myopathy, Tubular Aggregate, 1 (TAM1)

Alias:
Tubular Aggregate Myopathy
Myopathy with Tubular Aggregates
Tam
Tubular Aggregate Myopathy 1
Tam1
Myopathy, Tubular Aggregates, Type 1
Myopathy, Tubular Aggregates
Myopathy, Tubular Aggregate
Myopathy Tubular Aggregates
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Tubular Aggregate, 1, also known as tubular aggregate myopathy, is related to immunodeficiency 10 and anhidrosis, and has symptoms including muscular stiffness and exercise-induced myalgia. An important gene associated with Myopathy, Tubular Aggregate, 1 is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways is Antigen activates B Cell Receptor (BCR) leading to generation of second messengers. Affiliated tissues include skeletal muscle and breast, and related phenotypes are emg: myopathic abnormalities and myalgia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
15
57
30

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
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IF
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