TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE We have also shown here that point mutants of TBX-3, which are found in Ulnar-Mammary Syndrome, have lost the ability to inhibit senescence and fail to repress mouse p19(ARF) and human p14(ARF) expression. 11748239 2002
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE The crystal structure of the T-box domain of the first human T-box transcription factor, TBX3, in complex with DNA at 1.7 A resolution explains structural consequences of T-box domain point mutations observed in UMS and HOS patients. 12005433 2002
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. 12668638 2003
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease BEFREE TBX3 is required for normal mammary development in mouse models and in patients with ulnar-mammary syndrome (UMS). 15300007 2004
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome. 30654152 2020
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or short stature with or without growth hormone deficiency. 21199695 2011
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE In humans, mutations in Tbx3 cause ulnar-mammary syndrome. 18467625 2008
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease BEFREE Haploinsufficiency for TBX3 causes ulnar-mammary syndrome (UMS) in humans, a multi-organ system disorder. 30292786 2018
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE TBX3 is critical for human development: mutations in TBX3 cause congenital anomalies in patients with ulnar-mammary syndrome. 22203979 2012
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE Two familial diseases, Holt-Oram syndrome and ulnar-mammary syndrome, were recently shown to be caused by mutations in the human T-box genes TBX5 and TBX3, respectively. 9611267 1998
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE UMS-causing mutations in Tbx3 have been found at numerous sites within the TBX3 gene, with many occurring downstream from the N-terminally located T-domain. 11689487 2001
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE Ulnar mammary syndrome (UMS), an autosomal dominant disorder caused by mutations in TBX3, underscores the importance of TBX3 in human breast development, while abnormal mammary gland development in Tbx2 or Tbx3 mutant mice provides models for experimental investigation. 23624936 2013
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease BEFREE The T-box transcription factor, TBX3, plays an important role in embryonic development, and haploinsufficiency of TBX3 causes ulnar-mammary syndrome. 24025717 2013
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism. 12668170 2003
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE Mutations in TBX3 that result in reduced functional protein lead to ulnar-mammary syndrome, a developmental disorder characterized by limb, mammary gland, tooth, and genital abnormalities. 22535523 2012
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE Our observations with these alleles in mice, and the different types of TBX3 mutations observed in human ulnar-mammary syndrome, suggest that not all mutations observed in humans generate functionally null alleles. 23844108 2013
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GermlineCausalMutation disease ORPHANET Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism. 12668170 2003
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. 30550377 2018
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease MGD Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. 12668638 2003
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease BEFREE Re-examination of an individual with UMS reveals similar previously unrecognized muscle and bone eminence defects and indicates a conserved role for TBX3 in regulating musculoskeletal development. 27491074 2016
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE TBX3 mutations in humans cause complex congenital malformations and Ulnar-mammary syndrome. 24675841 2014
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease BEFREE Expression of Tbx1 and Tbx3, the DiGeorge/velo-cardio-facial (DGS) and Ulnar-mammary syndrome (UMS) disease genes, was expanded in miR-17-92 mutant craniofacial structures. 24068957 2013
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease UNIPROT However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS. 10330342 1999
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GermlineCausalMutation disease ORPHANET The diagnosis of UMS was confirmed on mutation analysis of TBX3. 19938096 2009
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE One of the main features of the UMS phenotype is the severe hypoplasia of the breast, associated with haploinsufficiency of the TBX3 gene product. 17265068 2007