POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: ACTH Syndrome, Ectopic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE De-differentiation may therefore explain the mechanism underlying the negative correlation between immunoreactivity for ACTH in EAS and disease aggressiveness. 30918166 2019
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE This is the first case of ectopic ACTH syndrome associated with an ONB that acquired the ability to express ACTH during its clinical course as shown by serial immunohistochemical examinations. 30392451 2018
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE Spontaneous adrenocorticotropic hormone (ACTH) normalisation due to tumour regression induced by metyrapone in a patient with ectopic ACTH syndrome: case report and literature review. 29587720 2018
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE These data suggested a possibility that SCLC secreted ACTH and caused EAS in this patient. 30232300 2018
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE The review finishes with a cautionary note with regard to the misdiagnosis of the ectopic ACTH syndrome in which partial processing of ACTH can result in large concentrations of α-MSH and CLIP, which can interfere in the performance of two-site immunoassays, and the problem of the correct disulphide bridge arrangement in synthetic N-POMC peptides is also discussed. 26643914 2016
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE To determine the effects of GR expression in vivo, we characterized a mouse SCLC xenograft model that secretes ACTH precursor peptides, and so drives high circulating corticosterone concentrations (analogous to the ectopic ACTH syndrome). 20015838 2010
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE ACTH-dependent Cushing's syndrome is due to ACTH overproduction originating from a pituitary corticotroph adenoma (Cushing's disease) or from ectopic tumors (ectopic ACTH syndrome). 18075284 2007
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE ACTH is frequently produced in non-pituitary tumours, leading to the ectopic-ACTH syndrome, but the molecular mechanisms of its expression remain obscure. 16382005 2006
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE It is concluded that hypomethylation of the POMC promoter in thymic carcinoids correlates with POMC overexpression and the ectopic ACTH syndrome. 15845926 2005
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE Pro-opiomelanocortin expression in a metastatic breast carcinoma with ectopic ACTH secretion. 15239795 2005
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE Following desmopressin administration there was an overlap of the percent F and ACTH responses among patients with CD and EAS, and the area under the ROC curve for both these responses was not significantly different than that occurring by chance. 11932296 2002
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE This report suggests that lymphocytes in thymic hyperplasia are the most likely site of deregulated ACTH expression causing ectopic ACTH syndrome. 11075732 2000
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE Recently it was shown that patients with pituitary corticotrope adenomas respond to GHS with a dramatic rise in ACTH secretion, and it has been suggested that GHS may provide a diagnostic tool to differentiate Cushing's disease from the ectopic ACTH syndrome. 9437242 1997
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE In conclusion, the DDAVP stimulation test, i.e., determination of plasma ACTH levels after 5 microg DDAVP injection, seems useful for discriminating Cushing's disease from normality, and may serve to facilitate the differentiation between Cushing's disease and ectopic ACTH syndrome. 9466324 1997
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE Altogether, our results provide evidence that DMS-79 is a valid model of tumors responsible for the ectopic ACTH syndrome and that the mechanism of POMC gene expression in these SCLC cells is different from that in pituitary cells. 8800643 1995
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease CTD_human Colonic adenocarcinoma associated ectopic ACTH secretion: a case history. 8562174 1995
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease BEFREE In studying the peptides secreted by the extra-pituitary tumours responsible for the ectopic ACTH syndrome it would appear that direct measurement of ACTH precursors and comparison with the circulating concentrations of ACTH can give valuable information on the percentage of tumours which do not effectively process the ACTH precursors. 8396510 1993
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease CTD_human Ectopic ACTH-producing adenocarcinoma of the stomach. 1459535 1992
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 AlteredExpression disease BEFREE We studied the mechanism of POMC gene expression in human nonpituitary tumors that is responsible for the ectopic ACTH syndrome. 2536890 1989
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
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
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease CTD_human Ectopic ACTH syndrome due to Grawitz tumor. 2844640 1988
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		0.400 Biomarker disease CTD_human Cushing's syndrome secondary to ACTH-secreting Wilms' tumor. 4367732 1974