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: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE Bearing in mind the sample size of this audit, asymmetric IPS at least do not seem to diminish the accuracy of diagnosis of ACTH-dependent CS, nor do they influence the clinical outcome. 31228539 2019
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 GeneticVariation disease BEFREE Adrenocorticotropic hormone (ACTH)-secreting adenomas account for Cushing's disease (CD) which is the most common form of ACTH-dependent Cushing's syndrome (CS). 30488233 2019
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE However, in a substantial proportion of patients with ACTH-dependent Cushing's syndrome (CS), desmopressin elicits an ACTH and cortisol response, which contrasts with the minimal responses obtained in healthy subjects. 29472379 2018
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE Urinary FEr >1.15 was able to suggest EAS, with a diagnostic accuracy similar to that of other dynamic tests proposed to study ACTH-dependent CS. 28590513 2017
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE The patient was a 26-yr-old male with diagnosis of ACTH-dependent CS. 17556872 2007
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 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: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE The differential diagnosis of ACTH-dependent Cushing's syndrome in this case included pituitary disease or ectopic ACTH, either from medullary thyroid carcinoma or pheochromocytoma. 14557423 2003
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE These studies suggest that the POMC promoter may provide a useful gene therapy strategy for the adjunctive treatment of pituitary tumors causing ACTH-dependent Cushing's syndrome. 11443217 2001
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 Biomarker disease BEFREE Another factor stimulating adrenocortical cell growth and potentially associated with formation of adrenal adenomas and, less frequently, carcinomas is the chronic elevation of proopiomelanocortin-derived peptides in diseases like ACTH-dependent Cushing's syndrome and congenital adrenal hyperplasia. 7915195 1994
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome
0.100 AlteredExpression disease BEFREE Pro-opiomelanocortin mRNA size heterogeneity in ACTH-dependent Cushing's syndrome. 2765113 1989