optic atrophy 3
MONDO:0008133Mondo
Findings
No curated finding names optic atrophy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
40 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.
- Optic atrophyHPOHP:0000648
- 24 of 24 reported patients
- Very frequent (80% to 99% of cases)
- ScotomaHPOHP:0000575
- 9 of 9 reported patients
- Visual impairmentHPOHP:0000505
- Obligate (100% of cases)
- CataractHPOHP:0000518
- 37 of 45 reported patients
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
- Optic disc pallorHPOHP:0000543
- 11 of 14 reported patients
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Areflexia of lower limbsHPOHP:0002522
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Central scotomaHPOHP:0000603
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
Show the remaining 28
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- PainHPOHP:0012531
- Frequent (30% to 79% of cases)
- ParesthesiaHPOHP:0003401
- Frequent (30% to 79% of cases)
- Posterior cortical cataractHPOHP:0010924
- Frequent (30% to 79% of cases)
- Postural tremorHPOHP:0002174
- Frequent (30% to 79% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Frequent (30% to 79% of cases)
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.
- OPA3HGNC:8142
- Definitive · G2P · Autosomal dominant · 2019
- Definitive · Natera · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: optic atrophy 3
- Also called
- autosomal dominant optic atrophy type 3OPA3, autosomal dominant