Emberger syndrome

Emberger syndrome is a rare autosomal dominant genetic disorder caused by familial or sporadic inactivating mutations in one of a person two copies of the GATA2 gene, reducing levels of the GATA2 transcription factor that is needed to develop and maintain blood-forming, lymphatic and other tissues. Its main features are serious blood disorders including myelodysplastic syndrome and acute myeloid leukemia, lymphedema, or fluid retention and swelling in the lower limbs from a compromised lymphatic system, and sensorineural hearing loss, though the severity varies widely, with some people showing minimal symptoms for years while others progress rapidly to life-threatening blood disease. It is considered precancerous, since most affected people eventually develop a leukemic disorder.