Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The syndrome is attributable to congenital deficiency of the enzyme 11 beta-hydroxydehydrogenase (11 beta-HSD), which converts cortisol (F) to biologically inactive cortisone.
|
8732999 |
1996 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of hypertension in which 11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) is defective.
|
8979285 |
1997 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The syndrome of AME is a rare form of juvenile hypertension in which 11-HSD is defective.
|
9034789 |
1997 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Congenital deficiency of 11β-HSD2 causes a form of salt-sensitive hypertension known as the syndrome of apparent mineralocorticoid excess.
|
28938454 |
2017 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD11B2 gene encoding the kidney (11-HSD2) isozyme of 11beta-hydroxysteroid dehydrogenase cause the syndrome of apparent mineralocorticoid excess, a form of salt-sensitive hypertension.
|
11196453 |
2000 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2) explain the syndrome of apparent mineralocorticoid excess where cortisol acts as a mineralocorticoid.
|
11916625 |
2002 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD11B2 gene cause the syndrome of apparent mineralocorticoid excess, an autosomal recessive form of inherited hypertension in which cortisol acts as a potent mineralocorticoid.
|
17035606 |
2006 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD11B2 gene (both exonic and intronic) have been demonstrated to cause reduced activity of this enzyme in the syndrome of apparent mineralocorticoid excess, a rare autosomal recessive disorder.
|
8794836 |
1996 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD11B2 gene have been found to cause the syndrome of apparent mineralocorticoid excess, a rare autosomal recessive disease characterized by severe hypertension.
|
9589699 |
1998 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, 11beta-HSD2 (HSD11B2), explain the molecular basis for the syndrome of apparent mineralocorticoid excess (AME), characterized by severe hypertension and hypokalemic alkalosis.
|
12860834 |
2003 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HSD11B2 gene encoding 11-HSD2 cause the syndrome of apparent mineralocorticoid excess, a severe form of familial hypertension.
|
29843121 |
2018 |
Trichohepatoenteric Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the gene encoding 11beta-HSD-2 are responsible for the syndrome of apparent mineralocorticoid excess, in which cortisol illicitly occupies mineralocorticoid receptors, causing hypertension and hypokalaemia.
|
9370341 |
1997 |
Trichohepatoenteric Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, in patients with congenital deficiency of 11 beta-HSD (the syndrome of apparent mineralocorticoid excess, AME), cortisol and not aldosterone acts as a mineralocorticoid, resulting in hypertension and hypokalaemia with suppression of the renin-angiotensin-aldosterone axis.
|
8538347 |
1996 |