corneal dystrophy, Fuchs endothelial, 8
Findings
No curated finding names corneal dystrophy, Fuchs endothelial, 8 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 AGBL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014228), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
2 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
- 12 of 12 reported patients
- Corneal dystrophyHPOHP:0001131
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:26504HGNC:26504
- Limited · G2P · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: corneal dystrophy, Fuchs endothelial, 8
- Also called
- AGBL1 Fuchs' endothelial dystrophycorneal dystrophy, Fuchs endothelial, type 8Fuchs' endothelial dystrophy caused by mutation in AGBL1