Features include always present findings: Blue irides, Hypopigmentation of the fundus, White eyelashes, and Generalized hypopigmentation and others. 7 total HPO annotations.

MITF encodes melanocyte inducing transcription factor (526 aa). Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. Highest expression in Cervix Ectocervix (70.8 TPM) and Cervix Endocervix (58.0 TPM).

Tietz syndrome is associated with mutations in the MITF gene on chromosome 3.

The MITF protein participates in p-S397,401,405,409 MITF-M, p-S69, S73 MITF-M, and MITF gene expression pathways.

MITF is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Enzyme, and Transcription Factor categories) with score 1.0.

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

Phenotype severity distribution: 6 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Tietz syndrome.

1 publication has been identified in PubMed for Tietz syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

• Yamamoto K (2024). [PMID: 38439523](https://pubmed.ncbi.nlm.nih.gov/38439523/). *Pigment cell &amp; melanoma research*. [Case Report / Case Series]