MCID: ATM078
MIFTS: 31

Autoimmune Addison Disease

Categories: Endocrine diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Autoimmune Addison Disease

MalaCards integrated aliases for Autoimmune Addison Disease:

Name: Autoimmune Addison Disease 25
Autoimmune Primary Adrenal Insufficiency 69
Addison's Disease Due to Autoimmunity 69
Autoimmune Addison's Disease 25
Classic Addison Disease 25
Primary Addison Disease 25
Autoimmune Adrenalitis 25

Classifications:



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 addison's disease and autoimmune polyendocrine syndrome, type ii. 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 Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include kidney, adrenal gland and pituitary, and related phenotype is Increased shRNA abundance (Z-score > 2).

Related Diseases for Autoimmune Addison Disease

Diseases in the Addison's Disease family:

Autoimmune Addison Disease

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 addison's disease 11.2
2 autoimmune polyendocrine syndrome, type ii 10.9
3 atrichia with papular lesions 10.3 AIRE CYP21A2
4 anterior segment dysgenesis 1, multiple subtypes 10.2 AIRE CTLA4
5 kunjin encephalitis 10.2 AIRE CYP21A2
6 congenital heart defects, nonsyndromic, 2 10.1 AIRE CTLA4
7 antigen-peptide-transporter 2 deficiency 10.1 CTLA4 PTPN22
8 leukemia 10.0 AIRE NLRP1
9 lymphoma 10.0 AIRE CTLA4
10 spindle cell thymoma 9.9 AIRE CTLA4
11 dressler's syndrome 9.9 AIRE CYP21A2 PTPN22
12 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 9.9 HLA-DRB1 PTPN22
13 celiac disease 3 9.9 CTLA4 HLA-DRB1
14 autoimmune retinopathy 9.8 CTLA4 HLA-DRB1
15 anencephaly and spina bifida x-linked 9.8 CTLA4 HLA-DRB1
16 thymoma 9.8
17 kernicterus due to isoimmunization 9.8 CTLA4 HLA-DRB1
18 sarcoidosis 1 9.8 CTLA4 PTPN22
19 combined cellular and humoral immune defects with granulomas 9.8 AIRE CTLA4 PTPN22
20 cd3zeta deficiency 9.8 AIRE CTLA4 PTPN22
21 moderately severe hemophilia b 9.8 CTLA4 HLA-DRB1
22 intestinal disaccharidase deficiency 9.7 AIRE CTLA4 PTPN22
23 diabetes mellitus, insulin-dependent, 12 9.7 AIRE CTLA4 PTPN22
24 patau syndrome 9.7 HLA-DRB1 PTPN22
25 macroglobulinemia, waldenstrom 1 9.7 CTLA4 PTPN22
26 myasthenia gravis 9.7
27 dermatitis herpetiformis, familial 9.7 HLA-DRB1 PTPN22
28 mesenchymal cell neoplasm 9.7 HLA-DRB1 PTPN22
29 kaposi sarcoma 9.5 HLA-DRB1 PTPN22
30 asthma 9.5
31 glomerulonephritis 9.5
32 membranoproliferative glomerulonephritis 9.5
33 actinic keratosis 9.5 CTLA4 NLRP1 PTPN22
34 bartter disease 9.4 AIRE CTLA4 HLA-DRB1
35 pulsating exophthalmos 9.4 CTLA4 HLA-DRB1 PTPN22
36 hypermobility syndrome 9.4 AIRE CTLA4 CYP21A2 PTPN22
37 anterior corneal pigmentation 9.3 HLA-DRB1 NLRP1 PTPN22
38 leprosy 4 9.2 HLA-DRB1 PTPN22
39 atherosclerosis 9.2 HLA-DRB1 NLRP1 PTPN22
40 autoinflammation with arthritis and dyskeratosis 9.1 AIRE CTLA4 NLRP1 PTPN22
41 pseudohypoparathyroidism 8.9 AIRE CTLA4 HLA-DRB1 PTPN22
42 hepatic adenoma, somatic 8.9 AIRE CTLA4 HLA-DRB1 PTPN22
43 rheumatoid arthritis 8.7 CTLA4 HLA-DRB1 NLRP1 PTPN22
44 systemic lupus erythematosus 8.7 CTLA4 HLA-DRB1 NLRP1 PTPN22
45 clopidogrel resistance 7.9 AIRE CTLA4 CYP21A2 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
id 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 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 top 50) (show all 74)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 51-43-4 5816
2
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-23-7 5754 657311
3 Racepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1
4
Cosyntropin Approved Phase 4 16960-16-0 16129617
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
rituximab Approved Phase 4 174722-31-7 10201696
8
Cortisone acetate Approved Phase 4 1950-04-4, 50-04-4 5745
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
10
Menthol Approved Phase 4 2216-51-5 16666
11
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
12
Butyric Acid Experimental Phase 4,Phase 2,Phase 3,Phase 1 107-92-6 264
13 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
14 Cortisol succinate Phase 4,Phase 2,Phase 3,Phase 1
15 Epinephryl borate Phase 4,Phase 3,Phase 2,Phase 1
16 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1
17 Hydrocortisone acetate Phase 4,Phase 2,Phase 3,Phase 1
18 Hydrocortisone-17-butyrate Phase 4,Phase 2,Phase 3,Phase 1
19 Hormone Antagonists Phase 4,Phase 2,Phase 3
20 Hormones Phase 4,Phase 2,Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
22 Antirheumatic Agents Phase 4,Phase 2
23 Methylprednisolone acetate Phase 4
24 Methylprednisolone Hemisuccinate Phase 4
25 Prednisolone acetate Phase 4
26 Prednisolone hemisuccinate Phase 4
27 Prednisolone phosphate Phase 4
28
Cortisone Phase 4 53-06-5 222786
29 glucocorticoids Phase 4,Phase 2,Phase 3
30 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1
32 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1
33 Adrenergic beta-Agonists Phase 4,Phase 2,Phase 3,Phase 1
34 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1
35 Antiemetics Phase 4
36 Antineoplastic Agents, Hormonal Phase 4,Phase 2
37 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
38 BB 1101 Phase 4
39 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1
40 Dexamethasone acetate Phase 4 1177-87-3
41 Gastrointestinal Agents Phase 4
42 HIV Protease Inhibitors Phase 4
43 Mydriatics Phase 4,Phase 2,Phase 3,Phase 1
44 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
45 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
46
protease inhibitors Phase 4
47 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
48 Vasoconstrictor Agents Phase 4,Phase 2,Phase 3,Phase 1
49
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
50
Dehydroepiandrosterone Approved, Nutraceutical Phase 3 53-43-0 9860744

