cataract 31 multiple types
Findings
No curated finding names cataract 31 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 CHMP4B gene.
Definition from the Mondo Disease Ontology (MONDO:0011547), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant 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.
- Posterior subcapsular cataractHPOHP:0007787
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.
- CHMP4BHGNC:16171
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: cataract 31 multiple types
- Also called
- CHMP4B early-onset non-syndromic cataractCTRCT31early-onset non-syndromic cataract caused by mutation in CHMP4B