Signs and symptoms
The age of onset of the Emberger syndrome is variable with rare individuals showing first symptoms such as lymphedema occurring in early infancy while others are symptomless or develop first symptoms in their middle and latter years. This variability can occur between members of the same family who are documented to have the same GATA2 mutation. The syndromes most common times of onset are infancy and early childhood. The syndrome may present with unexplained lymphedema, hearing loss, and/or hematological defects like  neutropenia, anemia, thrombocytopenia, and/or the circulation of abnormal blood cells. Other defects less commonly associated with and the syndrome include hypotelorism, epicanthic folds, hydrocele, webbed neck, and warts caused be human papillomavirus infection. In these case of relatively benign symptoms and signs, the syndrome commonly progresses rapidly or slowly to myelodysplastic syndrome followed by acute myeloid leukemia. Less commonly, Emberger syndrome presents with the myelodysplastic syndrome and/or acute myeloid leukemia. Genetics
GATA2 gene
GATA2 is a member of the evolutionarily conserved GATA transcription factor family of genes:: all tested vertebrates express six GATA genes. The human GATA2 gene is located on the long arm (or "q" arm) of chromosome 3 at position 21.3 (i.e. located at 3q21.3). In humans, it is expressed in hematologic cells at the stem cell and later progenitor cell stages of their development.
The transcription factor also contains two transactivation domains and one negative regulatory domain which interact with nuclear proteins to up-regulate and down-regulate, respectively, its activity.GATA2 binds to a specific nucleic acid sequence  viz., (T/A(GATA)A/G) on the promoter and enhancer sites of its target genes and in doing so either stimulates or suppresses these genes expression. However, there are thousands of sites in human DNA with this nucleotide sequence but, for unknown reasons, GATA2 binds to <1% of these. Furthermore, all members of the GATA transcription factor family bind to this same nucleotide sequence and in doing so may interfere with GATA2 binding or even displace GATA2 already bound to these sites. For example, the displacement of GATA2 bond to this sequence by GATA1 appears important for the normal development of certain hematological stem cells. This phenomenon is termed the "GATA switch". Given these many variables, the GATA2 transcription factors actions in promoting or inhibiting its target genes is exceedingly complex and not completely understood. Pathophysiology
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.