|
Congenital Hypothyroidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hypoglycemic coma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lipodystrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Precocious Puberty
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Quadriplegia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Recurrent urinary tract infection
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hypoglycemic seizures
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Lipoatrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Hypernatriuria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Leydig cell neoplasia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Testicular adrenal rest tumor
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
GLUCOCORTICOID DEFICIENCY 5
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
|
24601690 |
2014 |
|
Keratoderma, Palmoplantar
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone, is linked to mutations in the thyroid hormone receptor-beta (TR beta) gene.
|
7593433 |
1995 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Unlike the TR beta gene, a mutation in the TR alpha1 gene has never been found in patients with resistance to thyroid hormone (RTH).
|
9685218 |
1998 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
In particular, the application of 3,3',5-triiodothyroacetic acid (Triac) in RTH due to defective TRβ and the role of 3,5-diiodothyropropionic acid (DITPA), 3,3',5,5'-tetraiodothyroacetic acid (Tetrac) and Triac in MCT8 deficiency will be highlighted.
|
28235578 |
2017 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta) gene that impair T3-mediated function.
|
8954015 |
1996 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
The role of the TRβ was studied in cells from patients with resistance to thyroid hormone (RTH).
|
20827662 |
2011 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ligand-binding domain of the thyroid hormone receptor beta (TR beta) gene cause the syndrome of resistance to thyroid hormone (RTH).
|
8529109 |
1995 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since similar mutations have been identified in tri-iodothyronine (T3) receptor (TR) beta gene in GRTH and PRTH, and since considerable overlap has been seen in the clinical manifestations in patients with GRTH and PRTH, two subtypes of RTH are now considered to be a continuous spectrum with the same genetic defect.
|
8958790 |
1996 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TRβ gene mutation is not always correlated with the RTH phenotype.
|
25502991 |
2015 |
|
Generalized Thyroid Hormone Resistance
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by hyposensitivity to thyroid hormone caused by mutations in the thyroid hormone receptor-beta (TR beta) gene.
|
8838149 |
1996 |