GATA3 encodes GATA binding protein 3 (443 aa). Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Highest expression in Skin Not Sun Exposed Suprapubic (269.4 TPM) and Skin Sun Exposed Lower leg (244.1 TPM).

Hypoparathyroidism-deafness-renal disease syndrome is caused by mutations in the GATA3 gene on chromosome 10.

The GATA3 protein participates in Expression of GATA3, Expression of GATA3 in the nephric duct, and GATA3 regulates expression of IL5 pathways.

GATA3 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 1.4.

Genetic testing for GATA3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 2 very common features.

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

No clinical trials have been registered for hypoparathyroidism-deafness-renal disease syndrome.

22 publications have been identified in PubMed for hypoparathyroidism-deafness-renal disease syndrome. Research spans Case Report / Case Series (77%), Review / Meta-Analysis (14%), and Other (5%).

Recent Publications

• Bibik E (2026). [PMID: 41952051](https://pubmed.ncbi.nlm.nih.gov/41952051/). *Clin Endocrinol (Oxf)*. [Case Report / Case Series]

• Meiss LN (2026). [PMID: 41190486](https://pubmed.ncbi.nlm.nih.gov/41190486/). *American journal of medical genetics. Part A*. [Case Report / Case Series]

• Zuo B (2026). [PMID: 41673963](https://pubmed.ncbi.nlm.nih.gov/41673963/). *Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery*. [Case Report / Case Series]

• Torchinsky MY (2026). [PMID: 41756473](https://pubmed.ncbi.nlm.nih.gov/41756473/). *JCEM case reports*. [Case Report / Case Series]

• Çordan İ (2026). [PMID: 42017099](https://pubmed.ncbi.nlm.nih.gov/42017099/). *Cureus*. [Case Report / Case Series]

• Alvey L (2025). [PMID: 41064049](https://pubmed.ncbi.nlm.nih.gov/41064049/). *Molecular syndromology*. [Case Report / Case Series]

• Domínguez-Ruiz M (2025). [PMID: 40650141](https://pubmed.ncbi.nlm.nih.gov/40650141/). *International journal of molecular sciences*. [Case Report / Case Series]

• Valenciaga A (2025). [PMID: 39822657](https://pubmed.ncbi.nlm.nih.gov/39822657/). *JCEM case reports*. [Case Report / Case Series]

• Roztoczyńska D (2025). [PMID: 40686918](https://pubmed.ncbi.nlm.nih.gov/40686918/). *Case reports in pediatrics*. [Other]

• Satariano M (2025). [PMID: 41019281](https://pubmed.ncbi.nlm.nih.gov/41019281/). *Case reports in nephrology*. [Case Report / Case Series]