Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Emberger syndrome is an autosomal dominant disorder caused by mutations of the GATA2 gene. It is characterized by lymphedema, deafness, and myelodysplasia.
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Mansour S et al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. 
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Ostergaard P et al. (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
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Emberger JM et al. (1979) [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
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Attal M et al. (1985) [Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case].
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OMIM.ORG article Omim 614038
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Orphanet article Orphanet ID 3226
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Wikipedia article Wikipedia EN (Emberger_syndrome)
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