KEGG   DISEASE: Familial glucocorticoid deficiencyHelp
Entry
H00256                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H00256  Familial glucocorticoid deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A74  Adrenocortical insufficiency
     H00256  Familial glucocorticoid deficiency
BRITE hierarchy
Network
N00299  Mutation-inactivated MC2R to ACTH-cortisol signaling pathway
N00300  Mutation-inactivated MRAP to ACTH-cortisol signaling pathway
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]
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
  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
Reference
  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
Reference
  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
Reference
  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
Reference
PMID:17893271 (drug , marker)
  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
Reference
PMID:9196605 (marker)
  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
Reference
  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

» Japanese version

DBGET integrated database retrieval system