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: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Retrospective chart review of 75 hypertensive adults cured of CS (72 with ACTH-dependent CS; 3 with adrenal adenoma). 31721265 2020
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE During investigation, an adrenocorticotropic hormone (ACTH) independent CS was identified and the possibility of an adrenocortical tumor was suggested. 30699069 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 GeneticVariation disease BEFREE It is uncertain whether thymic neuroendocrine tumors (NET) associated with Cushing's syndrome (CS) produce corticotropin-releasing hormone (CRH) and adrenocorticotropin hormone (ACTH) and whether the thymus contains ACTH and/or CRH cells that could originate NET. 30502716 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE A diagnosis of ectopic ACTH-dependent CS was made. 28862247 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 AlteredExpression disease BEFREE Preoperatively, incidentalomas + SH patients had larger tumors, higher ACTH, and DHEA-S but lower dexamethasone-suppressed serum cortisol levels than those with CS. 30259310 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Investigations demonstrated adrenocorticotropic hormone-independent Cushing's syndrome with bilateral adrenal gland enlargement. 31362300 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE The management of patients with adrenocorticotropic hormone-independent Cushing's syndrome and bilateral adrenal masses is challenging. 31467526 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 GeneticVariation disease BEFREE Sixty-three (24.8%) tumors produced ACTH and 11 of them (17.4%), representing 4.3% of the whole series, were associated with Cushing syndrome. 31264037 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE ACTH = adrenocorticotropic hormone; CS = Cushing syndrome; CT = computed tomography; DHEAS = dehydroepiandrosterone sulfate; HU = Hounsfield units; MRI = magnetic resonance imaging; UFC = urinary free cortisol. 30817193 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Localization of ectopic ACTH-secreting tumours causing Cushing syndrome (ECS) is essential for clinical management, yet often difficult. 31066920 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Conclusions PPNAD is a rare cause of ACTH-independent CS in childhood and may signal underlying CNC. 30875328 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Bilateral adrenocortical adenomas causing adrenocorticotropic hormone-independent Cushing's syndrome: A case report and review of the literature. 31119141 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE We observed a case of ACTH-dependent cyclic Cushing syndrome that was developed by exogenous glucocorticoids, possibly through a glucocorticoid positive-feedback loop. 30561712 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE SCLC-associated diabetes was related to EAS, which was an endogenous ACTH-dependent form of Cushing's syndrome with elevated ACTH and cortisol levels. 31183355 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE A bilateral inferior petrosal sinus sampling (BIPSS) performed during a trough phase was false positive for pituitary ACTH overproduction resulting in unnecessary transsphenoidal surgery while a second BIPSS performed during an active phase was indicative for ectopic CS. 31640675 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE We describe a patient with florid Cushing syndrome due to ectopic adrenocorticotropic hormone (ACTH) from a NET of colonic origin. 30314823 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE According to the role of adrenocorticotropic hormone (ACTH) in adrenal androgen secretion, it is not surprising that the levels of dehydroepiandrosterone, dehydroepiandrosterone-sulfate, and androstenedione (A4) are generally elevated or in the upper normal range in patients with ACTH-dependent CS. 31499501 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Surgical intervention, aimed at removing the source of cortisol or adrenocorticotropic hormone (ACTH), is the optimal treatment in most cases of Cushing's syndrome. 30800267 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE All patients with CS had hormone test including morning plasma-free cortisol, 24-hour urine-free cortisol (24UFC), and plasma adrenocorticotropic hormone. 29266048 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Cushing's signs and serum cortisol at 16.2 µg/dL with undetectable adrenocorticotropic hormone indicated adrenal Cushing's syndrome. 30880999 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE A markedly elevated serum cortisol, ACTH and urine free cortisol production supported the diagnosis of CS. 30115708 2018
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 GeneticVariation disease BEFREE Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. 29279458 2018
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE ACTH-secreting pulmonary carcinoids, like the corticotroph adenomas causing Cushing's disease, are often small and difficult to detect, and patients present with a gradual onset of the classical signs and symptoms of Cushing's syndrome, indistinguishable from the presentation of Cushing's disease. 29754641 2018
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE Her physical examination and biochemical assessment revealed adrenocorticotropic hormone-independent Cushing syndrome. 29161416 2018
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
0.100 Biomarker disease BEFREE For our study, we compared patients with ACTH-independent hypercortisolaemia (n = 25) with those with Cushing's syndrome (n = 19). 29952409 2018