Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Emberger syndrome

Emberger syndrome is an autosomal dominant disorder caused by mutations of the GATA2 gene. It is characterized by lymphedema, deafness, and myelodysplasia.

Systematic

Hereditary lymphedema
Emberger syndrome
GATA2
Hennekam syndrome
Hereditary lymphedema type 1a
Hereditary lymphedema type 1c
Hereditary lymphedema type 1d
Hereditary lymphedema with distichiasis
Microcephaly-lymphedema-chorioretinopathy syndrome

References:

1.

Mansour S et. al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

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2.

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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3.

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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4.

Attal M et. al. (1985) [Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case].

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Update: Sept. 26, 2018