TBX19, T-box transcription factor 19, 9095

N. diseases: 35; N. variants: 10
Disease: ACTH Deficiency, Isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GeneticVariation disease BEFREE Herein, we report a patient with IAD due to a novel TBX19 gene mutation, who is also of tall stature. 30747411 2019
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 Biomarker disease BEFREE In conclusion, TBX19 gene analysis must be performed if adrenal insufficiency is associated with isolated ACTH deficiency. 29858850 2018
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GeneticVariation disease BEFREE However, we found a TPIT mutation in 65% of patients with neonatal-onset complete IAD. 22170728 2012
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 Biomarker disease GENOMICS_ENGLAND However, we found a TPIT mutation in 65% of patients with neonatal-onset complete IAD. 22170728 2012
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GeneticVariation disease BEFREE The methionine 86 arginine (M86R) TPIT mutation was recently identified in compound heterozygosity with the 782delA frame-shift mutation in two siblings with early-onset IAD. 17652218 2007
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 Biomarker disease CTD_human Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. 16390921 2006
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GeneticVariation disease BEFREE We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). 15613420 2005
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GermlineCausalMutation disease ORPHANET We compared the clinical and biological phenotype of the 17 IAD patients carrying a TPIT mutation with the 10 IAD patients with normal TPIT-coding sequences. 15613420 2005
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GeneticVariation disease BEFREE Here we report the screening of the TPIT gene in seven patients with IAD, four of whom had neonatal onset. 15476446 2004
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GermlineCausalMutation disease ORPHANET Here we report the screening of the TPIT gene in seven patients with IAD, four of whom had neonatal onset. 15476446 2004
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 Biomarker disease GENOMICS_ENGLAND We demonstrated that human TPIT gene mutations cause a neonatal onset form of IAD (8/11), but not juvenile forms of this deficiency (0/6). 15525497 2004
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 GeneticVariation disease UNIPROT A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 11290323 2001
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		0.760 CausalMutation disease CLINVAR