TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Shprintzen syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS. 11239417 2001
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE To demonstrate the efficiency, sensitivity, and specificity of PRINS in the diagnosis of microdeletions, we studied groups of patients with Prader Willi/Angelman (PWS/AS) syndrome and DiGeorge/velocardiofacial syndrome (DGS/VCFS). 11807885 2002
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease MGD The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. 11242110 2001
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease CTD_human Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. 15190012 2004
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE This report describes the use of metyrosine (Demser) in an adolescent male with psychosis associated with the 22q11.2 deletion syndrome (velocardiofacial syndrome; VCFS), diagnosed by fluorescence in situ hybridization (FISH). 17343559 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. 15523900 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. 14585638 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. 9986884 1999
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS)-are associated with four, three, and one dose, respectively, of parts of 22q11. 11925570 2002
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). 28059126 2017
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Schizophrenia or schizoaffective disorders are quite common features in patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. 12497610 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE A recognizable syndrome or genetic disorder was identified in 14 children (15.4%), of which 8 children (9%) were thought to be causative of PDD (5 children with Rett syndrome, 2 with fragile X syndrome, and 1 with velocardiofacial syndrome [VCFS]). 9809261 1998
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Schizophrenia (SCZD) or schizoaffective disorders are quite common features in patients with DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of chromosome 22q11.2 aploinsufficiency. 15532024 2004
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS). 12700609 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of chromosome 22q11. 11242110 2001
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 AlteredExpression disease BEFREE Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level. 21797804 2011
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates. 25209980 2015
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE These include the 3-Mb region commonly deleted in DiGeorge/velocardiofacial syndrome (DGS/VCFS), the cat eye syndrome (CES) region, and more distal regions in 22q11 that have recently been shown to be deleted. 18033723 2008
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease CTD_human Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. 16399080 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate. 25556186 2015
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. 9216164 1997
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE DiGeorge syndrome, or velocardiofacial syndrome (DGS/VCFS), is a rare and usually sporadic congenital genetic disorder resulting from a constitutional microdeletion at chromosome 22q11.2. 20730472 2011
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE 22q11 deletion syndrome (22qDS), also known as DiGeorge or velocardiofacial syndrome (DGS/VCFS), is a relatively common genetic anomaly that results in malformations of the heart, face and limbs. 12175881 2002
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Fluorescence in situ hybridization did not show major deletions or duplications of the DiGeorge/VCFS (velocardiofacial syndrome) region at chromosome 22q11.1 as well as the TBX5/TBX3 region at 12q24.1. 18726671 2008