POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Adrenocortical hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024719
Disease: Adrenocortical hypoplasia
Adrenocortical hypoplasia 		0.010 Biomarker disease BEFREE Adrenal differentiation seems to depend on adrenocorticotropic hormone (ACTH) stimulation and signalling, including biosynthesis and action of POMC, PC1, TPIT, MC2R, MRAP and ALADIN, all of which cause adrenocortical hypoplasia when mutated in humans. 18279781 2008