The GATA2 transcription factor is critical for the emergence of hematologic stem cells from the hemogenic endothelium during embryogenesis. Deletion of both Gata2 genes in mice is lethal by about day 10 of embryogenesis due to collapse in the formation of mature blood cells. Inactivation of one mouse Gata2 gene is neither lethal nor associated with most of the signs of human GATA2 deficiency except that these animals have ~50% reduction in their hematologic stem cells. The latter findings as well as clinical studies in vitro experiments on human tissues support the notion that both parental GATA2 genes are needed to produce levels of the GATA2 transcription factor sufficient for developing and maintaining normal levels of hematological stem and progenitor cells in humans. The transcription factor's role in performing this function involves complex and incompletely understood interactions with a network of hematopoietic transcription factors including RUNX1, TAL1, MYB, GFI1, FLI1, LYL1, and PU.1. It is not exactly clear how reduced levels of GATA2 cause any of<unk> 's hematological disorders. The role of GATA2 in promoting the normal development of the lymphatic stem cells may be responsible for the other two key features of the<unk> . That is, failure to develop competent valves and/or vessels in the lymphatic system, it is proposed, is responsible for the lymphedema of<unk>  while failure to generate the perilymphatic space around the inner ear's semicircular canals, it is proposed, is responsible for the syndrome's sensorineural hearing loss.
Emberger syndrome
Muir–Torre syndrome
Christianson syndrome
Galloway Mowat syndrome
Mungan syndrome
Fraser syndrome
Zieve's syndrome
Cohen syndrome