anterior segment dysgenesis 4
Findings
No curated finding names anterior segment dysgenesis 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007662), 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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- Hypoplastic iris stromaHPOHP:0007990
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
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 · G2P · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: anterior segment dysgenesis 4
- Also called
- IRID2iridogoniodysgenesis caused by mutation in PITX2iridogoniodysgenesis, type 2PITX2 iridogoniodysgenesis