GATA3, GATA binding protein 3, 2625

N. diseases: 429; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Mutations of GATA3 cause Hypoparathyroidism, sensorineural Deafness and Renal dysplasia syndrome (HDR). 19022243 2009
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Chromosome 10p terminal deletions have been associated with DiGeorge phenotype, and within the same genomic region haploinsufficiency of GATA3 causes the HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia). 20425828 2010
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. 23186964 2013
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE We provide further evidence that HDR syndrome is caused by haploinsufficiency of GATA3. 26268891 2015
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE The aim of the study was to identify the GATA3 mutation in a HDR patient and determine its functional consequences. 19723756 2009
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE This is the first report of a heterozygous GATA3 whole gene deletion causing HDR syndrome in a Sri Lankan family. 31660939 2019
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE Here we discuss the clinical characteristics of the HDR syndrome and present an overview of the role of GATA3 and related GATA-binding transcription factors during vertebrate embryonic development and their involvement in human disease. 11577985 2001
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE In addition, the ubiquitous transcription factor SP1 also interacted with Gata3 as well as MafB and Gcm2, and HDR syndrome-associated Gata3 mutants were defective in activating the PTH promoter. 25917456 2015
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE One of the somatic mutations we identified was identical to a germline GATA3 mutation reported in two kindreds with HDR syndrome/OMIM #146255, which is an autosomal dominant syndrome caused by the haplo-insufficiency of GATA3. 15361840 2004
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum. 11389161 2001
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia. 21399899 2011
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Heterozygous GATA3 mutations occur in up to 15% of estrogen receptor (ER)-positive breast tumors and have been proposed to be null alleles resulting in haploinsufficiency; however, the mutation spectrum of GATA3 in breast cancer is in sharp contrast to that found in HDR syndrome, a true GATA3 haploinsufficiency disease. 30061207 2018
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Thus, the presence of triad of HDR syndrome was considered, and genetic analysis using a next-generation sequencer identified a novel de novo missense mutation in exon 4 p.R276Q (c.827G>A) of GATA3 gene. 26777049 2015
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Thus, our results, which expand the spectrum of HDR-associated GATA3 mutations and report the first acceptor splice site mutation, help to elucidate the molecular mechanisms that alter the function of this zinc finger transcription factor and its role in causing this developmental anomaly. 14985365 2004
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene. 30218523 2018
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency. 23757620 2014
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations. 25124981 2014
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE Whole-genome sequencing identified novel mutations in GATA3, which causes HDR syndrome (hypoparathyroidism and deafness), and STS, which causes X -linked congenital ichthyosis. 26731259 2016
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE Because mutation of the homologous cysteine causes HDR in humans, these zebrafish mutants could be a quick and effective animal model for understanding the role of gata3 in the HDR disease spectrum. 23720234 2013
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE While GATA3 was identified as the disease causing gene for HDR syndrome, no genes have been identified thus far for the symptoms associated with DGCR2 haploinsufficiency. 12110949 2002
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome. 26514990 2015
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 16509533 2006
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE Our results demonstrate the essential role of Gata3 in specifying the prosensory domain in the cochlea and in regulating the survival of SGNs, thus identifying a molecular mechanism underlying human HDR syndrome. 23666531 2013
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 GeneticVariation disease BEFREE HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report. 29073906 2017
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		1.000 Biomarker disease BEFREE Loss of gata3 in inner hair cells causes progressive hearing loss and accounts for at least some of the deafness associated with the human hypoparathyroidism, deafness and renal anomaly (HDR) syndrome. 31069810 2019