cataract 49
MONDO:0030465Mondo
Findings
No curated finding names cataract 49 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 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 cortical cataractHPOHP:0010924
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- NystagmusHPOHP:0000639
- 4 of 6 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.
- PANK4HGNC:19366
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: cataract 49
- Also called
- CTRCT49