Details of Disease

General Information of Disease (ID: DIS7HNOH)

Disease Name	Addison disease
Synonyms	adrenal gland hypofunction; adrenal hypoplasia; hypoadrenocorticism familial; adrenal aplasia; autoimmune primary adrenal insufficiency; Addison's disease; classic Addison's disease; Addison disease, chronic adrenal insufficiency; primary Addison's disease; primary hypoadrenalism; chronic adrenocorticoid insufficiency; autoimmune adrenalitis; primary adrenocortical insufficiency; primary adrenal insufficiency, chronic; CPAI; hypoadrenocorticism, familial; autoimmune Addison disease; Addison disease
Disease Class	5A74: Adrenocortical insufficiency
Definition	A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
Disease Hierarchy	DISZ0CPT: Adrenocortical insufficiency DISNMBYU: Primary adrenal insufficiency DIS7HNOH: Addison disease
ICD Code	ICD-11 ICD-11: 5A74.0 ICD-9 ICD-9: 255.4 Expand ICD-11 '5A74.0 Expand ICD-10 'E27.1; 'E27.3; 'E35 Expand ICD-9 255.4
Disease Identifiers	MONDO ID MONDO_0015129 MESH ID D000224 UMLS CUI C0001403 MedGen ID 1324 Orphanet ID 101959 SNOMED CT ID 363732003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 10 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Betamethasone	DMAHJEF	Approved	Small molecular drug	[1]
Cortisone Acetate	DMG8K57	Approved	Small molecular drug	[2]
Desoxycorticosterone Pivalate	DMSA4B3	Approved	Small molecular drug	[3]
Dexamethasone	DMMWZET	Approved	Small molecular drug	[4]
Fludrocortisone	DMUDIR8	Approved	Small molecular drug	[5]
Hydrocortisone	DMGEMB7	Approved	Small molecular drug	[6]
Methylprednisolone	DM4BDON	Approved	Small molecular drug	[7]
Prednisolone	DMQ8FR2	Approved	Small molecular drug	[8]
Prednisone	DM2HG4X	Approved	Small molecular drug	[9]
Triamcinolone	DM98IXF	Approved	Small molecular drug	[10]
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⏷ Show the Full List of 10 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11A1	TTSYVO6	Limited	Genetic Variation	[11]
CYP21A2	TTP4GLG	Limited	Biomarker	[12]
MC2R	TTPWFDX	Limited	Genetic Variation	[13]
NNT	TTKIH76	moderate	Genetic Variation	[14]
CRH	TTA7YIZ	Strong	Biomarker	[15]
NR0B1	TTTK36V	Strong	Genetic Variation	[11]
STAR	TTEI40H	Strong	Genetic Variation	[11]
TPO	TT52XDZ	Strong	Biomarker	[16]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD1	DTKM9DZ	Strong	Biomarker	[17]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT2B28	DEB7I4M	moderate	Biomarker	[18]
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This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLEC16A	OTLGV5SV	Limited	Genetic Variation	[19]
HLA-DOA	OTZE5Q7R	Limited	Genetic Variation	[20]
HLA-DQA2	OT1DH0N9	Limited	Genetic Variation	[21]
IFIH1	OTZA2AHA	Limited	Genetic Variation	[22]
NUDT11	OTFDXJA1	Limited	Biomarker	[23]
FGD1	OTV3T64P	moderate	Genetic Variation	[24]
IFNA4	OTII5O0G	moderate	Biomarker	[25]
POLR3B	OT3FS9MB	moderate	Genetic Variation	[26]
PROP1	OT8GF6N8	moderate	Genetic Variation	[27]
SAMD9	OTDG48P0	moderate	Genetic Variation	[11]
SH2B2	OTEDHHDH	moderate	Biomarker	[23]
SUMO4	OT9B447E	moderate	Genetic Variation	[28]
AIRE	OTA7G1Y1	Strong	Genetic Variation	[29]
CIITA	OTRJNZFO	Strong	Genetic Variation	[30]
MICA	OTPEIEAR	Strong	Biomarker	[31]
NR5A1	OTOULYR4	Strong	Genetic Variation	[11]
NUDT10	OT61XMYC	Strong	Genetic Variation	[15]
PTPN22	OTDCNTC3	Definitive	Genetic Variation	[32]
RBM45	OTWTHD77	Definitive	Genetic Variation	[33]
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⏷ Show the Full List of 19 DOT(s)