Interventional clinical trials:

(show all 25)

id 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 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
4 Test Predicting Adrenal Insufficiency in Volunteers Under Prednisone Treatment Completed NCT00975078 Phase 4 prednisone
5 A Study of Markers of Glucocorticoid Effects in Patients With Addisons Disease (DOSCORT) Not yet recruiting NCT03210545 Phase 4 Dexamethasone
6 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3 Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
7 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
8 Once-daily Oral Modified Release Hydrocortisone in Patients With Adrenal Insufficiency Completed NCT00915343 Phase 2, Phase 3 hydrocortisone (modified release), oral tablet 20 and 5 mg;Hydrocortisone, oral tablet, 10 mg
9 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
10 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Failure Unknown status NCT01847690 Phase 2 Hydrocortisone
11 Continuous Subcutaneous Hydrocortisone Infusion In Addison`s Disease and Type 1 Diabetes Completed NCT01840189 Phase 2
12 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
13 Vaginal Prednisone Administration for Prevention of Adrenal Crisis Completed NCT02689960 Phase 2 100mg prednisone suppository
14 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
15 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Recruiting NCT03123016 Phase 2 Apremilast
16 Exercise Capacity and Recovery in Addison's Disease Unknown status NCT01657123
17 Effects and Interactions of Liquorice and Grapefruit on Glucocorticoid Replacement Therapy in Addison's Disease Completed NCT01271296
18 Biomarker(s) for Glucocorticoids Completed NCT02152553 Hydrocortisone;Placebo
19 Counterregulatory Hormone Production in Adrenal Insufficiency and Diabetes Type I Completed NCT01452893
20 Adrenal Function After Living Kidney Donation Completed NCT00251836
21 Survey in Patients With Chronic Adrenal Insufficiency in Germany Completed NCT00444119
22 The Hypothalamic-Pituitary-Adrenal (HPA) Axis as an Effector System in Weight Regulation Completed NCT00688987 Hydrocortisone
23 Dose Response Relationship for Single Doses of Corticotropin Releasing Hormone (CRH) in Normal Volunteers and in Patients With Adrenal Insufficiency Completed NCT00001180 Ovine Corticotropin-Releasing Hormone (oCRH)
24 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
25 Gene Polymorphisms Influencing Steroid Synthesis and Action Withdrawn NCT00485186

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:

39
Kidney, Adrenal Gland, Pituitary, Testes

Publications for Autoimmune Addison Disease

Articles related to Autoimmune Addison Disease:

id 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:

id Super pathways Score Top Affiliating Genes
1 11.63 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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