Details of Disease | DrugMAP

General Information of Disease (ID: DISG7TB4)

Disease Name	Familial glucocorticoid deficiency
Synonyms	GCCD; glucocorticoid deficiency
Definition	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.
Disease Hierarchy	DISYKSRF: Genetic disease DIS7HNOH: Addison disease DISG7TB4: Familial glucocorticoid deficiency
Disease Identifiers	MONDO ID MONDO_0008733 UMLS CUI C4054695 MedGen ID 885955 Orphanet ID 361 SNOMED CT ID 765326001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TXNRD2	OTZQQC3T	Supportive	Autosomal recessive	[1]
MC2R	OT6V19Y9	Supportive	Autosomal recessive	[2]
MRAP	OTLBWM7X	Supportive	Autosomal recessive	[5]
NNT	OTAIOGZK	Supportive	Autosomal recessive	[3]
FGD1	OTV3T64P	moderate	Genetic Variation	[6]
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This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MC2R	TTPWFDX	Supportive	Autosomal recessive	[2]
NNT	TTKIH76	Supportive	Autosomal recessive	[3]
NNT	TTKIH76	Strong	Genetic Variation	[4]
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References

1	Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab. 2014 Aug;99(8):E1556-63. doi: 10.1210/jc.2013-3844. Epub 2014 Mar 6.
2	Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet. 1994 Apr;3(4):585-8. doi: 10.1093/hmg/3.4.585.
3	Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012 May 27;44(7):740-2. doi: 10.1038/ng.2299.
4	Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.Hum Mutat. 2016 Oct;37(10):1074-84. doi: 10.1002/humu.23046. Epub 2016 Aug 8.
5	Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. 2005 Feb;37(2):166-70. doi: 10.1038/ng1501. Epub 2005 Jan 16.
6	Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.Clin Endocrinol (Oxf). 2007 Feb;66(2):205-10. doi: 10.1111/j.1365-2265.2006.02709.x.