Emberger Syndrome
|
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 |
Emberger Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Multiple Opportunistic Infections in a Woman with GATA2 Mutation.
|
27894982 |
2017 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
|
28271814 |
2017 |
Emberger Syndrome
|
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 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
Emberger Syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
|
26702063 |
2016 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Single-gene association between GATA-2 and autoimmune hepatitis: A novel genetic insight highlighting immunologic pathways to disease.
|
26812071 |
2016 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
|
25879889 |
2015 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.
|
26492932 |
2015 |
Emberger Syndrome
|
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 |
Emberger Syndrome
|
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 |
Emberger Syndrome
|
0.770 |
Biomarker
|
disease |
BEFREE |
Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups.
|
25619630 |
2015 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.
|
24077845 |
2014 |
Emberger Syndrome
|
0.770 |
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 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
Emberger Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Abstracts of the UK PIN (Primary Immunodeficiency Network) Meeting. December 6-7, 2013. Liverpool, United Kingdom.
|
24266605 |
2013 |
Emberger Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.
|
23502222 |
2013 |
Emberger Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |
Emberger Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
|
21670465 |
2011 |
Emberger Syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
|
21892162 |
2011 |
Emberger Syndrome
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
|
21892158 |
2011 |