cataract 6 multiple types
MONDO:0007288Mondo
Findings
No curated finding names cataract 6 multiple types yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007288), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Posterior polar cataractHPOHP:0001115
- 12 of 12 reported patients
- Developmental cataractHPOHP:0000519
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.
- EPHA2HGNC:3386
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: cataract 6 multiple types
- Also called
- cataract (disease) caused by mutation in EPHA2CTRCT6EPHA2 cataract (disease)