cataract 42
MONDO:0007283Mondo
Findings
No curated finding names cataract 42 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007283), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 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.
- CataractHPOHP:0000518
- 10 of 10 reported patients
- GlaucomaHPOHP:0000501
- Occasional (5% to 29% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
- 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.
- CRYBA2HGNC:2395
- Strong · G2P · Autosomal dominant · 2017
- Limited · Ambry Genetics · Semidominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
5 names
Resolves to: cataract 42
- Also called
- A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.cataract type 42CRYBA2 early-onset non-syndromic cataractCTRCT42early-onset non-syndromic cataract caused by mutation in CRYBA2