oculopharyngodistal myopathy 1
MONDO:0020793Mondo
Findings
No curated finding names oculopharyngodistal myopathy 1 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
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
29 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.
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 3 of 3 reported patients
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- DysphoniaHPOHP:0001618
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- Muscle spasmHPOHP:0003394
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Myopathic faciesHPOHP:0002058
- 1 of 1 reported patient
- Respiratory distressHPOHP:0002098
- 1 of 1 reported patient
- Rimmed vacuolesHPOHP:0003805
- 13 of 13 reported patients
- PtosisHPOHP:0000508
- 52 of 53 reported patients
Show the remaining 17
- EMG: myopathic abnormalitiesHPOHP:0003458
- 18 of 19 reported patients
- OphthalmoparesisHPOHP:0000597
- 39 of 47 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 4 of 5 reported patients
- Distal muscle weaknessHPOHP:0002460
- 39 of 52 reported patients
- DysphagiaHPOHP:0002015
- 40 of 54 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 2 of 3 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.
- LRP12HGNC:31708
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Moderate · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: oculopharyngodistal myopathy 1
- Also called
- faciooculolaryngopharyngeal myopathy with distal and respiratory involvementOPDM1