cataract 11 multiple types
Findings
No curated finding names cataract 11 multiple types 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 PITX3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012527), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
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
- 2 of 2 reported patients · 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.
- PITX3HGNC:9006
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: cataract 11 multiple types
- Also called
- cataract 11, syndromic, autosomal recessiveCTRCT11early-onset non-syndromic cataract caused by mutation in PITX3PITX3 early-onset non-syndromic cataract