Features include very common findings: Lymphedema; and common findings: Acute myeloid leukemia and Myelodysplasia. 13 total HPO annotations.

GATA2 encodes GATA binding protein 2 (480 aa). Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3' Highest expression in Uterus (86.1 TPM) and Prostate (69.7 TPM).

Deafness-lymphedema-leukemia syndrome is associated with mutations in the GATA2 gene on chromosome 3.

The GATA2 protein participates in CEBPA gene:RUNX1:SPI1:GATA2:TAL1:FLI1:MYB, RUNX1, SPI1 (PU.1), GATA2, TAL1 (SCL), FLI1, and MYB bind the CEBPA promoter, and CEBPA gene transcription is enhanced by RUNX1, SPI1 (PU.1), GATA2, TAL1 (SCL), FLI1, MYB, LEF1, and CEBPA pathways.

GATA2 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 0.6.

Genetic testing for GATA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for deafness-lymphedema-leukemia syndrome has been reported in the published literature.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

74 publications have been identified in PubMed for deafness-lymphedema-leukemia syndrome. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (19%).