Hematology · Hematology / Bone marrow failure
GATA2 deficiency syndrome
also: Emberger syndrome; MonoMAC syndrome
Immunodeficiency with myelodysplasia, monocytopenia and lymphedema.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, adolescence
- Gene(s) involved
- GATA2
- Alternative names & eponyms
- Emberger syndrome; MonoMAC syndrome
Etiology & mechanism
GATA2 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with GATA2 deficiency syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Cantú syndrome
lymphedema
1 shared
Congenital rubella syndrome
deafness
1 shared
Fechtner syndrome
deafness
1 shared
Johanson–Blizzard syndrome
deafness
1 shared
Kallmann syndrome with neurological involvement
deafness
1 shared
Kearns–Sayre syndrome
deafness
1 shared
Klippel–Feil syndrome
deafness
1 shared
Shwachman–Diamond syndrome
myelodysplasia
1 shared
Turner syndrome
lymphedema
1 shared
Turner syndrome cardiovascular disease
lymphedema
Shares genes with
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