MCID: ATM078
MIFTS: 30

Autoimmune Addison Disease

Categories: Endocrine diseases

Aliases & Classifications for Autoimmune Addison Disease

MalaCards integrated aliases for Autoimmune Addison Disease:

Name: Autoimmune Addison Disease 24
Autoimmune Primary Adrenal Insufficiency 69
Addison's Disease Due to Autoimmunity 69
Autoimmune Addison's Disease 24
Classic Addison Disease 24
Primary Addison Disease 24
Autoimmune Adrenalitis 24

Classifications:



External Ids:

Summaries for Autoimmune Addison Disease

Genetics Home Reference : 24 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 adrenal gland and kidney, 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 45)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 31.4 AIRE CTLA4 CYP21A2 PTPN22
2 thymoma 29.8 AIRE CTLA4
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 AIRE CTLA4 PTPN22
4 myasthenia gravis 29.6 AIRE CTLA4
5 autoimmune polyendocrine syndrome, type ii 11.0
6 autoimmune polyendocrine syndrome type 1 10.2 AIRE CYP21A2
7 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 AIRE CYP21A2
8 type 1 diabetes mellitus 17 10.1 AIRE CTLA4
9 anterior uveitis 10.1 CTLA4 PTPN22
10 type 1 diabetes mellitus 5 10.0 AIRE CTLA4
11 keratopathy 10.0 AIRE NLRP1
12 thymoma, familial 9.9
13 type 1 diabetes mellitus 12 9.9 CTLA4 HLA-DRB1
14 adrenal cortical hypofunction 9.9 AIRE CYP21A2 PTPN22
15 rheumatoid factor-negative juvenile idiopathic arthritis 9.9 HLA-DRB1 PTPN22
16 wegener granulomatosis 9.9 CTLA4 PTPN22
17 autoimmune pancreatitis 9.9 CTLA4 HLA-DRB1
18 anca-associated vasculitis 9.9 CTLA4 HLA-DRB1
19 pemphigus foliaceus 9.8 CTLA4 HLA-DRB1
20 sympathetic ophthalmia 9.8 CTLA4 HLA-DRB1
21 oligoarticular juvenile idiopathic arthritis 9.8 HLA-DRB1 PTPN22
22 autoimmune disease of endocrine system 9.8 AIRE CTLA4 PTPN22
23 alopecia areata 9.8 AIRE CTLA4 PTPN22
24 severe hemophilia a 9.8 CTLA4 HLA-DRB1
25 hashimoto thyroiditis 9.8 AIRE CTLA4 PTPN22
26 premature ovarian failure 1 9.8
27 myasthenia gravis congenital 9.8
28 palindromic rheumatism 9.7 HLA-DRB1 PTPN22
29 temporal arteritis 9.7 HLA-DRB1 PTPN22
30 bone inflammation disease 9.7 HLA-DRB1 PTPN22
31 lupus erythematosus 9.6 CTLA4 NLRP1 PTPN22
32 psoriatic arthritis 9.6 HLA-DRB1 PTPN22
33 celiac disease 1 9.6 CTLA4 PTPN22
34 hypersensitivity reaction disease 9.5 AIRE CTLA4 HLA-DRB1
35 autoimmune hepatitis 9.5 AIRE CTLA4 HLA-DRB1
36 graves' disease 9.5 CTLA4 HLA-DRB1 PTPN22
37 vogt-koyanagi-harada disease 9.4 HLA-DRB1 NLRP1 PTPN22
38 arthritis 9.4 HLA-DRB1 NLRP1 PTPN22
39 vitiligo-associated multiple autoimmune disease susceptibility 1 9.3 AIRE CTLA4 NLRP1 PTPN22
40 diabetes mellitus, insulin-dependent 9.2 AIRE CTLA4 HLA-DRB1 PTPN22
41 diabetes mellitus 9.2 AIRE CTLA4 HLA-DRB1 PTPN22
42 inflammatory bowel disease 9.1 CTLA4 HLA-DRB1 PTPN22
43 rheumatoid arthritis 9.0 CTLA4 HLA-DRB1 NLRP1 PTPN22
44 systemic lupus erythematosus 9.0 CTLA4 HLA-DRB1 NLRP1 PTPN22
45 autoimmune disease 8.7 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:

25 (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 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:

38
Adrenal Gland, Kidney

Publications for Autoimmune Addison Disease

Articles related to Autoimmune Addison Disease:

# Title Authors Year
1
Autoimmune Addison disease: pathophysiology and genetic complexity. ( 22290360 )
2012
2
Autoimmunity: autoimmune Addison disease and premature ovarian failure. ( 21750509 )
2011
3
Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. ( 19808197 )
2009
4
Paraneoplastic neurologic syndrome and autoimmune Addison disease in a patient with thymoma. ( 15654180 )
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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