POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Adrenal hyperplasia, bilateral ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2062372
Disease: Adrenal hyperplasia, bilateral
Adrenal hyperplasia, bilateral 		0.040 AlteredExpression disease BEFREE Hypergonadotropic hypogonadism profile was observed: decreased cortisol and dehydroepiandrosterone sulfate (DHEAS), increased adrenocorticotropic hormone (ACTH) and normal levels of 17-hydroxyprogesterone, extremely high deoxycorticosterone (DOC) levels, and a tomography showed bilateral adrenal hyperplasia in both sisters. 31464148 2020
CUI: C2062372
Disease: Adrenal hyperplasia, bilateral
Adrenal hyperplasia, bilateral 		0.040 Biomarker disease BEFREE One of the clinical manifestations of this rare endocrine condition is bilateral adrenal hyperplasia due to compensatory elevations of plasma ACTH concentrations. 30006372 2018
CUI: C2062372
Disease: Adrenal hyperplasia, bilateral
Adrenal hyperplasia, bilateral 		0.040 AlteredExpression disease BEFREE Expression of vasopressin receptors in ACTH-independent macronodular bilateral adrenal hyperplasia causing Cushing's syndrome: molecular, immunohistochemical and pharmacological correlates. 18180312 2008
CUI: C2062372
Disease: Adrenal hyperplasia, bilateral
Adrenal hyperplasia, bilateral 		0.040 Biomarker disease BEFREE We present in vivo and in vitro data of two patients with a LH-responsive Cushing's syndrome based on ACTH-independent bilateral adrenal hyperplasia. 12519858 2003