Axenfeld-Rieger syndrome type 1
Findings
No curated finding names Axenfeld-Rieger syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.
Definition from the Mondo Disease Ontology (MONDO:0008386), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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
- 1 of 1 reported patient
- Hypoplasia of the irisHPOHP:0007676
- 1 of 1 reported patient
- MicrodontiaHPOHP:0000691
- 1 of 1 reported patient
- OligodontiaHPOHP:0000677
- 1 of 1 reported patient
- Posterior embryotoxonHPOHP:0000627
- 1 of 1 reported patient
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.
- PITX2HGNC:9005
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: Axenfeld-Rieger syndrome type 1
- Also called
- Axenfeld-Rieger syndrome caused by mutation in PITX2PITX2 Axenfeld-Rieger syndromeRIEG1Rieger syndrome type 1