MCID: ATM078
MIFTS: 33

Autoimmune Addison Disease

Categories: Endocrine diseases

Aliases & Classifications for Autoimmune Addison Disease

MalaCards integrated aliases for Autoimmune Addison Disease:

Name: Autoimmune Addison Disease 26
Autoimmune Primary Adrenal Insufficiency 74
Addison's Disease Due to Autoimmunity 74
Autoimmune Addison's Disease 26
Classic Addison Disease 26
Primary Addison Disease 26
Autoimmune Adrenalitis 26

Classifications:



External Ids:

Summaries for Autoimmune Addison Disease

Genetics Home Reference : 26 Autoimmune Addison disease affects the function of the adrenal glands, which are small hormone-producing glands located on top of each kidney. It is classified as an autoimmune disorder because it results from a malfunctioning immune system that attacks the adrenal glands. As a result, the production of several hormones is disrupted, which affects many body systems.

MalaCards based summary : Autoimmune Addison Disease, also known as autoimmune primary adrenal insufficiency, is related to hypoadrenocorticism, familial and thymoma. An important gene associated with Autoimmune Addison Disease is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), and among its related pathways/superpathways are Translocation of ZAP-70 to Immunological synapse and Rheumatoid arthritis. The drugs Cosyntropin and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include kidney, adrenal gland and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autoimmune Addison Disease

Diseases related to Autoimmune Addison Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 31.9 AIRE CTLA4 CYP21A2 PTPN22
2 thymoma 30.0 AIRE CTLA4
3 thyroiditis 30.0 CTLA4 PTPN22
4 myasthenia gravis 29.8 AIRE CTLA4
5 graves' disease 29.8 CTLA4 HLA-DRB1 PTPN22
6 celiac disease 1 29.7 CTLA4 PTPN22
7 diabetes mellitus 29.0 AIRE CTLA4 HLA-DRB1 PTPN22
8 rheumatoid arthritis 28.8 CTLA4 HLA-DRB1 PTPN22
9 autoimmune polyendocrine syndrome, type ii 11.2
10 thymoma, familial 10.2
11 autoimmune polyendocrine syndrome type 1 10.1 AIRE CYP21A2
12 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 AIRE CYP21A2
13 type 1 diabetes mellitus 17 10.1 AIRE CTLA4
14 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 AIRE PTPN22
15 autoimmune polyglandular syndrome type 3 10.1 CYP21A2 HLA-DRB1
16 autoimmune polyendocrine syndrome 10.1
17 type 1 diabetes mellitus 5 10.0 AIRE CTLA4
18 premature ovarian failure 1 10.0
19 myasthenia gravis congenital 10.0
20 chronic mucocutaneous candidiasis 10.0 AIRE PTPN22
21 rheumatoid factor-negative juvenile idiopathic arthritis 10.0 HLA-DRB1 PTPN22
22 type 1 diabetes mellitus 12 10.0 CTLA4 HLA-DRB1
23 anca-associated vasculitis 10.0 CTLA4 HLA-DRB1
24 pemphigus foliaceus 10.0 CTLA4 HLA-DRB1
25 sympathetic ophthalmia 10.0 CTLA4 HLA-DRB1
26 oligoarticular juvenile idiopathic arthritis 10.0 HLA-DRB1 PTPN22
27 autoimmune pancreatitis 9.9 CTLA4 HLA-DRB1
28 palindromic rheumatism 9.9 HLA-DRB1 PTPN22
29 granulomatosis with polyangiitis 9.9 CTLA4 PTPN22
30 temporal arteritis 9.9 HLA-DRB1 PTPN22
31 vogt-koyanagi-harada disease 9.9 HLA-DRB1 PTPN22
32 hyperprolactinemia 9.9
33 encephalopathy 9.9
34 bone inflammation disease 9.9 HLA-DRB1 PTPN22
35 adrenal cortical hypofunction 9.9 AIRE CYP21A2 PTPN22
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8 AIRE CTLA4 PTPN22
37 autoimmune disease of endocrine system 9.8 AIRE CTLA4 PTPN22
38 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8 AIRE CTLA4 PTPN22
39 alopecia areata 9.8 AIRE CTLA4 PTPN22
40 autoimmune hepatitis 9.7 AIRE CTLA4 HLA-DRB1
41 asthma 9.7
42 glomerulonephritis 9.7
43 membranoproliferative glomerulonephritis 9.7
44 lymphomatous thyroiditis 9.7
45 psoriatic arthritis 9.6 HLA-DRB1 PTPN22
46 diabetes mellitus, insulin-dependent 9.5 AIRE CTLA4 HLA-DRB1 PTPN22
47 autoimmune disease 9.5 AIRE CTLA4 HLA-DRB1 PTPN22
48 hashimoto thyroiditis 9.3 AIRE CTLA4 CYP27B1 PTPN22

Graphical network of the top 20 diseases related to Autoimmune Addison Disease:



