Features include very common findings: Bilateral microphthalmos and Coloboma; and common findings: Abnormal temporal bone morphology. 7 total HPO annotations.

GDF3

GDF3 encodes growth differentiation factor 3 (364 aa). Growth factor involved in early embryonic development and adipose-tissue homeostasis. Highest expression in Kidney Medulla (2.6 TPM) and Spleen (1.3 TPM).

Microphthalmia, isolated, with coloboma 6 is associated with mutations in the GDF3 gene on chromosome 12.

GDF3 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

GDF6

GDF6 encodes growth differentiation factor 6 (455 aa). Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Highest expression in Cells Cultured fibroblasts (2.7 TPM) and Uterus (2.6 TPM).

Microphthalmia, isolated, with coloboma 6 is associated with mutations in the GDF6 gene on chromosome 8.

GDF6 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.

Genetic testing for GDF3, GDF6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 very common features, 1 common feature.

No clinical trials have been registered for microphthalmia, isolated, with coloboma 6.

18 publications have been identified in PubMed for microphthalmia, isolated, with coloboma 6. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (11%).