POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: Familial glucocorticoid deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 GeneticVariation disease BEFREE Hereditary adrenocorticotropin (ACTH) resistance syndromes encompass the genetically heterogeneous isolated or Familial Glucocorticoid Deficiency (FGD) and the distinct clinical entity known as Triple A syndrome. 30817990 2019
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 GeneticVariation disease BEFREE The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial glucocorticoid deficiency (FGD). 29678289 2018
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 AlteredExpression disease BEFREE Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low levels of cortisol despite high adrenocorticotropin (ACTH) levels, due to the reduced ability of the adrenal cortex to produce cortisol in response to stimulation by ACTH. 26548497 2015
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency (FGD), a rare autosomal recessive disorder of insensitivity to adrenocorticotropic hormone (ACTH), is characterized by isolated glucocorticoid deficiency and preserved mineralocorticoid production. 24224542 2014
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency (FGD) is a heterogeneous condition of isolated glucocorticoid deficiency due to adrenocorticotropic hormone (ACTH) resistance. 23708259 2013
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial Glucocorticoid deficiency (FGD), in which the adrenal cortex fails to produce glucocorticoids, was first shown to be caused by defects in the receptor for ACTH (MC2R) or its accessory protein (MRAP). 23279877 2013
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid secretion. 21701219 2011
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 GeneticVariation disease BEFREE Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. 21274326 2010
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. 19500760 2009
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. 19795005 2009
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. 19773404 2009
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. 18059087 2008
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by unresponsiveness to ACTH. 18492762 2008
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 GeneticVariation disease BEFREE Familial glucocorticoid deficiency (FGD) and triple A syndrome belong to a rare group of autosomal recessive disorders characterized by adrenocorticotropin (ACTH) insensitivity. 18493136 2008
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Inherited adrenocorticotropin (ACTH) resistance diseases are rare and include triple A syndrome and familial glucocorticoid deficiency (FGD). 17161331 2006
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. 15673970 2005
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 AlteredExpression disease BEFREE Familial glucocorticoid deficiency (FGD) or unresponsiveness to ACTH at the receptor level is a rare autosomal recessive hereditary syndrome characterized by a low cortisol level despite high serum ACTH concentration.Aldosterone levels are normal. 11592568 2002
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 GeneticVariation disease BEFREE Inactivating mutations of the ACTH receptor lead to the familial glucocorticoid deficiency (FGD) syndrome, a rare recessive autosomal disorder characterized by degeneration of the zona fasciculata/reticularis and unresponsiveness to exogenous ACTH. 9167964 1997
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE ACTH is proposed inducer of adrenarche so patients with ACTH resistance due to be familial glucocorticoid deficiency syndrome provide a model to clarify the degree to which ACTH is involved in the regulation of adrenal androgen secretion during adrenarche. 9196605 1997
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 Biomarker disease BEFREE Familial glucocorticoid deficiency is a rare autosomal recessive disease characterised by resistance to the action of ACTH. 9231879 1997
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 GeneticVariation disease BEFREE Familial glucocorticoid deficiency (FGD) is an autosomal recessive syndrome of failure of adrenal cortisol responsiveness to adrenocorticotropin (ACTH). 8069303 1994
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		0.100 AlteredExpression disease BEFREE The diagnosis of familial glucocorticoid deficiency (hereditary adrenocortical unresponsiveness) was confirmed by the absence of electrolyte imbalance even on a low sodium diet, and by very high levels of ACTH in plasma. 238474 1975