cataract 21 multiple types
Findings
No curated finding names cataract 21 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 MAF gene.
Definition from the Mondo Disease Ontology (MONDO:0012437), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Juvenile onset
HPO, annotations 2026-09-02
Features
6 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.
- Cortical pulverulent cataractHPOHP:0007780
- 7 of 10 reported patients · Juvenile onset
- MicrocorneaHPOHP:0000482
- 2 of 10 reported patients
- Corneal opacityHPOHP:0007957
- 1 of 10 reported patients
- High myopiaHPOHP:0011003
- 1 of 10 reported patients
- Iris colobomaHPOHP:0000612
- 1 of 10 reported patients
- Peters anomalyHPOHP:0000659
- 1 of 10 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.
- MAFHGNC:6776
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: cataract 21 multiple types
- Also called
- CTRCT21early-onset non-syndromic cataract caused by mutation in MAFMAF early-onset non-syndromic cataract