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 GeneticVariation disease BEFREE MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. 30799418 2019
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 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 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 Biomarker disease BEFREE The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype. 22796526 2012
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE This article will discuss recent developmental biologic understanding of the role of TBX1 and genetic modifiers generating the phenotypic variability seen in VCFS patients. 23000736 2012
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 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 Biomarker disease MGD Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. 21177346 2011
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 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
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 Biomarker disease GENOMICS_ENGLAND Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. 17377518 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty. 17117043 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease BEFREE Deletions of proximal 22q11.2 comprise the most frequently occurring microdeletion syndrome, DiGeorge/Velocardiofacial syndrome (DGS/VCFS), in which most breakpoints have been localized to a 3 Mb region containing four large LCRs. 17351135 2007
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GeneticVariation disease UNIPROT Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. 17273972 2007
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 FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. 16915592 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease CTD_human Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. 17000704 2006
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE The differentially deleted regions contain several hypothetical proteins and UniGene clusters and may partially explain the clinical heterogeneity observed in DGS/VCFS patients with the 3-Mb common deletion. 16307865 2006
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 Biomarker disease BEFREE The DiGeorge critical region 6 (DGCR6) gene exists in two highly homologous copies (DGCR6 and DGCR6L) on chromosome 22q11 and is deleted in patients with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). 15821931 2005
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. 15662599 2005
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 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