Diseases related to Autoimmune Addison Disease

Symptoms & Phenotypes for Autoimmune Addison Disease

GenomeRNAi Phenotypes related to Autoimmune Addison Disease according to GeneCards Suite gene sharing:

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.84 CYP21A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.84 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 HLA-DRB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.84 HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.84 AIRE CYP21A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.84 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.84 HLA-DRB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.84 AIRE HLA-DRB1 CYP21A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.84 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.84 CYP21A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.84 AIRE
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.84 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.84 CYP21A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.84 AIRE HLA-DRB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 AIRE

Drugs & Therapeutics for Autoimmune Addison Disease

Drugs for Autoimmune Addison Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cosyntropin Approved Phase 4,Not Applicable 16960-16-0 16129617
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
rituximab Approved Phase 4 174722-31-7 10201696
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
8 Hormones Phase 4,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
10 Hormone Antagonists Phase 4,Not Applicable
11 Antirheumatic Agents Phase 4
12 Methylprednisolone Acetate Phase 4
13 Immunologic Factors Phase 4
14 Antineoplastic Agents, Immunological Phase 4
15 Prednisolone acetate Phase 4
16
Racepinephrine Approved Not Applicable 329-65-7 838
17
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
18 Bronchodilator Agents Not Applicable
19 Vasoconstrictor Agents Not Applicable
20 Adrenergic alpha-Agonists Not Applicable
21 Anti-Asthmatic Agents Not Applicable
22 Epinephryl borate Not Applicable
23 Peripheral Nervous System Agents Not Applicable
24 Adrenergic Agonists Not Applicable
25 Respiratory System Agents Not Applicable
26 Sympathomimetics Not Applicable
27 Autonomic Agents Not Applicable
28 Mydriatics Not Applicable
29 Adrenergic Agents Not Applicable
30 Neurotransmitter Agents Not Applicable
31 Adrenergic beta-Agonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Revival of Stem Cells in Addison's Study Completed NCT01371526 Phase 4 depot tetracosactide
2 Rescue of Steroidogenic Capacity in Adrenocortical Failure Study (RADS) Completed NCT00753597 Phase 4 Solu-medrone, Mabthera
3 Screening and Stimulation Testing for Residual Secretion of Adrenal Steroid Hormones in Autoimmune Addison's Disease Recruiting NCT03793114 Not Applicable

Search NIH Clinical Center for Autoimmune Addison Disease

Genetic Tests for Autoimmune Addison Disease

Anatomical Context for Autoimmune Addison Disease

MalaCards organs/tissues related to Autoimmune Addison Disease:

42
Kidney, Adrenal Gland, T Cells, Thyroid, Testes, Bone

Publications for Autoimmune Addison Disease

Articles related to Autoimmune Addison Disease:

(show all 11)
# Title Authors Year
1
Sex-Specific Risk of Cardiovascular Disease in Autoimmune Addison Disease-A Population-Based Cohort Study. ( 30608542 )
2019
2
Elevated serum RANTES chemokine levels in autoimmune Addison disease. ( 29498364 )
2018
3
Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study. ( 27870550 )
2017
4
From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency. ( 27211051 )
2016
5
Autoimmune Addison disease: pathophysiology and genetic complexity. ( 22290360 )
2012
6
Autoimmunity: autoimmune Addison disease and premature ovarian failure. ( 21750509 )
2011
7
Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. ( 19808197 )
2009
8
Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry. ( 19858318 )
2009
9
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency. ( 19890026 )
2009
10
Paraneoplastic neurologic syndrome and autoimmune Addison disease in a patient with thymoma. ( 15654180 )
2005
11
Elevated serum interferon-gamma-inducible chemokine-10/CXC chemokine ligand-10 in autoimmune primary adrenal insufficiency and in vitro expression in human adrenal cells primary cultures after stimulation with proinflammatory cytokines. ( 15657375 )
2005

Variations for Autoimmune Addison Disease

Expression for Autoimmune Addison Disease

Search GEO for disease gene expression data for Autoimmune Addison Disease.

Pathways for Autoimmune Addison Disease

Pathways related to Autoimmune Addison Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 HLA-DRB1 PTPN22
2 10.91 CTLA4 HLA-DRB1
3 10.65 CTLA4 HLA-DRB1 PTPN22

GO Terms for Autoimmune Addison Disease

Biological processes related to Autoimmune Addison Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.33 CTLA4 HLA-DRB1 PTPN22
2 T cell receptor signaling pathway GO:0050852 9.26 HLA-DRB1 PTPN22
3 immune response GO:0006955 9.13 AIRE CTLA4 HLA-DRB1
4 negative regulation of T cell proliferation GO:0042130 8.62 CTLA4 HLA-DRB1

Molecular functions related to Autoimmune Addison Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.62 CYP21A2 CYP27B1

Sources for Autoimmune Addison Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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