MCID: ATM078
MIFTS: 32

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 Cell adhesion molecules (CAMs) and Rheumatoid arthritis. The drugs Cosyntropin and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include kidney, adrenal gland and testes, 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 39)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 32.3 AIRE CTLA4 CYP21A2
2 thymoma 30.0 AIRE CTLA4
3 myasthenia gravis 29.8 AIRE CTLA4
4 graves' disease 29.4 CTLA4 HLA-DRB1
5 diabetes mellitus 29.3 AIRE CTLA4 HLA-DRB1
6 autoimmune polyendocrine syndrome, type ii 11.2
7 adrenal cortical hypofunction 10.1 AIRE CYP21A2
8 autoimmune polyendocrine syndrome type 1 10.1 AIRE CYP21A2
9 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 AIRE CYP21A2
10 type 1 diabetes mellitus 17 10.1 AIRE CTLA4
11 autoimmune polyendocrine syndrome 10.0
12 keratopathy 10.0 AIRE NLRP1
13 type 1 diabetes mellitus 5 10.0 AIRE CTLA4
14 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 AIRE CTLA4
15 premature ovarian failure 1 10.0
16 myasthenia gravis congenital 10.0
17 autoimmune disease of endocrine system 10.0 AIRE CTLA4
18 alopecia areata 9.9 AIRE CTLA4
19 autoimmune polyglandular syndrome type 3 9.9 CYP21A2 HLA-DRB1
20 celiac disease 1 9.9
21 hyperprolactinemia 9.9
22 thyroiditis 9.9
23 encephalopathy 9.9
24 type 1 diabetes mellitus 12 9.9 CTLA4 HLA-DRB1
25 anca-associated vasculitis 9.9 CTLA4 HLA-DRB1
26 pemphigus foliaceus 9.9 CTLA4 HLA-DRB1
27 sympathetic ophthalmia 9.8 CTLA4 HLA-DRB1
28 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8 AIRE CTLA4 NLRP1
29 autoimmune pancreatitis 9.8 CTLA4 HLA-DRB1
30 vogt-koyanagi-harada disease 9.8 HLA-DRB1 NLRP1
31 hashimoto thyroiditis 9.7 AIRE CTLA4 CYP27B1
32 asthma 9.7
33 glomerulonephritis 9.7
34 membranoproliferative glomerulonephritis 9.7
35 lymphomatous thyroiditis 9.7
36 autoimmune hepatitis 9.6 AIRE CTLA4 HLA-DRB1
37 diabetes mellitus, insulin-dependent 9.6 AIRE CTLA4 HLA-DRB1
38 rheumatoid arthritis 9.4 CTLA4 HLA-DRB1 NLRP1
39 autoimmune disease 9.3 AIRE CTLA4 HLA-DRB1 NLRP1

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
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
rituximab Approved Phase 4 174722-31-7 10201696
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
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 Hormone Antagonists Phase 4,Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
11 Methylprednisolone Acetate Phase 4
12 Antirheumatic Agents Phase 4
13 Immunologic Factors Phase 4
14 Antineoplastic Agents, Immunological Phase 4
15 Prednisolone acetate Phase 4
16
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
17
Racepinephrine Approved Not Applicable 329-65-7 838
18 Neurotransmitter Agents Not Applicable
19 Epinephryl borate Not Applicable
20 Peripheral Nervous System Agents Not Applicable
21 Vasoconstrictor Agents Not Applicable
22 Anti-Asthmatic Agents Not Applicable
23 Adrenergic Agonists Not Applicable
24 Bronchodilator Agents Not Applicable
25 Autonomic Agents Not Applicable
26 Sympathomimetics Not Applicable
27 Respiratory System Agents Not Applicable
28 Adrenergic Agents Not Applicable
29 Adrenergic beta-Agonists Not Applicable
30 Adrenergic alpha-Agonists Not Applicable
31 Mydriatics 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, Testes, T Cells

Publications for Autoimmune Addison Disease

Articles related to Autoimmune Addison Disease:

# Title Authors Year
1
Elevated serum RANTES chemokine levels in autoimmune Addison disease. ( 29498364 )
2018
2
From Genetic Predisposition to Molecular Mechanisms of Autoimmune Primary Adrenal Insufficiency. ( 27211051 )
2016
3
Autoimmune Addison disease: pathophysiology and genetic complexity. ( 22290360 )
2012
4
Autoimmunity: autoimmune Addison disease and premature ovarian failure. ( 21750509 )
2011
5
Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. ( 19808197 )
2009
6
Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry. ( 19858318 )
2009
7
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency. ( 19890026 )
2009
8
Paraneoplastic neurologic syndrome and autoimmune Addison disease in a patient with thymoma. ( 15654180 )
2005
9
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 11.31 CTLA4 HLA-DRB1
2 10.91 CTLA4 HLA-DRB1
3 10.47 CTLA4 HLA-DRB1

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 NLRP1
2 immune response GO:0006955 9.13 AIRE CTLA4 HLA-DRB1
3 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 heme binding GO:0020037 9.16 CYP21A2 CYP27B1
2 iron ion binding GO:0005506 8.96 CYP21A2 CYP27B1
3 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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