References

1	Betamethasone FDA Label
2	Cortisone acetate FDA Label
3	Drug information of Desoxycorticosterone Pivalate, 2008. eduDrugs.
4	Dexamethasone FDA Label
5	Fludrocortisone FDA Label
6	Hydrocortisone FDA Label
7	Methylprednisolone FDA Label
8	Prednisolone FDA Label
9	Prednisone FDA Label
10	Triamcinolone FDA Label
11	Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30.
12	A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.J Immunol. 1999 Feb 15;162(4):2422-6.
13	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.
14	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.
15	A rare case of autoimmune polyglandular syndrome with Sjgren's syndrome and primary hypoparathyroidism.BMJ Case Rep. 2019 May 27;12(5):e228634. doi: 10.1136/bcr-2018-228634.
16	Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men.Endocrine. 2016 Apr;52(1):157-64. doi: 10.1007/s12020-015-0613-y. Epub 2015 May 3.
17	Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.Hum Mol Genet. 2004 Dec 1;13(23):2997-3006. doi: 10.1093/hmg/ddh323. Epub 2004 Oct 15.
18	Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease.BMC Med Genet. 2011 Aug 18;12:111. doi: 10.1186/1471-2350-12-111.
19	More CLEC16A gene variants associated with multiple sclerosis.Acta Neurol Scand. 2011 Jun;123(6):400-6. doi: 10.1111/j.1600-0404.2010.01421.x. Epub 2010 Sep 16.
20	Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.J Clin Endocrinol Metab. 2004 Jul;89(7):3474-6. doi: 10.1210/jc.2003-031854.
21	Beta-cell, thyroid, gastric, adrenal and coeliac autoimmunity and HLA-DQ types in type 1 diabetes.Clin Exp Immunol. 2001 Nov;126(2):236-41. doi: 10.1046/j.1365-2249.2001.01668.x.
22	Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease.Clin Endocrinol (Oxf). 2013 Feb;78(2):191-6. doi: 10.1111/j.1365-2265.2012.04497.x.
23	Addison's disease: a survey on 633 patients in Padova.Eur J Endocrinol. 2013 Oct 21;169(6):773-84. doi: 10.1530/EJE-13-0528. Print 2013 Dec.
24	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.
25	Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1.J Clin Endocrinol Metab. 2018 Jan 1;103(1):179-186. doi: 10.1210/jc.2017-01957.
26	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.
27	Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene.Eur J Endocrinol. 2000 Sep;143(3):347-52. doi: 10.1530/eje.0.1430347.
28	No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' disease.Clin Endocrinol (Oxf). 2005 Mar;62(3):362-5. doi: 10.1111/j.1365-2265.2005.02224.x.
29	Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.J Clin Endocrinol Metab. 2017 Sep 1;102(9):3546-3556. doi: 10.1210/jc.2017-00139.
30	Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency.J Clin Endocrinol Metab. 2008 Sep;93(9):3310-7. doi: 10.1210/jc.2008-0821. Epub 2008 Jul 1.
31	Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes.J Clin Endocrinol Metab. 2009 Nov;94(11):4517-23. doi: 10.1210/jc.2009-1308. Epub 2009 Oct 9.
32	Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue.Genes Immun. 2012 Dec;13(8):641-52. doi: 10.1038/gene.2012.46. Epub 2012 Oct 18.
33	DLA class II haplotypes show sex-specific associations with primary hypoadrenocorticism in Standard Poodle dogs.Immunogenetics. 2019 May;71(5-6):373-382. doi: 10.1007/s00251-019-01113-0. Epub 2019 Apr 9.