myopathy, tubular aggregate, 2
Findings
No curated finding names myopathy, tubular aggregate, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014383), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Ankle flexion contractureHPOHP:0006466
- 5 of 5 reported patients
- HypocalcemiaHPOHP:0002901
- 5 of 5 reported patients
- MiosisHPOHP:0000616
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Spinal rigidityHPOHP:0003306
- 6 of 6 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 6 reported patients
- Generalized muscle weaknessHPOHP:0003324
Genes
1 gene
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: myopathy, tubular aggregate, 2
- Also called
- myopathy, tubular aggregate, type 2ORAI1 tubular aggregate myopathytubular aggregate myopathy caused by mutation in ORAI1