POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.020 Biomarker disease BEFREE ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency. 28225307 2017
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.020 AlteredExpression disease BEFREE 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by impaired productions of gonadal steroids and cortisol, a subsequent elevation of adrenocorticotropic hormone, and accumulation of steroid precusors, which are shunted into the mineralocorticoid synthesis pathway. 22103881 2012