MCID: ATM078
MIFTS: 31

Autoimmune Addison Disease

Categories: Endocrine diseases

Aliases & Classifications for Autoimmune Addison Disease

MalaCards integrated aliases for Autoimmune Addison Disease:

Name: Autoimmune Addison Disease 25
Autoimmune Primary Adrenal Insufficiency 73
Addison's Disease Due to Autoimmunity 73
Autoimmune Addison's Disease 25
Classic Addison Disease 25
Primary Addison Disease 25
Autoimmune Adrenalitis 25

Classifications:



External Ids:

Summaries for Autoimmune Addison Disease

Genetics Home Reference : 25 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 NF-kappaB Signaling and Translocation of ZAP-70 to Immunological synapse. The drugs rituximab and Prednisolone 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 46)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 31.0 AIRE CTLA4 CYP21A2 PTPN22
2 thymoma 29.7 AIRE CTLA4
3 myasthenia gravis 29.6 AIRE CTLA4
4 autoimmune polyendocrine syndrome, type ii 11.0
5 autoimmune polyendocrine syndrome type 1 10.3 AIRE CYP21A2
6 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3 AIRE CYP21A2
7 type 1 diabetes mellitus 17 10.2 AIRE CTLA4
8 anterior uveitis 10.1 CTLA4 PTPN22
9 primary biliary cholangitis 10.1 CTLA4 PTPN22
10 type 1 diabetes mellitus 5 10.1 AIRE CTLA4
11 keratopathy 10.0 AIRE NLRP1
12 thyroiditis 9.9 CTLA4 PTPN22
13 rheumatoid factor-negative juvenile idiopathic arthritis 9.8 HLA-DRB1 PTPN22
14 type 1 diabetes mellitus 12 9.8 CTLA4 HLA-DRB1
15 adrenal cortical hypofunction 9.8 AIRE CYP21A2 PTPN22
16 autoimmune pancreatitis 9.8 CTLA4 HLA-DRB1
17 wegener granulomatosis 9.8 CTLA4 PTPN22
18 anca-associated vasculitis 9.8 CTLA4 HLA-DRB1
19 premature ovarian failure 1 9.8
20 myasthenia gravis congenital 9.8
21 pemphigus foliaceus 9.7 CTLA4 HLA-DRB1
22 sympathetic ophthalmia 9.7 CTLA4 HLA-DRB1
23 oligoarticular juvenile idiopathic arthritis 9.7 HLA-DRB1 PTPN22
24 autoimmune disease of endocrine system 9.7 AIRE CTLA4 PTPN22
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7 AIRE CTLA4 PTPN22
26 severe hemophilia a 9.6 CTLA4 HLA-DRB1
27 alopecia areata 9.6 AIRE CTLA4 PTPN22
28 hashimoto thyroiditis 9.6 AIRE CTLA4 PTPN22
29 palindromic rheumatism 9.6 HLA-DRB1 PTPN22
30 temporal arteritis 9.6 HLA-DRB1 PTPN22
31 celiac disease 1 9.6 CTLA4 PTPN22
32 bone inflammation disease 9.6 HLA-DRB1 PTPN22
33 lupus erythematosus 9.4 CTLA4 NLRP1 PTPN22
34 hypersensitivity reaction disease 9.3 AIRE CTLA4 HLA-DRB1
35 autoimmune hepatitis 9.3 AIRE CTLA4 HLA-DRB1
36 vogt-koyanagi-harada disease 9.1 HLA-DRB1 NLRP1 PTPN22
37 psoriatic arthritis 9.0 HLA-DRB1 PTPN22
38 arthritis 9.0 HLA-DRB1 NLRP1 PTPN22
39 vitiligo-associated multiple autoimmune disease susceptibility 1 8.9 AIRE CTLA4 NLRP1 PTPN22
40 inflammatory bowel disease 8.7 CTLA4 HLA-DRB1 PTPN22
41 graves' disease 8.7 AIRE CTLA4 HLA-DRB1 PTPN22
42 diabetes mellitus, insulin-dependent 8.7 AIRE CTLA4 HLA-DRB1 PTPN22
43 diabetes mellitus 8.6 AIRE CTLA4 HLA-DRB1 PTPN22
44 rheumatoid arthritis 8.4 CTLA4 HLA-DRB1 NLRP1 PTPN22
45 systemic lupus erythematosus 8.4 CTLA4 HLA-DRB1 NLRP1 PTPN22
46 autoimmune disease 8.0 AIRE CTLA4 HLA-DRB1 NLRP1 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:

26 (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 HLA-DRB1 AIRE 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 HLA-DRB1 AIRE
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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4 174722-31-7 10201696
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Cosyntropin Approved Phase 4 16960-16-0 16129617
5 Prednisolone acetate Phase 4
6 Methylprednisolone acetate Phase 4
7 Methylprednisolone Hemisuccinate Phase 4
8 Hormone Antagonists Phase 4
9 Hormones Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Prednisolone hemisuccinate Phase 4
12 Prednisolone phosphate Phase 4
13 Antirheumatic Agents Phase 4

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

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:

41
Kidney, Adrenal Gland, 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
Autoimmune Addison disease: pathophysiology and genetic complexity. ( 22290360 )
2012
3
Autoimmunity: autoimmune Addison disease and premature ovarian failure. ( 21750509 )
2011
4
Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. ( 19808197 )
2009
5
Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry. ( 19858318 )
2009
6
T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency. ( 19890026 )
2009
7
Paraneoplastic neurologic syndrome and autoimmune Addison disease in a patient with thymoma. ( 15654180 )
2005
8
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 11.65 CTLA4 NLRP1 PTPN22
2
Show member pathways
11.29 HLA-DRB1 PTPN22
3 11.11 CTLA4 HLA-DRB1
4 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 response GO:0006955 9.43 AIRE CTLA4 HLA-DRB1
2 T cell costimulation GO:0031295 9.16 CTLA4 HLA-DRB1
3 negative regulation of T cell proliferation GO:0042130 8.96 CTLA4 HLA-DRB1
4 immune system process GO:0002376 8.92 CTLA4 HLA-DRB1 NLRP1 PTPN22

Sources for Autoimmune Addison Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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