Features include rarely findings: Ectopia pupillae. 2 total HPO annotations.

GRHL2 encodes grainyhead like transcription factor 2 (625 aa). Transcription factor playing an important role in primary neurulation and in epithelial development. Highest expression in Skin Not Sun Exposed Suprapubic (41.4 TPM) and Skin Sun Exposed Lower leg (39.8 TPM).

Corneal dystrophy, posterior polymorphous, 4 is associated with mutations in the GRHL2 gene on chromosome 8.

The GRHL2 protein participates in Positive Regulation of CDH1 Gene Transcription pathway.

GRHL2 is classified as a druggable target (Enzyme and Transcription Factor categories) with score 0.0.

Genetic testing for GRHL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for corneal dystrophy, posterior polymorphous, 4 has been reported in the published literature.

No clinical trials have been registered for corneal dystrophy, posterior polymorphous, 4.

9 publications have been identified in PubMed for corneal dystrophy, posterior polymorphous, 4. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (13%).

Recent Publications

• Qiu J (2026). [PMID: 42147942](https://pubmed.ncbi.nlm.nih.gov/42147942/). *Quant Imaging Med Surg*. [Diagnostic / Biomarker]

• Balal S (2026). [PMID: 41569999](https://pubmed.ncbi.nlm.nih.gov/41569999/). *European journal of ophthalmology*. [Clinical Trial Publication]

• Flockerzi E (2026). [PMID: 41248687](https://pubmed.ncbi.nlm.nih.gov/41248687/). *Klinische Monatsblatter fur Augenheilkunde*. [Review / Meta-Analysis]

• Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clinical & experimental ophthalmology*. [Review / Meta-Analysis]

• Koval T (2025). [PMID: 39879122](https://pubmed.ncbi.nlm.nih.gov/39879122/). *Cornea*. [Case Report / Case Series]