H00256 | |
H number | H00256 |
Name | Familial glucocorticoid deficiency |
Description | Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including recurrent illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that FGD is caused by mutation of the ACTH receptor (MC2R) and the accessory protein (MRAP). |
Category | Endocrine and metabolic disease |
Network | nt06310(H00256) CRH-ACTH-cortisol signaling |
Gene | (FGD1) MC2R [HSA:4158] [KO:K04200] (FGD2) MRAP [HSA:56246] [KO:K22398] (FGD4) NNT [HSA:23530] [KO:K00323] (FGD5) TXNRD2 [HSA:10587] [KO:K22182] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | See also H00257 Achalasia-Addisonianism-Alacrima syndrome. |
Other DBs | ICD-11: 5A74.Y ICD-10: E27 MeSH: C565974 C564577 OMIM: 202200 607398 609197 614736 617825 |
Reference | PMID:18059087 AUTHORS Chan LF, Clark AJ, Metherell LA TITLE Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. JOURNAL Horm Res 69:75-82 (2008) DOI:10.1159/000111810 PMID:18493136 AUTHORS Cooray SN, Chan L, Metherell L, Storr H, Clark AJ TITLE Adrenocorticotropin resistance syndromes. JOURNAL Endocr Dev 13:99-116 (2008) DOI:10.1159/000134828 PMID:17161331 AUTHORS Metherell LA, Chan LF, Clark AJ TITLE The genetics of ACTH resistance syndromes. JOURNAL Best Pract Res Clin Endocrinol Metab 20:547-60 (2006) DOI:10.1016/j.beem.2006.09.002 PMID:22634753 AUTHORS Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nurnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJ, Metherell LA TITLE Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. JOURNAL Nat Genet 44:740-2 (2012) DOI:10.1038/ng.2299 PMID:17893271 AUTHORS Rumie H, Metherell LA, Clark AJ, Beauloye V, Maes M TITLE Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. JOURNAL Eur J Endocrinol 157:539-42 (2007) DOI:10.1530/EJE-07-0242 PMID:9196605 AUTHORS Weber A, Clark AJ, Perry LA, Honour JW, Savage MO TITLE Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. JOURNAL Clin Endocrinol (Oxf) 46:431-7 (1997) DOI:10.1046/j.1365-2265.1997.1580969.x PMID:24601690 AUTHORS Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJ, Storr HL, Metherell LA TITLE Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). JOURNAL J Clin Endocrinol Metab 99:E1556-63 (2014) DOI:10.1210/jc.2013-3844 |