cataract 16 multiple types
Findings
No curated finding names cataract 16 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 CRYAB gene.
Definition from the Mondo Disease Ontology (MONDO:0013411), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 features
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 polar cataractHPOHP:0001115
- 16 of 16 reported patients · Congenital onset
- Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
- High myopiaHPOHP:0011003
- 0 of 16 reported patients
- LenticonusHPOHP:0001142
- 0 of 16 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.
- CRYABHGNC:2389
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · G2P · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: cataract 16 multiple types
- Also called
- CRYAB early-onset non-syndromic cataractCTRCT16early-onset non-syndromic cataract caused by mutation in CRYAB