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: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Salivary cortisol levels by tandem mass spectrometry during high dose ACTH stimulation test for adrenal insufficiency in children. 31535345 2020
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE <b>ABSTRACT</b><b>Objective:</b> To evaluate the performance of morning serum cortisol (MSC) compared to a 10 μg ACTH stimulation test in the diagnosis of adrenal insufficiency (AI). 31461355 2020
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 AlteredExpression phenotype BEFREE Patients were divided into 3 groups according to the serum cortisol response to the rapid ACTH test; those with a peak serum cortisol level of <15 μg/dL were defined as the adrenal insufficiency (AI) probable group, ≥15 μg/dL and <18 μg/dL as the AI suspected group, and ≥18 μg/dL as the non-AI group. 31597820 2020
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE An ACTH stimulation test is the standard diagnostic test for adrenal insufficiency (AI). 31738804 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 GeneticVariation phenotype BEFREE We compared AI determination in cirrhotic patients with the ACTH test using these SaC thresholds versus established TSC thresholds (TSC-T<sub>0</sub>< 9 <i>μ</i>g/dl [248 nmol/L], TSC-T<sub>60</sub> < 18 <i>μ</i>g/dl [497 nmol/L], or ΔTSC<9 <i>μ</i>g/dl [248 nmol/L]).SaC correlated well with TSC. 31320899 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Primary AI is defined by the inability of the adrenal cortex to produce sufficient amounts of glucocorticoids and/or mineralocorticoids despite normal or increased adrenocorticotropin hormone (ACTH). 30120786 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Our systematic literature search revealed 9 studies (n = 371) that evaluated AI using adrenocorticotropic hormone stimulation testing, with measures of serum cortisol levels at baseline and following at least 2 weeks of TCS application. 30694073 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 AlteredExpression phenotype BEFREE It is important to recognize that relative adrenal insufficiency (AI) is the most common cause of low cortisol levels and failed ACTH challenge in ill patients. 31567142 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Postoperative ACTH stimulation testing to identify patients with AI. 31225874 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 GeneticVariation phenotype BEFREE In previous reports, most cases of immune checkpoint inhibitor (ICI)-induced hypophysitis were diagnosed based on adrenal insufficiency symptoms or hyponatremia with low ACTH and cortisol. 31217401 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE The subsequent evidence of low plasmatic and urinary cortisol and increased ACTH required the start of Hydrocortisone replacement therapy and it defined a clinical picture of adrenal insufficiency. 31164167 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 AlteredExpression phenotype BEFREE On an outpatient visit, serum ACTH and cortisol levels were normal despite the discontinuation of fludrocortisone and so the patient had been evaluated as partial adrenal insufficiency secondary to PD-related peritonitis. 31291617 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE The High Dose Adrenocorticotropic Hormone (ACTH) Stimulation Test is the gold standard to diagnose adrenal insufficiency. 29476665 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Despite widespread use of the 250-mcg Cosyntropin test (ACTH test) for the diagnosis of adrenal insufficiency (AI), the effect of time of day and the utility of performing both 30- and 60-min serum cortisol values remains unclear. 29458002 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 GeneticVariation phenotype BEFREE We investigated the potential role of measuring salivary cortisol when adrenal insufficiency (AI) is suspected, to reduce the numbers of ACTH stimulation tests. 29531158 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE The lack of pro-opiomelanocortin (POMC)-derived melanocortin peptides results in hypoadrenalism and severe obesity in both humans and rodents that is treatable with synthetic melanocortins. 30201275 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Adrenocorticotropic hormone (ACTH) stimulation test revealed 87 patients (24.23%) to have AI. 29806602 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 GeneticVariation phenotype BEFREE Mutations in the POMC gene were linked with a clinical phenotype of adrenal insufficiency, red hair pigmentation, early onset and rapidly progressive obesity, early onset type 2 diabetes, hypothyroidism, hypogonadism and growth hormone deficiency. 29858905 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE We describe here a case of pro-opiomelanocortin (POMC) deficiency in which adrenal insufficiency was not treated until the fourth year of life. 27906547 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 GeneticVariation phenotype BEFREE Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. 28915118 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Adrenal insufficiency is characterised by inadequate -glucocorticoid production owing to destruction of the adrenal cortex or lack of adrenocorticotropic hormone stimulation. 28572228 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE Triple A syndrome (AAAS) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and progressive neurodegeneration. 28395280 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE By protocol, the first group received steroids in step 3 of the treatment according to the current international guidelines (group A), and the second group was managed as group A and was tested for AI by adrenal stimulation test using intramuscular adrenocorticotropic hormone (cosyntropin) (group B). 27798546 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 AlteredExpression phenotype BEFREE Lipid depletion and reduced ACTH-regulated gene expression in prolonged critical illness suggest that sustained lack of ACTH may contribute to the risk of adrenal insufficiency in long-stay ICU patients. 25062464 2014
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.200 Biomarker phenotype BEFREE By using the 250-μg ACTH stimulation test, at least 39% and 23·5% were diagnosed with adrenal gland hypofunction in TD and NTD children, respectively. 23634994 2013