oculopharyngodistal myopathy 2
MONDO:0030134Mondo
Findings
No curated finding names oculopharyngodistal myopathy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Bulbar palsyHPOHP:0001283
- 12 of 12 reported patients
- Distal muscle weaknessHPOHP:0002460
- 12 of 12 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 12 of 12 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 7 of 7 reported patients
- Increased endomysial connective tissueHPOHP:0100297
- 12 of 12 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 12 of 12 reported patients
- PtosisHPOHP:0000508
- 12 of 12 reported patients
- Rimmed vacuolesHPOHP:0003805
- 12 of 12 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 12 of 12 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 11 of 12 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 11 of 12 reported patients
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.
- GIPC1HGNC:1226
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: oculopharyngodistal myopathy 2
- Also called
- OPDM2