cataract 43
MONDO:0014565Mondo
Findings
No curated finding names cataract 43 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 UNC45B gene.
Definition from the Mondo Disease Ontology (MONDO:0014565), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
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 subcapsular cataractHPOHP:0007787
- 9 of 9 reported patients · Juvenile onset
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.
- UNC45BHGNC:14304
- Strong · G2P · Autosomal dominant · 2017
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: cataract 43
- Also called
- cataract type 43CTRCT43early-onset non-syndromic cataract caused by mutation in UNC45BUNC45B early-onset non-syndromic cataract