Details of Disease

Disease Name

Adrenal gland hyperfunction

hyperfunction, adrenocortical; disorder of corticoadrenal overactivity; hypercorticism; hyperadrenocorticism; hyperfunction, adrenal gland; hypercortisolism; hypercortisolemia; hyperadrenalism; adrenocortical hyperfunction; adrenal gland hyperfunction

Definition

Excess production of adrenal cortex hormones.

Disease Hierarchy

DIS6U5TM: Adrenal cortex disorder

DISPP4ZK: Adrenal gland hyperfunction

Disease Identifiers

MONDO ID

MONDO_0006640

MESH ID

D000308

UMLS CUI

C0001622

MedGen ID

7899

SNOMED CT ID

275437005

General Information of Disease (ID: DISPP4ZK)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F12	TTRJSMV	Limited	Genetic Variation	[1]
KCNJ5	TTEO25X	Limited	Genetic Variation	[2]
CPA1	TT3LJ6G	Strong	Biomarker	[3]
CYP11B1	TTIQUX7	Strong	Posttranslational Modification	[4]
GIPR	TTYMKBE	Strong	Biomarker	[5]
CYP11B2	TT9MNE2	Definitive	Posttranslational Modification	[4]
PRKACA	TT5U49F	Definitive	Genetic Variation	[6]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD3B1	DERDQWN	Limited	Biomarker	[7]
HSD3B2	DEN0GVQ	Limited	Biomarker	[7]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHLDA2	OTMV9DPP	Limited	Altered Expression	[8]
ARMC5	OTO7IV74	Strong	Genetic Variation	[9]
GABRA6	OTX4UC3O	Strong	Genetic Variation	[10]
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References

1	Hageman factor C46T promoter gene polymorphism in patients with hypercortisolism.Horm Metab Res. 2014 Jun;46(7):510-4. doi: 10.1055/s-0034-1371823. Epub 2014 Apr 1.
2	Genetic and epigenetic analyses of aldosterone-producing adenoma with hypercortisolemia.Steroids. 2019 Nov;151:108470. doi: 10.1016/j.steroids.2019.108470. Epub 2019 Aug 7.
3	Sporadic solitary aldosterone- and cortisol-co-secreting adenomas: endocrine, histological and genetic findings in a subtype of primary aldosteronism.Hypertens Res. 2010 May;33(5):467-72. doi: 10.1038/hr.2010.18. Epub 2010 Feb 26.
4	Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia.Sci Rep. 2017 Sep 11;7(1):11205. doi: 10.1038/s41598-017-11435-2.
5	The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors.J Clin Endocrinol Metab. 2002 May;87(5):1980-5. doi: 10.1210/jcem.87.5.8458.
6	cAMP signaling in cortisol-producing adrenal adenoma.Eur J Endocrinol. 2015 Oct;173(4):M99-106. doi: 10.1530/EJE-15-0353. Epub 2015 Jul 2.
7	Expression of steroidogenic enzymes and their transcription factors in cortisol-producing adrenocortical adenomas: immunohistochemical analysis and quantitative real-time polymerase chain reaction studies.Hum Pathol. 2016 Aug;54:165-73. doi: 10.1016/j.humpath.2016.03.016. Epub 2016 Apr 13.
8	Altered spontaneous brain activity in Cushing's disease: a resting-state functional MRI study.Clin Endocrinol (Oxf). 2017 Mar;86(3):367-376. doi: 10.1111/cen.13277. Epub 2016 Dec 15.
9	ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.PLoS One. 2018 Jan 25;13(1):e0191602. doi: 10.1371/journal.pone.0191602. eCollection 2018.
10	Association between a variant at the GABA(A)alpha6 receptor subunit gene, abdominal obesity, and cortisol secretion.Ann N Y Acad Sci. 2002 Jun;967:566-70. doi: 10.1111/j.1749-6632.2002.tb04318.x.