Axenfeld-Rieger syndrome type 3
Findings
No curated finding names Axenfeld-Rieger syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011233), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Ectopia pupillaeHPOHP:0009918
- 9 of 9 reported patients
- Hypoplasia of the irisHPOHP:0007676
- 9 of 9 reported patients
- Posterior embryotoxonHPOHP:0000627
- 9 of 9 reported patients
- HypertelorismHPOHP:0000316
- 5 of 9 reported patients
- Malar flatteningHPOHP:0000272
- 4 of 9 reported patients
- MicrodontiaHPOHP:0000691
- 4 of 9 reported patients
- Posterior synechiae of the anterior chamberHPOHP:0011484
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
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: Axenfeld-Rieger syndrome type 3
- Also called
- anterior chamber cleavage syndromeAxenfeld-Rieger syndrome caused by mutation in FOXC1FOXC1 Axenfeld-Rieger syndromeRIEG3