GATA2 deficiency with susceptibility to MDS/AML

MONDO:0042982

A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).

Also known as: GATA2 deficiency, GATA2 deficiency with susceptibility to MDS/AML, GATA2 deficiency/MonoMac syndrome

21 clinical trials for this condition and its sub-types.

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