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Glucocorticoid deficiency can be caused by inherited genetic disorders that affect the production of cortisol in the adrenal glands, such as familial glucocorticoid deficiency (FGD). [3] FGD is a group of monogenic recessive disorders caused by disease-causing variants in genes involved in cortisol biosynthesis. [ 4 ]
Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type.
The mutations in the MRAP gene caused the congenital disorder familial glucocorticoid deficiency type 2 (FGD-2). FGD-2 is an autosomal recessive disease with early childhood onset of recurrent infections, hypoglycaemia, skin hyperpigmentation, and failure to thrive due to low glucocorticoids levels. If left untreated, it could be fatal.
229004 Ensembl ENSG00000101216 ENSMUSG00000038705 UniProt Q9UKD1 P58929 RefSeq (mRNA) NM_012384 NM_198169 RefSeq (protein) NP_036516 NP_937812 Location (UCSC) Chr 20: 63.59 – 63.63 Mb Chr 2: 180.89 – 180.93 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glucocorticoid modulatory element-binding protein 2 is a protein that in humans is encoded by the GMEB2 gene. This gene is a ...
As current glucocorticoid therapy regiments fail to replicate the physiologic circadian rhythm and the glucocorticoids are often administered at a higher dose to treat androgen excess, the long-term consequences of the therapy, such as decreased bone density and an increased cardiometabolic risk profile, [99] should be addressed; other ...
11-Deoxycortisol in mammals has limited glucocorticoid activity, but it is the direct precursor of the major mammalian glucocorticoid, cortisol. [15] As a result, the level of 11-deoxycortisol is measured to diagnose impaired cortisol synthesis, to find out the enzyme deficiency that causes impairment along the pathway to cortisol, and to differentiate adrenal disorders.
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The glucocorticoid receptor (GR or GCR) also known as NR3C1 (nuclear receptor subfamily 3, group C, member 1) is the receptor to which cortisol and other glucocorticoids bind. The GR is expressed in almost every cell in the body and regulates genes controlling the development , metabolism , and immune response .