cataract 45
MONDO:0014799Mondo
Findings
No curated finding names cataract 45 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 SIPA1L3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014799), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive 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.
- Developmental cataractHPOHP:0000519
- Congenital 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.
- SIPA1L3HGNC:23801
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Semidominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: cataract 45
- Also called
- cataract type 45CTRCT45early-onset non-syndromic cataract caused by mutation in SIPA1L3SIPA1L3 early-onset non-syndromic cataract