Details of Disease

General Information of Disease (ID: DISZ0CPT)

Disease Name	Adrenocortical insufficiency
Synonyms	hypoadrenalism; hypocortisolism; hypocortisolemia; corticoadrenal insufficiency; adrenocortical insufficiency; adrenal insufficiency; adrenal gland insufficiency; adrenal cortical insufficiency; adrenal cortical hypofunction
Disease Class	5A74: Adrenocortical insufficiency
Definition	An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).
Disease Hierarchy	DIS6U5TM: Adrenal cortex disorder DISZ0CPT: Adrenocortical insufficiency
ICD Code	ICD-11 ICD-11: 5A74 ICD-10 ICD-10: E27.4 ICD-9 ICD-9: 255.4 Expand ICD-11 '5A74 Expand ICD-10 'E27.4 Expand ICD-9 255.4
Disease Identifiers	MONDO ID MONDO_0000004 UMLS CUI C0405580 MedGen ID 589758 SNOMED CT ID 386584007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cosyntropin	DMUIASK	Approved	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MC2R	TTPWFDX	Limited	Genetic Variation	[2]
CSNK1A1	TTFQEMX	moderate	Altered Expression	[3]
MAT2A	TTSMPXQ	moderate	Altered Expression	[3]
NNT	TTKIH76	moderate	Genetic Variation	[4]
SERPINA6	TTJL8VG	moderate	Biomarker	[5]
STAR	TTEI40H	moderate	Genetic Variation	[6]
CYP11A1	TTSYVO6	Strong	Genetic Variation	[7]
CYP11B1	TTIQUX7	Strong	Genetic Variation	[8]
NR0B1	TTTK36V	Strong	Genetic Variation	[9]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD1	DTKM9DZ	Strong	Genetic Variation	[10]
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This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AANAT	OTUBJ7SX	moderate	Altered Expression	[3]
CORO7	OTG7MEAJ	moderate	Biomarker	[11]
CORT	OTX3GUHB	moderate	Biomarker	[12]
CREB3	OT9617UO	moderate	Altered Expression	[3]
EIF2B2	OTQQMHM1	moderate	Genetic Variation	[13]
POLR3B	OT3FS9MB	moderate	Genetic Variation	[14]
PRKAR2A	OTZ7P17Z	moderate	Altered Expression	[3]
SAMD9	OTDG48P0	moderate	Genetic Variation	[15]
SF1	OTLEDM2S	moderate	Genetic Variation	[16]
TBX19	OTXEMR2U	moderate	Biomarker	[17]
AAAS	OTJT9T23	Strong	Genetic Variation	[18]
AIRE	OTA7G1Y1	Strong	Biomarker	[19]
MCM4	OT19PNNG	Strong	Biomarker	[20]
NUDT11	OTFDXJA1	Strong	Biomarker	[19]
PROP1	OT8GF6N8	Strong	Genetic Variation	[21]
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⏷ Show the Full List of 15 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6965).
2	Mutations in the human proopiomelanocortin gene.Ann N Y Acad Sci. 2003 Jun;994:233-9. doi: 10.1111/j.1749-6632.2003.tb03185.x.
3	Circadian Rhythm of Glucocorticoid Administration Entrains Clock Genes in Immune Cells: A DREAM Trial Ancillary Study.J Clin Endocrinol Metab. 2018 Aug 1;103(8):2998-3009. doi: 10.1210/jc.2018-00346.
4	NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.Eur J Endocrinol. 2016 Jul;175(1):73-84. doi: 10.1530/EJE-16-0056. Epub 2016 Apr 29.
5	The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency.J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):107-115. doi: 10.1515/jpem-2017-0270.
6	Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.Ital J Pediatr. 2017 Jun 20;43(1):57. doi: 10.1186/s13052-017-0371-y.
7	Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.J Clin Endocrinol Metab. 2019 Feb 1;104(2):269-276. doi: 10.1210/jc.2018-01661.
8	Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.Endocrine. 2013 Aug;44(1):212-9. doi: 10.1007/s12020-012-9861-2. Epub 2013 Jan 24.
9	Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.BMC Med Genet. 2019 Jun 4;20(1):98. doi: 10.1186/s12881-019-0834-7.
10	Intra familial phenotypical variations in adrenoleukodystrophy.Neurol India. 2010 Jan-Feb;58(1):109-11. doi: 10.4103/0028-3886.60418.
11	Clinical utility of routine postoperative morning cortisol monitoring in detecting new hypothalamic-pituitary-adrenal axis insufficiency following endoscopic transsphenoidal surgery for sellar lesions.J Neurosurg. 2019 Mar 1;132(4):1054-1058. doi: 10.3171/2018.11.JNS182521.
12	NMDA receptor antagonist prevents cell death in the hippocampal dentate gyrus induced by hyponatremia accompanying adrenal insufficiency in rats.Exp Neurol. 2017 Jan;287(Pt 1):65-74. doi: 10.1016/j.expneurol.2016.08.007. Epub 2016 Aug 12.
13	Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.Gene. 2012 Apr 1;496(2):141-3. doi: 10.1016/j.gene.2011.12.047. Epub 2012 Jan 17.
14	Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.BMC Med Genet. 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0.
15	MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.PLoS One. 2018 Nov 7;13(11):e0206184. doi: 10.1371/journal.pone.0206184. eCollection 2018.
16	In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.Reprod Biomed Online. 2020 Jan;40(1):151-159. doi: 10.1016/j.rbmo.2019.10.002. Epub 2019 Oct 10.
17	A rare cause of neonatal hypoglycemia in two siblings: TBX19 gene mutation.Hormones (Athens). 2018 Jun;17(2):269-273. doi: 10.1007/s42000-018-0028-2. Epub 2018 May 3.
18	Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.J Neurol Sci. 2010 Mar 15;290(1-2):150-2. doi: 10.1016/j.jns.2009.12.005. Epub 2010 Jan 6.
19	A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.Immunogenetics. 2017 Oct;69(10):643-651. doi: 10.1007/s00251-017-0995-5. Epub 2017 May 24.
20	Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.J Clin Invest. 2012 Mar;122(3):821-32. doi: 10.1172/JCI61014. Epub 2012 Feb 22.
21	PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab. 2004 Oct;89(10):5256-65. doi: 10.1210/jc.2004-0661.