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 The Role of Cortisol/ACTH Ratio for Screening of Subclinical Hypercortisolism in Patients with Adrenal Incidentalomas. 28931176 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 AlteredExpression phenotype BEFREE Compensatory elevations in circulating adrenocorticotropic hormone (ACTH) concentrations lead to increased production of adrenal steroids with mineralocorticoid and/or androgenic activity and their corresponding clinical manifestations, as well as increased urinary free-cortisol excretion in the absence of symptomatology suggestive of hypercortisolism. 15265781 2004
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE High-dose Dexamethasone suppression testing suggested ACTH-dependent ectopic hypercortisolism. 29755405 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Elevated serum cortisol level of 95.7 µg/dL (8.7-22.4 µg/dL) and markedly elevated 24-hour urinary cortisol level of 6962.3 µg/24 hours (4.0-50.0 µg/24 hours) with concurrent adrenocorticotropic hormone (ACTH) level of 171 pg/mL (6-58 pg/mL) were suggestive of an ACTH-dependent source of hypercortisolism. 29535093 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Because ACTH secretion by the pituitary tumor is not normally restrained ACTH is overproduced with subsequent chronic hypercortisolism. 1327071 1992
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 A glucocorticoid-driven positive-feedback regulation in this ectopic ACTH-secreting pheochromocytoma created a vicious cycle with rapid exacerbation of both hypercortisolemia and hypercatecholaminemia with extremely elevated plasma ACTH level. 29760304 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 AlteredExpression phenotype BEFREE The term ACTH-independent used to designate primary adrenal Cushing's syndrome may therefore be inappropriate in some cases of bilateral macronodular adrenal hyperplasia with hypercortisolism and undetectable plasma ACTH levels. 12843140 2003
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 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
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 AlteredExpression phenotype BEFREE In this regard, impaired adrenocortical function is likely induced by atrophy of the residual adrenal tissue as a result of chronic suppression by the low ACTH levels of the hypercortisolism state. 30915117 2019
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 AlteredExpression phenotype BEFREE A 49-year-old man with classic manifestations of Cushing's syndrome had undetectable levels of ACTH, lack of suppression of hypercortisolism with dexamethasone in doses of 2, 8, or 16 mg per day, bilaterally enlarged adrenal glands on MRI, and bilateral adrenal uptake of iodocholesterol. 8038906 1994
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE The aim of the study is to detect these receptors in two patients with ACTH-independent hypercortisolism by means of the application of a screening protocol. 29936051 2018
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 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 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 Biomarker phenotype BEFREE There were significantly fewer patients with hypercortisolism in the higher ACTH group; midnight serum cortisol levels were associated with hypercortisolism only in the lower ACTH group. 30414423 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 AlteredExpression phenotype BEFREE The clinical features of hypercortisolism result from elevated levels of adrenocorticotropic hormone produced by a tumor. 30036246 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE Primary pigmented nodular adrenocortical disease (PPNAD) is a rare but an interesting adrenocortical disorder associated with ACTH-independent hypercortisolism. 1542635 1992
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.100 Biomarker phenotype BEFREE ACTH independent bilateral macronodular adrenocortical hyperplasia (AIMAH) is associated with autonomous hypercortisolism. 8008746 1994
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 The participation of aberrant receptors and intra-adrenal ACTH in hyperplastic tissue are considered mechanisms that regulate hypercortisolism in PMAH. 28676429 2018
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 Cushing's disease (CD) is a rare condition in which hypercortisolemia is secondary to excessive ACTH release from a pituitary corticotroph adenoma. 24926820 2014