Features include always present findings: Posterior embryotoxon; and common findings: Ectopia pupillae and Hypoplastic iris stroma. 10 total HPO annotations.

FOXC1 encodes forkhead box C1 (553 aa). DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Highest expression in Artery Tibial (171.9 TPM) and Artery Aorta (171.5 TPM).

Anterior segment dysgenesis 3 is associated with mutations in the FOXC1 gene on chromosome 6.

The FOXC1 protein participates in Kidney development, Formation of intermediate mesoderm, and Expression of MESP2 in presomitic mesoderm pathways.

FOXC1 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for FOXC1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 2 common features.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

2 publications have been identified in PubMed for anterior segment dysgenesis 3. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Bohnsack BL (2026). [PMID: 41242594](https://pubmed.ncbi.nlm.nih.gov/41242594/). *American journal of ophthalmology*. [Basic Science / Preclinical]

• Nihalani BR (2024). [PMID: 38104771](https://pubmed.ncbi.nlm.nih.gov/38104771/). *Ophthalmology. Glaucoma*. [Epidemiology / Natural History]