Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

myopathy, tubular aggregate, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, tubular aggregate, 1

MONDO:0024531

Also known as:STIM1 tubular aggregate myopathytubular aggregate myopathy caused by mutation in STIM1TAM1

Overview

Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.

GeneticsAutosomal dominant · STIM1 (chr 11)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration); and very common findings: Type 2 muscle fiber atrophy. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	12	Type 2 muscle fiber atrophy, Muscle stiffness, Myopathy

Genetic Landscape

STIM1 function has not been fully characterized.

Myopathy, tubular aggregate, 1 is associated with mutations in the STIM1 gene on chromosome 11.

Diagnosis

Genetic testing for STIM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, tubular aggregate, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myopathy, tubular aggregate, 1.

85 publications have been identified in PubMed for myopathy, tubular aggregate, 1. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (24%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Laboratory research	34	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:160565

Questions for Your Care Team

→Should I pursue genetic testing for STIM1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

myopathy, tubular aggregate, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, tubular aggregate, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications