cataract 33
MONDO:0012665Mondo
Findings
No curated finding names cataract 33 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 BFSP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012665), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood 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.
- Cortical cataractHPOHP:0100019
- 3 of 3 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.
- BFSP1HGNC:1040
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal recessive · 2021
- Strong · G2P · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: cataract 33
- Also called
- BFSP1 early-onset non-syndromic cataractcataract type 33CTRCT33early-onset non-syndromic cataract caused by mutation in BFSP1