Page last updated: 2024-09-27

Emberger Syndrome

A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system.

Synonyms(8)

Synonym
MonoMac Syndrome
GATA2 Haploinsufficiency
Primary Lymphedema with Myelodysplasia
Myelodysplastic Syndrome Acute Myeloid Leukemia
Immunodeficiency type 21
GATA2 Deficiency
Natural Killer Cell Deficiency
Emberger Syndrome

Research Excerpts

Research

Studies (6)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's2 (33.33)28.8240
2020's4 (66.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
busulfan0low10
prednisone0low10
trichloroacetic acid0low10
vidarabine0low10
atorvastatin0low10
tacrolimus0low10
mycophenolic acid0low10
fludarabine0low10
acitretin0low10

Protein Targets (173)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, JmjC domain-containing histone demethylation protein 3A2002
Luciferase1001
USP1 protein, partial2002
TDP1 protein7007
Microtubule-associated protein tau1001
AR protein7007
aldehyde dehydrogenase 1 family, member A15005
glucocorticoid receptor [Homo sapiens]6006
estrogen nuclear receptor alpha7007
peroxisome proliferator activated receptor gamma4004
euchromatic histone-lysine N-methyltransferase 22002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a6006
vitamin D3 receptor isoform VDRA3003
thyroid hormone receptor beta isoform 27007
flap endonuclease 11001
serine/threonine-protein kinase PLK11001
eyes absent homolog 2 isoform a1001
DNA polymerase eta isoform 11001
geminin7007
peripheral myelin protein 223003
survival motor neuron protein isoform d2002
histone acetyltransferase KAT2A isoform 11001
ATP-binding cassette sub-family C member 30303
Multidrug resistance-associated protein 40303
Bile salt export pump0101
Bile salt export pump0303
Rap guanine nucleotide exchange factor 31001
Cellular tumor antigen p536006
Rap guanine nucleotide exchange factor 41001
Chain A, Cruzipain1001
RAR-related orphan receptor gamma2002
SMAD family member 22002
SMAD family member 32002
GLI family zinc finger 33003
caspase 7, apoptosis-related cysteine protease1001
estrogen receptor 2 (ER beta)3003
nuclear receptor subfamily 1, group I, member 35005
retinoic acid nuclear receptor alpha variant 14004
retinoid X nuclear receptor alpha4004
estrogen-related nuclear receptor alpha4004
pregnane X nuclear receptor4004
peroxisome proliferator-activated receptor delta2002
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
caspase-31001
Caspase-71001
thyroid hormone receptor beta isoform a1001
caspase-31001
nuclear factor erythroid 2-related factor 2 isoform 16006
Voltage-dependent calcium channel gamma-2 subunit2002
Solute carrier organic anion transporter family member 2B1 0001
3-hydroxy-3-methylglutaryl-coenzyme A reductase0202
ATP-dependent translocase ABCB10101
Insulin receptor 0101
Glutamate receptor 22103
Dipeptidyl peptidase 40101
Prostaglandin G/H synthase 20101
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0101
Histone deacetylase 10101
Histone deacetylase 20101
Solute carrier organic anion transporter family member 1B30001
Histone deacetylase 60101
Broad substrate specificity ATP-binding cassette transporter ABCG20202
Solute carrier organic anion transporter family member 1B10203
Chain A, 2-oxoglutarate Oxygenase2002
15-lipoxygenase, partial1001
apical membrane antigen 1, AMA11001
thyroid stimulating hormone receptor2002
cytochrome P450 family 3 subfamily A polypeptide 41001
EWS/FLI fusion protein3003
aryl hydrocarbon receptor2002
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
lethal factor (plasmid)2002
lamin isoform A-delta103003
Matrix metalloproteinase-90101
Disintegrin and metalloproteinase domain-containing protein 171001
Canalicular multispecific organic anion transporter 10202
Chain A, Beta-lactamase1001
Fumarate hydratase1001
Smad31001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)2002
corticotropin-releasing hormone receptor 20112
polyprotein1001
67.9K protein3003
corticotropin releasing factor-binding protein0112
IDH11001
chromobox protein homolog 12002
nuclear factor erythroid 2-related factor 2 isoform 23003
glycogen synthase kinase-3 beta isoform 10022
urokinase-type plasminogen activator precursor3003
plasminogen precursor3003
urokinase plasminogen activator surface receptor precursor3003
5'-nucleotidase0101
Adenosine receptor A30101
Adenosine deaminase 0002
Chain A, Inosine-5'-Monophosphate Dehydrogenase 20101
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
acetylcholinesterase1001
glp-1 receptor, partial2002
progesterone receptor2002
farnesoid X nuclear receptor1001
activating transcription factor 61001
Histone H2A.x1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
UDP-glucuronosyltransferase 1A90001
Inosine-5'-monophosphate dehydrogenase 20202
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Glutamate receptor 10101
Glutamate receptor 30101
Glutamate receptor 40101
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Inosine-5'-monophosphate dehydrogenase 1 0202
UDP-glucuronosyltransferase 1A1 0001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Sodium-dependent serotonin transporter0101
Peroxisome proliferator-activated receptor gamma0011
Alpha-synuclein1001
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
TAR DNA-binding protein 431001
Inosine-5'-monophosphate dehydrogenase0102
GABA theta subunit1001
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Gamma-aminobutyric acid receptor subunit epsilon1001
UDP-glucuronosyltransferase 1A70001
UDP-glucuronosyltransferase 1A100001
UDP-glucuronosyltransferase 1A80001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
pregnane X receptor1001
thioredoxin glutathione reductase1001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
nuclear receptor ROR-gamma isoform 12002
Glucocorticoid receptor0213
Glycine receptor subunit alpha-10202
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Nuclear receptor ROR-gamma1001
Chain A, Ferritin light chain1001
DNA polymerase kappa isoform 11001
Nuclear receptor subfamily 1 group I member 20011
Cytochrome P450 3A40101
UDP-glucuronosyltransferase 2B70001
Cytochrome P450 3A50101
UDP-glucuronosyltransferase 1A40001
Serine/threonine-protein kinase mTOR0101
Spike glycoprotein1001
Peptidyl-prolyl cis-trans isomerase FKBP1A0213
Peptidyl-prolyl cis-trans isomerase FKBP1B0011
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform0101
Peptidyl-prolyl cis-trans isomerase FKBP50101
Splicing factor 3B subunit 30101
cellular tumor antigen p53 isoform a1001
Integrin beta-31001
Integrin alpha-IIb1001
thioredoxin reductase1001
Thymidine kinase, cytosolic0001
Dipeptidyl peptidase 40101
Histamine H1 receptor0011
Adenosylhomocysteinase0101
RNA-directed RNA polymerase 0112
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]