Details of Disease | DrugMAP

General Information of Disease (ID: DISCTX0T)

Disease Name	Glucocorticoid deficiency 1
Synonyms	GCCD1; adrenal unresponsiveness to ACTH; familial glucocorticoid deficiency 1; ACTH resistance; glucocorticoid deficiency 1; glucocorticoid deficiency, due to ACTH unresponsiveness; MC2R familial glucocorticoid deficiency; familial glucocorticoid deficiency caused by mutation in MC2R
Definition	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.
Disease Hierarchy	DISG7TB4: Familial glucocorticoid deficiency DISCTX0T: Glucocorticoid deficiency 1
Disease Identifiers	MONDO ID MONDO_0024536 MESH ID C565974 UMLS CUI C4049650 OMIM ID 202200 MedGen ID 885551

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NNT	TTKIH76	Disputed	GermlineCausalMutation	[1]
STAR	TTEI40H	Strong	Genetic Variation	[2]
MC2R	TTPWFDX	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACD	OTC54EPO	Limited	Genetic Variation	[4]
AAAS	OTJT9T23	Strong	Biomarker	[5]
MC2R	OT6V19Y9	Definitive	Autosomal recessive	[3]
MRAP	OTLBWM7X	Definitive	GermlineCausalMutation	[6]
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References

1	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.
2	Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.J Clin Endocrinol Metab. 2009 Oct;94(10):3865-71. doi: 10.1210/jc.2009-0467. Epub 2009 Sep 22.
3	Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet. 1993 Feb 20;341(8843):461-2. doi: 10.1016/0140-6736(93)90208-x.
4	Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.Clin Endocrinol (Oxf). 2007 Aug;67(2):168-74. doi: 10.1111/j.1365-2265.2007.02855.x. Epub 2007 Apr 27.
5	Heterogeneity in the molecular basis of ACTH resistance syndrome.Eur J Endocrinol. 2008 Jul;159(1):61-8. doi: 10.1530/EJE-08-0079. Epub 2008 Apr 21.
6	Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28.