keratoconus 1
MONDO:0007851Mondo
Findings
No curated finding names keratoconus 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007851), 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.
- KeratoconusHPOHP:0000563
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.
- HGNC:12723HGNC:12723
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
3 names
Resolves to: keratoconus 1
- Also called
- keratoconus (disease) caused by mutation in VSX1keratoconus type 1VSX1 keratoconus (disease)