×
Entrez Id:
2323
Gene Symbol:
FLT3LG
FLT3LG
0.010
Biomarker
disease
BEFREE
A pattern of dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency (DCML deficiency) with elevated Fms-like tyrosine kinase 3 ligand (Flt3L ) was observed in all 20 patients phenotyped, including patients with Emberger syndrome , monocytopenia with Mycobacterium avium complex (MonoMAC), and MDS.
24345756
2014
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
CausalMutation
disease
CLINVAR
Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
27894982
2017
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
CausalMutation
disease
CLINVAR
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome ).
21892158
2011
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
27418648
2016
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
Biomarker
disease
CTD_human
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
Biomarker
disease
GENOMICS_ENGLAND
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
20803646
2010
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome ).
21892158
2011
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
SusceptibilityMutation
disease
ORPHANET
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
BEFREE
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome .
28271814
2017
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
Biomarker
disease
GENOMICS_ENGLAND
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
27418648
2016
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
25879889
2015
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
Biomarker
disease
BEFREE
Patients with GATA2 (Emberger syndrome ) deficiency needs early hematopoietic stem cell transplant (HSCT) before evolving in to myelodysplastic syndrome or acute myeloid leukemia and with time given compromised organ dysfunction leads to increase regimen-related toxicities.
28234738
2017
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
26492932
2015
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
CausalMutation
disease
CLINVAR
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
21670465
2011
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
26702063
2016
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
23502222
2013
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
CausalMutation
disease
CLINVAR
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
25676417
2015
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
BEFREE
We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome.
29189513
2018
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
23365458
2013
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
CausalMutation
disease
CLINVAR
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
21892162
2011
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
CausalMutation
disease
CLINVAR
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
23365458
2013
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
UNIPROT
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome ).
21892158
2011
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
Biomarker
disease
BEFREE
Heterozygous germline mutations in the zinc finger transcription factor GATA2 have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome , a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML).
26214525
2015
×
Entrez Id:
2624
Gene Symbol:
GATA2
GATA2
0.770
GeneticVariation
disease
CLINVAR
Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.
24266605
2013