cataract 17 multiple types
Findings
No curated finding names cataract 17 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 CRYBB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012688), 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.
- Pulverulent cataractHPOHP:0010693
- 8 of 8 reported patients
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.
- CRYBB1HGNC:2397
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2024
- Moderate · Ambry Genetics · Semidominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: cataract 17 multiple types
- Also called
- CRYBB1 early-onset non-syndromic cataractCTRCT17early-onset non-syndromic cataract caused by mutation in CRYBB1