lymphoedema—primary—with myelodysplasia

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lymphoedema—primary—with myelodysplasia2016-11-26T22:02:37+00:00

lymphoedema—primary—with myelodysplasia

HAEMATOLOGY

Definition A disabling autosomal dominant condition (OMIM:614038) characterised by lymphoedema of the extremities due to altered lymphatic flow, associated with recurrent local infections, physical impairment, and myelodysplasia

Molecular pathology Defects of GATA2, which encodes a zinc-finger transcription factor that plays a key role in regulating genes involved in haematopoietic and endocrine cell lines, cause lymphoedema—primary—with myelodysplasia. 

Synonym Emberger syndrome

References http://www.uniprot.org/uniprot/P23769

http://www.omim.org/entry/614038

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