Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE Prevalence and features of growth disturbance will be discussed in ACTH-dependent and ACTH-independent Cushing's syndrome, adrenocortical tumours, premature adrenarche, congenital adrenal hyperplasia and adrenal insufficiency disorders. 31747461 2020
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 AlteredExpression disease BEFREE Undetectable ACTH and unsuppressed cortisol levels by dexamethasone suggested ACTH-independent Cushing's syndrome. 31208392 2019
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE On the basis of these findings, we hypothesized that the use of a glucocorticoid receptor (GR) antagonist before surgery in ACTH-independent CS would rapidly activate the hypothalamic-pituitary-adrenal (HPA) axis and residual adrenal function. 30915117 2019
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE Hormonal tests suggested the presence of adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome. 30911452 2019
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE Adrenal vein sampling (AVS) is a good way to diagnose ACTH-independent CS. 31119141 2019
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE AVS adjusted by plasma aldosterone could be a useful technique in diagnosing ACTH-independent CS with bilateral adrenal adenomas prior to surgery. 29685132 2018
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE This case reminds clinicians to be aware of ectopic site in the diagnosis of adrenocorticotropic hormone (ACTH) independent Cushing's syndrome. 30557981 2018
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE In-suite cortisol monitoring facilitates the use of adrenal vein sampling (AVS) for the differential diagnosis of primary aldosteronism and adrenocorticotropic hormone (ACTH)-independent Cushing syndrome. 29357735 2018
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker 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
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE The study included adult patients admitted for evaluation of suspected CS (n=85), that were divided into 3 groups: CD (n=22), ACTH-independent CS from an adrenal tumor/hyperplasia (adrenal CS, n=21), and a control group consisting of subjects with negative screening for CS (rule-out CS, n=42). 28226363 2017
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE We performed whole-exome sequencing of 49 blood-tumor pairs and RNA sequencing of 44 tumors from cortisol-producing adrenocortical adenomas (ACAs), adrenocorticotropic hormone-independent macronodular adrenocortical hyperplasias (AIMAHs), and adrenocortical oncocytomas (ADOs). 24700472 2014
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE The aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. 20924687 2011
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE She was found to have adrenocorticotropic hormone (ACTH)-independent Cushing syndrome. 19833579 2010
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 AlteredExpression disease BEFREE The ACTH MC2 receptor showed a low expression in 15 of 18 AIMAHs samples, whereas several previously undescribed GPCR genes were found highly expressed in a subset of AIMAH, such as the receptors for motilin (MLNR; three of 18 AIMAHs) and γ-aminobutyric acid (GABBR1; five of 18 AIMAHs), and the α2A adrenergic receptor (ADRA2A; 13 of 18 AIMAHs), on which we focused our attention. 20660048 2010
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). 16756677 2006
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE Chronic adrenal stimulation by ACTH in Cushing's disease or GIP in GIP-dependent ACTH-independent macronodular adrenal hyperplasia both lead to the induction of genes implicated in adrenal proliferation and steroidogenesis. 16772347 2006
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE AIMAH is a rare condition in which cortisol secretion may be mediated by non-ACTH circulating hormones such as gastric inhibiting polypeptide (leading to food-dependent Cushing's syndrome), vasopressin, catecholamines, luteinizing hormone, serotonin, angiotensin-II or leptin. 15666794 2004
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 AlteredExpression disease BEFREE ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an uncommon cause of Cushing's syndrome characterized by bilateral nodular adrenocortical hyperfunction in the presence of suppressed ACTH levels. 12727968 2003
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE A 45-year-old woman with adrenocorticotropin (ACTH)-independent hypercortisolism, diabetes mellitus, and hypertension had undergone left adrenalectomy for ACTH-independent Cushing's syndrome 20 years prior to this presentation. 12670039 2002
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 GeneticVariation disease BEFREE Control of cortisol secretion by the abnormal expression of the gastric inhibitory polypeptide receptor (GIP-R) have been observed in some rare cases of ACTH-independent, food-dependent Cushing's syndrome (FD-ACS) due to adrenal adenoma (AA) or bilateral macronodular hyperplasia (AIMAH). 11994328 2002
Acth-Independent Macronodular Adrenal Hyperplasia
0.100 Biomarker disease BEFREE Plasma ACTH and dexamethasone suppression test results were consistent with ACTH-independent Cushing's syndrome, and a subsequent adrenalectomy revealed bilateral adrenocorticonodular hyperplasia. 8077378 1994