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Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.
Features include very common findings: Abnormality of the dentition, Hypoplastic iris stroma, Iris hypopigmentation, and Glaucoma. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 1 | Abnormal facial shape |
Eyes |
PITX2 function has not been fully characterized.
Anterior segment dysgenesis 4 is associated with mutations in the PITX2 gene on chromosome 4.
Genetic testing for PITX2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 very common features.
No clinical trials have been registered for anterior segment dysgenesis 4.
2 publications have been identified in PubMed for anterior segment dysgenesis 4. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Hall J (2025). [PMID: 40138169](https://pubmed.ncbi.nlm.nih.gov/40138169/). *Ophthalmology and therapy*. [Review / Meta-Analysis]
Mitchell LA (2025). [PMID: 40502565](https://pubmed.ncbi.nlm.nih.gov/40502565/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1 |
Glaucoma |
AI-curated news mentioning anterior segment dysgenesis 4
Updated Jul 28, 2026
A study analyzed 111 patients with bilateral anterior segment dysgenesis, aniridia, microphthalmia, and anophthalmia, providing insights into the molecular and clinical characteristics of these conditions. The findings may enhance understanding and management of these rare eye disorders.