anterior segment dysgenesis 3
Findings
No curated finding names anterior segment dysgenesis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)
Definition from the Mondo Disease Ontology (MONDO:0024456), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Young adult 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.
- Posterior embryotoxonHPOHP:0000627
- 5 of 5 reported patients
- Ectopia pupillaeHPOHP:0009918
- 2 of 5 reported patients
- Hypoplastic iris stromaHPOHP:0007990
- 2 of 5 reported patients
- Axenfeld anomalyHPOHP:0001492
- 1 of 5 reported patients · Congenital onset
- GlaucomaHPOHP:0000501
- 1 of 5 reported patients · Juvenile onset
- Peters anomalyHPOHP:0000659
- 1 of 5 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.
- FOXC1HGNC:3800
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
10 names
Resolves to: anterior segment dysgenesis 3
- Also called
- anterior segment dysgenesis 3, multiple subtypesASGD3FOXC1 iridogoniodysgenesisIGDAIGDA syndromeIRID1iridogoniodysgenesis anomaly, autosomal dominantiridogoniodysgenesis caused by mutation in FOXC1iridogoniodysgenesis type 1iridogoniodysgenesis, type 1