tubular aggregate myopathy
Findings
No curated finding names tubular aggregate myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.
Definition from the Mondo Disease Ontology (MONDO:0008051), read 2026-09-29. CC BY 4.0.
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Fatigable weaknessHPOHP:0003473
- Very frequent (80% to 99% of cases)
- Fatiguable weakness of proximal limb musclesHPOHP:0030200
- Very frequent (80% to 99% of cases)
- Muscle fiber tubular inclusionsHPOHP:0100301
- Very frequent (80% to 99% of cases)
- Muscle spasmHPOHP:0003394
- Very frequent (80% to 99% of cases)
- MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ORAI1HGNC:25896
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- STIM1HGNC:11386
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- CASQ1HGNC:1512
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: tubular aggregate myopathy
- Also called
- myopathy, tubular aggregate, type 1