|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Adrenocorticotropic hormone (ACTH)-secreting tumors account for 2% to 6% of adenomas and are associated with obesity, hypertension, diabetes, and other morbidity.
|
28170483 |
2017 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The decreased response to alpha-MSH due to the intracellular retention of MC4R may cause early-onset obesity in the F261S pedigree of Chinese.
|
18837289 |
2008 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Therefore, these common variants in PCSK1 and POMC were not the major cause of obesity in the Thai subjects sampled.
|
26345846 |
2015 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Risk of substance dependence (SD) and obesity has been linked to the function of melanocortin peptides encoded by the proopiomelanocortin gene (POMC).
|
23028917 |
2012 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This variable expressivity of MC4-R-associated obesity is not due to variations in genes for alpha-MSH or AGRP.
|
10903341 |
2000 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Melanocortin-4 receptor gene (MC4R) variants are associated with obesity and binge eating disorder (BED), whereas the more prevalent proopiomelanocortin (POMC) and leptin receptor gene (LEPR) mutations are rarely associated with obesity or BED.
|
15585384 |
2004 |
|
Depressive disorder
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
The following search items were used: "hypothalamic-pituitary-adrenal" OR "HPA" OR "cortisol" OR "corticotropin releasing hormone" OR "corticotropin releasing factor" OR "glucocorticoid*" OR "adrenocorticotropic hormone" OR "ACTH" AND "atypical depression" OR "non-atypical depression" OR "melancholic depression" OR "non-melancholic depression" OR "endogenous depression" OR "endogenomorphic depression" OR "non-endogenous depression".
|
29150144 |
2018 |
|
Depressive disorder
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
MDD patients carrying the depression-associated AA genotype showed enhanced maximum and area under the curve ACTH and cortisol answers (p = 0.03) as well as an impaired memory and impaired sustained attention performance (p = 0.04) compared to carriers of at least one G allele.
|
22475622 |
2013 |
|
Cholestasis
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel heterozygous nonsense mutation (c.2764T>C, Glu922Ter) in a case of PSIS without HPE who presented with neonatal hypoglycemia and cholestasis associated with GH, TSH, and ACTH deficiencies.
|
26529631 |
2016 |
|
ACTH Syndrome, Ectopic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Immunoreactive (IR) POMC peptides have been detected in several human nonpituitary tissues and most pheochromocytomas and lung cancers, including those not associated with ectopic ACTH syndrome.
|
2845257 |
1988 |
|
Alcoholic Intoxication, Chronic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, we found a two-marker haplotype in the POMC gene that was associated with alcohol dependence in females in both cohorts.
|
18589403 |
2008 |
|
Alcoholic Intoxication, Chronic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analysed the DNA methylation of the 5' promoter of the POMC gene that is embedded in a CpG island using bisulfite sequencing in 145 alcohol-dependent patients and 37 healthy controls taken from the Franconian Alcoholism Research Studies.
|
20191296 |
2010 |
|
Alcoholic Intoxication, Chronic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Experimental evidence indicates that components of the hypothalamic-pituitary-adrenal (HPA) axis and of the endogenous opioid system, such as beta-endorphin (beta-END), influence alcohol consumption, whereas chronic alcohol abuse alters the activity of both systems.
|
12658106 |
2003 |
|
Alcoholic Intoxication, Chronic
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
OPRM1 A118G and serum β-endorphin interact with sex and digit ratio (2D:4D) to influence risk and course of alcohol dependence.
|
30322771 |
2018 |
|
Cushing Syndrome
|
0.400 |
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 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The cyclic AMP-dependent PKA catalytic subunit alpha (PRKACA) hotspot point mutation (c.617A > C [p.Leu206Arg]), leading to an increase of basal PKA activity, and formation of cortisol-producing adenoma has been frequently shown to cause the most common form of adrenocorticotropic hormone-independent Cushing syndrome.
|
25871963 |
2015 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cushing's disease results from corticotroph adenomas of the pituitary that hypersecrete adrenocorticotropin (ACTH), leading to excess glucocorticoid and hypercortisolism.
|
30093687 |
2018 |
|
Cushing Syndrome
|
0.400 |
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 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial Cushing's syndrome due to ACTH independent bilateral macronodular adrenocortical hyperplasia occurring in siblings is reported.
|
8706318 |
1996 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genomics studies have identified a key mutation (L205R) in the α-isoform of the catalytic subunit of cAMP-dependent protein kinase (PKACα) in adrenal adenomas of patients with adrenocorticotropic hormone-independent Cushing's syndrome.
|
29632813 |
2018 |
|
Cushing Syndrome
|
0.400 |
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 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl.
|
27879325 |
2017 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hypersecretion of adrenocorticotropin hormone (ACTH), the key activator of the cAMP pathway in adrenal cortex, is associated with adrenocortical hyperplasia and cortisol oversecretion (Cushing's syndrome).
|
12530696 |
2002 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A retrospective analysis of a series of 26 adrenocortical tumors responsible for Cushing's syndrome (19 adenomas and 7 carcinomas) showed that vasopressin (10 IU, i.m., lysine vasopressin) induced an ACTH-independent cortisol response (arbitrarily defined as a cortisol rise above baseline of 30 ng/mL or more) in 7 cases (27%).
|
9626135 |
1998 |
|
Cushing Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The primary treatment of Cushing disease (hypercortisolism due to ACTH-producing adenomas, which is the cause in approximately 65% of the cases of hypercortisolism) is adenoma resection and medical therapies including ketoconazole, mifepristone, and pasireotide.
|
28170483 |
2017 |