Features include common findings: Retinal coloboma, High myopia, Nystagmus, and Cortical cataract and others; and sometimes findings: Strabismus, Retinal detachment, Photophobia, and Hypoplasia of the fovea and others.

FZD5 encodes frizzled class receptor 5 (585 aa). Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 signaling. Highest expression in Colon Transverse (27.6 TPM) and Colon Sigmoid (18.0 TPM).

Microphthalmia/coloboma 11 is associated with mutations in the FZD5 gene on chromosome 2.

The FZD5 protein participates in WNT5A-dependent internalization of FZD2, FZD5 and ROR2, FZD2, FZD5 and ROR2 are internalized in a WNT5A and clathrin-dependent manner, and WNT3A stimulates the caveolin-dependent internalization of FZD5:p-LRP6 pathways.

FZD5 is classified as a druggable target (Cell Surface, G Protein Coupled Receptor, and Kinase categories) with score 7.5.

Genetic testing for FZD5 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 common features.

No clinical trials have been registered for microphthalmia/coloboma 11.

3 publications have been identified in PubMed for microphthalmia/coloboma 11. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Merepa SS (2025). [PMID: 40301690](https://pubmed.ncbi.nlm.nih.gov/40301690/). *European journal of human genetics : EJHG*. [Epidemiology / Natural History]

• Monfries C (2025). [PMID: 40401611](https://pubmed.ncbi.nlm.nih.gov/40401611/). *Disease models & mechanisms*. [Basic Science / Preclinical]

• Cortés-González V (2024). [PMID: 39503780](https://pubmed.ncbi.nlm.nih.gov/39503780/). *Human genetics*. [Case Report / Case Series]