Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Silent corticotroph adenomas (SCAs) are characterized by strong ACTH immunostaining without clinical manifestations of hypercortisolism. 28528397 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Instead of consecutive hypothalamus-pituitary-adrenal axis activation, we report that acute SCI in mice induced suppression of serum norepinephrine and concomitant increase in cortisol, despite suppressed adrenocorticotropic hormone, indicating primary (adrenal) hypercortisolism. 28920935 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 GeneticVariation phenotype BEFREE Ectopic adrenocorticotropic hormone (ACTH) secretion is a less common cause of Cushing syndrome and is seen in 5 to 10% of cases with endogenous hypercortisolemia. 28614007 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 GeneticVariation phenotype BEFREE The primary treatment of Cushing disease (hypercortisolism due to ACTH-producing adenomas, which is the cause in approximately 65% of the cases of hypercortisolism) is adenoma resection and medical therapies including ketoconazole, mifepristone, and pasireotide. 28170483 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Interference in ACTH immunoassay negatively impacts the management of subclinical hypercortisolism. 28247312 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Thus, the diagnosis of ACTH independent hypercortisolaemia was established. 28277127 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Endogenous hypercortisolism (Cushing's syndrome) usually implies the presence of a pathologic condition caused by either an ACTH-secreting neoplasm or autonomous cortisol secretion from a benign or malignant adrenal neoplasm. 28179447 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE ACTH-dependent hypercortisolism caused by a pituitary adenoma [Cushing's disease (CD)] is the most common cause of endogenous Cushing's syndrome. 28382019 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Considering the cortisol responses to LHRH and hCG, and the development of CS during pregnancy in these patients, it is likely that ACTH-independent hypercortisolism was induced by the pregnancy-associated rise in hCG levels that activated aberrantly expressed LH receptors in the adrenal adenoma. 28819015 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Laboratory data confirmed ACTH-independent hypercortisolism. 28853111 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Cats respond differently to dogs to adrenal function tests including adrenocorticotropic hormone (ACTH) stimulation and dexamethasone suppression tests; a 10-fold higher dose of dexamethasone is recommended in cats to screen for HAC. 28838299 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 GeneticVariation phenotype BEFREE Consequently the cause of hypercortisolemia in AD, and therefore of association between AD and DM, is proposed to be adrenal hyper-responsiveness to adrenocorticotropic hormone. 28458232 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Common screening tests for adrenocorticotropin-independent hypercortisolism have substantial false-positive rates, mandating further time and resource-intensive investigations. 27797672 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Endocrinological examinations demonstrated ectopic ACTH production with hypercortisolemia and excess urinary cortisol accompanied by elevated plasma and urine catecholamines. 26700559 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Biological tests led to the diagnosis of ACTH-dependent hypercortisolism. 27255538 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE In each section, we endeavor to correlate basic mechanisms of ACTH function with the pathological consequences of ACTH signaling deficiency and of overproduction of ACTH. 26793988 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent hypercortisolism. 27699247 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Cushing disease is a neuroendocrine condition caused by partially glucocorticoid-resistant corticotroph adenomas that excessively secrete ACTH, which leads to hypercortisolism. 25665180 2015
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE BMAH, also known as adrenocorticotropic hormone (ACTH)-independent macronodular hyperplasia (AIMH), can cause Cushing syndrome or mild hypercortisolism. 25536975 2015
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Loss of glucocorticoid negative feedback on the hypothalamic-pituitary-adrenal axis leads to autonomous transcription of the corticotroph precursor hormone proopiomelanocortin (POMC), consequent ACTH overproduction, and adrenal hypercortisolism. 25942479 2015
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Complementarily, we characterized a patient with neurofibromatosis type I with macronodular adrenal hyperplasia with ACTH-independent cortisol overproduction. 25775093 2015
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Cushing's disease (CD) is a rare condition in which hypercortisolemia is secondary to excessive ACTH release from a pituitary corticotroph adenoma. 24926820 2014
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE These 8 PA/SCS patients were significantly older and had larger tumor, higher serum potassium levels, lower basal plasma levels of aldosterone, ACTH and DHEA-S as well as lower response of aldosterone after ACTH stimulation than those in 12 patients with aldosterone-producing adenoma without hypercortisolism. 21521926 2011
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE We conclude that a marked ACTH drive was able to override insufficient 21-hydroxylation and even to cause hypercortisolism. 21646730 2011
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE The aim of the study was to evaluate a 35-yr-old woman with ACTH-independent hypercortisolism associated with both micronodular adrenal hyperplasia and ectopic pararenal adrenocortical adenoma. 19915020 2010