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: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE We hypothesized that they may interfere with mineralocorticoid signaling and fludrocortisone therapy in patients with congenital adrenal hyperplasia (CAH) without effective glucocorticoid replacement and ACTH suppression. 31821037 2020
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE A standard dose adrenocorticotropic hormone (ACTH) test revealed an inadequate cortisol response and high 17-hydroxy progesterone levels, suggesting simple virilising congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. 30074481 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE Adrenal steroid precursor concentrations before and 60 minutes after ACTH administration to 24 untreated patients with CAH (3 to 46 years) with proven cortisol deficiency (<500 nmol/L post-ACTH) measured by liquid chromatography-tandem mass spectrometry were compared with six control patients (Mann-Whitney U test). 31090904 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE Our study supports the importance of periodic US evaluation and maintenance of plasma ACTH levels within the normal range in men with CAH. 31214118 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE TART were not found by scrotal ultrasound in males up to 4 years of age with classical CAH despite settings with expected high ACTH drive. 31747670 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. 31501175 2019
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE A 23-year-old woman with CAH (21-hydroxyase deficiency) untreated for the past 5 years presented with a pelvic mass and elevated serum testosterone (1433 ng/dL) and plasma ACTH (1117 pg/mL). 29460643 2018
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals. 29880708 2018
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE To avoid giant CAH-associated adrenal myelolipomas in adults, it is important to identify CAH early so appropriate treatment can be initiated to interrupt the chronic adrenal hyperstimulation resulting from increased ACTH. 30352423 2018
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 GeneticVariation disease BEFREE Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing hormone (CRH) secretion. 28500827 2017
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE The low adrenal cortisol levels associated with CAH affects the hypothalamic-pituitary-adrenal negative feedback system leading to increased pituitary adrenocorticotropic hormone (ACTH) production, which overstimulates the adrenal cortex in an attempt to increase cortisol production resulting in a hyperplastic adrenal cortex. 27380651 2017
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE By reporting these cases we draw attention to the possibility that high levels of adrenal steroid precursors can cross react with aldosterone and cortisol, and underscore the significance of ACTH stimulated 17-OHP values in differentiating CAH and PHA. 29127765 2017
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE 17-OHP = 17-alpha-hydroxyprogesterone ACTH = adrenocorticotropic hormone BMI = body mass index CAH = congenital adrenal hyperplasia GH = growth hormone HPA = hypothalamus-pituitary-adrenal PRA = plasma renin activity SDS = standard deviation score SV = simple virilizing SW = salt-wasting. 28225306 2017
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE Interestingly, the bilateral giant myelolipoma associated with CAH that had high androgen and ACTH levels but lacked MC2R and AR overexpression presented a significantly shorter AR allele compared with other tumors. 24884994 2014
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. 24265530 2013
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE Diagnosis of classical CAH is confirmed by follow-up serum 17-hydroxyprogesterone and/or the adrenocorticotropin stimulation test; however, neither test definitively distinguishes between the classical subtypes. 21534945 2012
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE Traditional treatment of CAH consists of the suppression of ACTH through glucocorticoid replacement, in an attempt to reduce excessive androgen production. 21196707 2011
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE Basal and/or ACTH stimulated 17-hydroxyprogesterone (17OHP) values, > 5 ng/ml and >10 ng/ml, respectively are currently applied to diagnose NC-CAH. 16641859 2006
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE ACTH stimulation test is widely used as a basic diagnostic method for non-classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). 12605347 2003
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE In congenital adrenal hyperplasia (CAH), decreased production of cortisol leads to increased secretion of ACTH from the pituitary, resulting in hyperplasia of the adrenals. 10435060 1999
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE After ACTH testing, 13 out of the 32 (41%) cases displayed higher 17-hydroxyprogesterone (17-OHP) levels than normal but less than those found in patients affected by nonclassical adrenal hyperplasia (CAH); these levels were similar to those observed in obligate heterozygotes for CAH due to 21-hydroxylase deficiency (21-OHD). 9666866 1998
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE The ACTH-stimulated delta 5-17P levels and delta 5-17P/F ratios in the PP children without type II 3 beta HSD gene mutation were exceedingly lower than the respective reported hormonal data for children with 3 beta HSD deficiency CAH with proven type II 3 beta HSD gene mutation. 8923844 1996
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 Biomarker disease BEFREE The general feature of CAH, which results from an enzymatic block at any stage in the synthesis of cortisol, is increased serum adrenocorticotropin and thus stimulated adrenal synthesis of steroids proximal to the block. 1427638 1992
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 GeneticVariation disease BEFREE In addition, the iv ACTH stimulation test revealed that the mother and the other unaffected sibling also carried an allele for an attenuated form of CAH. 3007562 1986
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.100 AlteredExpression disease BEFREE Post-ACTH levels of 17 PO were significantly greater in type 2 responders than in obligate carriers of CAH. 3001309 1985