progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
Definition from the Mondo Disease Ontology (MONDO:0024528), read 2026-09-29. CC BY 4.0.
- Onset and course
- Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- DiplopiaHPOHP:0000651
- 1 of 2 reported patients
- Hand tremorHPOHP:0002378
- 1 of 2 reported patients
- Neck flexor weaknessHPOHP:0003722
- 1 of 2 reported patients
- Slurred speechHPOHP:0001350
- 1 of 2 reported patients
- Total ophthalmoplegiaHPOHP:0007824
- 1 of 2 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.
- POLGHGNC:9179
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- Also called
- autosomal dominant progressive external ophthalmoplegia caused by mutation in POLGPEOA1POLG autosomal dominant progressive external ophthalmoplegiaprogressive external ophthalmoplegia, autosomal dominant 1