POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
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
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Additional biochemistry confirmed adrenocorticotropic hormone-independent hypercortisolism. 31492730 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE The neurosurgical resection of her 2 mm adrenocorticotropic hormone (ACTH) secreting pituitary microadenoma resulted in a successful resolution of the patient's hypercortisolism and a significant recovery of her neurocognitive function. 31253144 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE All patients had suppressed 8 am adrenocorticotropic hormone (ACTH) (<10 pg/mL) despite evidence of hypercortisolism. 30875328 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE A mono-centric and longitudinal study was conducted on 19 consecutive patients who underwent SBA for ACTH-dependent hypercortisolism between December 2003 and December 2017. 31583577 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Cushing's disease (CD) is a rare condition caused by adrenocorticotropic hormone (ACTH)-producing adenomas of the pituitary, which lead to hypercortisolism that is associated with high morbidity and mortality. 31717455 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE A retrospective analysis of ten consecutive patients with ACTH-independent hypercortisolism who underwent AVS at our institution between 2009 and 2017. 31440949 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Adrenal functional autonomy has been described in a subset of patients with CD, leading to the hypothesis of transition from ACTH-dependent to ACTH-independent hypercortisolism. 31276155 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Endocrine evaluation confirmed active acromegaly and revealed adrenocorticotropin hormone-dependent hypercortisolemia. 31505284 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE It has been thought that inhibition of a glucocorticoid positive-feedback loop is associated with remission of hypercortisolism in ACTH-dependent cyclic Cushing syndrome. 30561712 2019
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE The Role of Cortisol/ACTH Ratio for Screening of Subclinical Hypercortisolism in Patients with Adrenal Incidentalomas. 28931176 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE High-dose Dexamethasone suppression testing suggested ACTH-dependent ectopic hypercortisolism. 29755405 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
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
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
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
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
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
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
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
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 AlteredExpression phenotype BEFREE The clinical features of hypercortisolism result from elevated levels of adrenocorticotropic hormone produced by a tumor. 30036246 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
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
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 AlteredExpression phenotype BEFREE Biochemical testing confirmed hypercortisolism with extremely elevated levels of plasma adrenocorticotropin, urinary cortisol and multiple steroids of a plasma panel that were all normal at previous testing. 28937294 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE OBJECTIVE Cushing disease is caused by a pituitary micro- or macroadenoma that hypersecretes adrenocorticotropic hormone (ACTH), resulting in hypercortisolemia. 29027854 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 GeneticVariation phenotype BEFREE Cushing's disease results from corticotroph adenomas of the pituitary that hypersecrete adrenocorticotropin (ACTH), leading to excess glucocorticoid and hypercortisolism. 30093687 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Endocrinological investigation confirmed severe hypercortisolism along with elevated plasma adrenocorticotropin hormone (ACTH). 29921267 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Effect of hypercortisolism on bone mineral density and bone metabolism: A potential protective effect of adrenocorticotropic hormone in patients with Cushing's disease. 28851260 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE For our study, we compared patients with ACTH-independent hypercortisolaemia (n = 25) with those with Cushing's syndrome (n = 19). 29952409 2018
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
0.100 Biomarker phenotype BEFREE Most of these patients shared the following features of CS: skin thinning, severe hypercortisolemia (24-hour urinary free cortisol ≥10 times the upper limit of normal), ectopic secretion of ACTH, and severe hypokalemia. 29846662 2018