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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
ACTH Deficiency, Isolated
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations of the TBX19 causing isolated CAI are rare but a number of genes encoding transcription factors involved in hypothalamic-pituitary gland development, as well as other genes including POMC and PC1, are associated with ACTH deficiency.
|
30086867 |
2018 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
Among 22 independent patients from the GENHYPOPIT network who had ACTH deficiency and no identified mutation of TPIT, three of them (13.6%) displayed common variable immunodeficiency (CVID), characterized by defective Ig production.
|
22013103 |
2012 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
|
15613420 |
2005 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
|
15476446 |
2004 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.620 |
Biomarker
|
disease |
MGD |
Tpit determines alternate fates during pituitary cell differentiation.
|
12651892 |
2003 |
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
|
0.620 |
Biomarker
|
disease |
HPO |
|
|
|
Alcohol Use Disorder
|
0.300 |
Biomarker
|
disease |
CTD_human |
Substance dependence low-density whole genome association study in two distinct American populations.
|
18438686 |
2008 |
Alcoholic Intoxication, Chronic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Substance dependence low-density whole genome association study in two distinct American populations.
|
18438686 |
2008 |
Alcohol abuse
|
0.300 |
Biomarker
|
disease |
CTD_human |
Substance dependence low-density whole genome association study in two distinct American populations.
|
18438686 |
2008 |
Mental Depression
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Similarly, we recently discovered that genetic variation in components of the stress-related hypothalamic pituitary adrenocortical axis, T-box 19 and corticotropin releasing hormone receptor 1, showed association and linkage to high anger/hostility in and male depression the suicidal offspring, respectively.
|
17585962 |
2007 |
Depressive disorder
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Similarly, we recently discovered that genetic variation in components of the stress-related hypothalamic pituitary adrenocortical axis, T-box 19 and corticotropin releasing hormone receptor 1, showed association and linkage to high anger/hostility in and male depression the suicidal offspring, respectively.
|
17585962 |
2007 |
Neonatal hypoglycemia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation.
|
29858850 |
2018 |