corneal dystrophy, Fuchs endothelial, 4
Findings
No curated finding names corneal dystrophy, Fuchs endothelial, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.
Definition from the Mondo Disease Ontology (MONDO:0013204), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Corneal guttataHPOHP:0012038
- 4 of 4 reported patients
- Corneal dystrophyHPOHP:0001131
- Visual impairmentHPOHP:0000505
- Late onset
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.
- SLC4A11HGNC:16438
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · Natera · Unknown · 2026
Where it sits
- A kind of
Other names
3 names
Resolves to: corneal dystrophy, Fuchs endothelial, 4
- Also called
- corneal dystrophy, Fuchs endothelial, type 4Fuchs' endothelial dystrophy caused by mutation in SLC4A11SLC4A11 Fuchs' endothelial dystrophy