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 MGD Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. 15175244 2004
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease MGD 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 Children with 22q11.2 microdeletions (Velocardiofacial Syndrome; VCFS) have previously been shown to exhibit learning deficits and elevated rates of psychopathology. 15788257 2004
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Unlike Williams syndrome, we found no chromosomal inversions flanked by LCRs in 22 sets of parents of 22q11 deleted patients, or in eight non-deleted patients with a DGS/VCFS phenotype using FISH. 14681306 2004
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE However, to date there is no evidence for a mechanism of haploinsufficiency that can fully explain the DGS/VCFS phenotype. 15177686 2004
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). 14708107 2004
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 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 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 UNIPROT Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 GermlineCausalMutation disease ORPHANET Role of TBX1 in human del22q11.2 syndrome. 14585638 2003
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 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 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 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 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 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 Biomarker disease BEFREE Schizophrenia or schizoaffective disorders are often found in patients affected by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. 11496370 2001
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease MGD 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 Biomarker disease BEFREE Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 22q11 deletions. 11709542 2001
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 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 The DiGeorge anomaly (DGA), originally considered a clinical paradigm for isolated thymus deficiency, has now been redefined as a member of a group of disorders that share in common a chromosome deletion, which results in monosomy 22q11 (CATCH-22 or DiGeorge/velocardiofacial [VCFS] syndrome). 9801257 1998
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease BEFREE Here we demonstrate that mice deficient for one type of endothelin receptor, ETA, mimic the human conditions collectively termed CATCH 22 or velocardiofacial syndrome, which include severe craniofacial deformities and defects in the cardiovascular outflow tract. 9449664 1998
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