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: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE Subsequent endocrine assessment with a synthetic adrenocorticotropin hormone (ACTH) stimulation test and measurement of ACTH levels revealed primary adrenal insufficiency also known as Morbus Addison. 30850564 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE Two were diagnosed as having isolated adrenocorticotropic hormone (ACTH) deficiency and one was diagnosed as having primary adrenal insufficiency. 31235078 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE In both groups, none of the patients who had sufficient preoperative ACTH without hydrocortisone supplementation (n=15) showed hypocortisolism in the immediate postoperative measurement. 31453876 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE Evaluation revealed low-serum cortisol with elevated adrenocorticotropic hormone and direct renin level confirming primary adrenal insufficiency. 31289154 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE Moreover, six of 10 patients had a blunted cortisol response after ACTH stimulation, thus confirming the diagnosis of primary adrenal insufficiency (PAI). 30383218 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 GeneticVariation disease BEFREE Rare mutations in the POMC gene can lead to ACTH deficiency and thus isolated hypocortisolism. 29858905 2018
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE AA = anti-adrenal auto-antibodies; Ab = antibodies; ACA = AA detected by immunofluorescence; ACTH = adrenocorticotropic hormone; AD = Addison disease; AI = adrenal insufficiency; DHEA = dehydroepiandrosterone; GC = glucocorticoid; IFA = immunofluorescence assay; LAI = latent AI; LDT = low-dose test; MC = mineralocorticoid; 21OHAb = anti-21-hydroxylase Ab; ST = standard test; URI = upper respiratory infection. 30084678 2018
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE The diagnostic process of primary adrenal insufficiency includes demonstration of low cortisol concentrations along with high plasma ACTH and identifying the cause of the disorder. 30086866 2018
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 GeneticVariation disease BEFREE Congenital adrenal hyperplasia accounts for most cases of PAI in childhood, followed by abnormalities in the development of the adrenal gland, resistance to adrenocorticotropin hormone action and adrenal destruction. 29280740 2017
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE The observation of lower ACTH levels in patients with ACC than that in patients with PAI, both in basal conditions and after CRH stimulation, suggests that mitotane may play an inhibitory effect on ACTH secretion at the pituitary levels. 28780517 2017
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE The models of (i) 1-mg DST >138 nmol/l or (ii) >61 nmol/l with the presence of one among low levels of ACTH and dehydroepiandrosterone-sulphate had the highest accuracy (89·9%, P < 0·001) and odds ratio [OR 111·62, 95% confidence interval (CI) 21·98-566·74, P < 0·001] for predicting postsurgical hypocortisolism. 27341314 2017
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE Reduction in pituitary tumour volume and brisk fall in serum prolactin in response to low-dose cabergoline is regularly observed in patients with macroprolactinomas, but the concurrent fall in the plasma ACTH level and hypocortisolism was a pleasant surprise. 28784879 2017
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE In addition to the patient's clinical symptoms and laboratory results, the results from ACTH and corticotropin-releasing hormone stimulation tests were used to make a diagnosis of primary adrenal insufficiency. 29390437 2017
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE To test the hypothesis that corticosterone effectively suppresses adrenocorticotropic hormone (ACTH) without the metabolic adverse effects of cortisol, we infused cortisol or corticosterone in patients with Addison's disease. 27535620 2016
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 GeneticVariation disease BEFREE Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from the lack of the proopiomelanocortin-derived peptides melanocyte-stimulating hormone and corticotropin. 27468060 2016
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE Plasma cortisol, 17OH-progesterone, DHEA-S, androstendione and aldosterone were low, while ACTH and plasma renin activity were elevated, consistent with the diagnosis of primary adrenal insufficiency. 23859637 2014
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE Patients typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), achalasia of the cardia, and defective tear formation (alacrima). 23073554 2013
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 GeneticVariation disease BEFREE We investigated the impact of glucocorticoid receptor gene polymorphisms, including the BclI, N363S and ER22/23EK variants, on anthropometric parameters (BMI and waist circumference), metabolic profile (HOMA, OGTT and serum lipids) and ACTH levels in 50 patients with Addison's disease (34 women and 16 men, age 20-82 year) under glucocorticoids replacement. 22587831 2012
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE On laboratory testing, severely depressed concentrations of morning cortisol, along with highly elevated values of adrenocorticotropic hormone (ACTH) revealed primary adrenal insufficiency as the primary cause of the patient's symptomatology. 22753300 2010
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE Based on the clinical features and laboratory findings (the overgrowth syndrome, red hair, hypoglycemia and hypocortisolism) the patient was diagnosed as POMC deficiency and the diagnosis was confirmed by genetic studies. 19998238 2010
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE Hypocortisolism and alteration of pigmentation are caused by the lack of POMC-derived peptides at the adrenal MC2 receptor and the skin MC1 receptor, respectively. 14557433 2003
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 Biomarker disease BEFREE Unilateral adrenalectomy was followed by hypocortisolism with loss of steroidogenic responses to both food and ACTH. 9745416 1998
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 AlteredExpression disease BEFREE After an intravenous injection of 5 microg DDAVP, plasma ACTH levels increased to more than 200% of the basal levels in 10 of 10 patients with Cushing's disease, but remained less than 150% in all of 11 normal subjects, 3 patients with Addison's disease, 5 cases of Cushing's disease in remission, and 3 patients with ectopic ACTH syndrome. 9466324 1997
CUI: C0001403
Disease: Addison Disease
Addison Disease
0.100 GeneticVariation disease BEFREE The syndrome of familial adrenocorticotropin (ACTH) unresponsiveness is a rare form of primary adrenal insufficiency, usually without mineralocorticoid deficiency. 7758515 1995