MCID: ADD001
MIFTS: 68

Addison's Disease malady

Genetic diseases, Rare diseases, Endocrine diseases categories
Download this MalaCard

Summaries for Addison's Disease

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MedlinePlus:34 Your adrenal glands are just above your kidneys. the outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. addison disease happens if the adrenal glands don't make enough of these hormones. a problem with your immune system usually causes addison disease. the immune system mistakenly attacks your own tissues, damaging your adrenal glands. other causes include infections and cancer. symptoms include weight loss muscle weakness fatigue that gets worse over time low blood pressure patchy or dark skin lab tests can confirm that you have addison disease. if you don't treat it, it can be fatal. you will need to take hormone pills for the rest of your life. if you have addison disease, you should carry an emergency id. it should say that you have the disease, list your medicines and say how much you need in an emergency. nih: national institute of diabetes and digestive and kidney diseases

MalaCards: Addison's Disease, also known as addison disease, is related to precocious puberty and hypoparathyroidism. An important gene associated with Addison's Disease is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), and among its related pathways are Steroid hormone biosynthesis and Corticotropin-releasing hormone. The drugs dexamethasone and fludrocortisone and the compounds 3beta-hydroxy-delta5-steroid and cortrosyn have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and testes, and related mouse phenotypes are growth/size/body and endocrine/exocrine gland.

Disease Ontology:8 An adrenal cortical hypofunction that is characterized by insufficient steriod hormone production by the adrenal glands.

NIH Rare Diseases:43 Addison's disease is a condition that occurs when the adrenal glands do not produce enough of their hormones. this condition can be caused by damage to the adrenal glands, autoimmune conditions, and certain genetic conditions. some of the symptoms include changes in blood pressure, chronic diarrhea, darkening of the skin, paleness, extreme weakness, fatigue, nausea and vomiting, salt craving, and weight loss. treatment with replacement corticosteroids usually controls the symptoms. last updated: 4/28/2011

Description from OMIM:47 103230,240200

Aliases & Classifications for Addison's Disease

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 49Orphanet, 47OMIM, 34MedlinePlus, 62UMLS, 10DISEASES, 45Novoseek, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

49
addison disease:
Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

addison's disease 8 43
addison disease 8 43 49 47 34 62
addisons disease 10 45
adrenocortical hypofunction, chronic primary congenital 8
addison disease, chronic adrenal insufficiency 8
addison's disease due to autoimmunity 62
primary adrenocortical insufficiency 8
adrenal cortical hypofunction 62
hypoadrenocorticism, familial 8
hypoadrenocorticism familial 43
autoimmune addison's disease 49
adrenal gland hypofunction 43
primary addison's disease 49
classic addison's disease 49
autoimmune adrenalitis 49
primary hypoadrenalism 8
adrenal hypoplasia 43
adrenal aplasia 43


External Ids:

Disease Ontology8 DOID:13774
MeSH35 D000224
NCIt40 C26689
MESH via Orphanet36 D000224
ICD10 via Orphanet26 E27.1
SNOMED-CT via Orphanet59 363732003, 76715008
UMLS via Orphanet63 C0001403, C0271737

Related Diseases for Addison's Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Addison's Disease family:

Autoimmune Addison Disease

Diseases related to Addison's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1precocious puberty30.4POMC, CYP21A2
2hypoparathyroidism30.3AIRE, CTLA4
3myasthenia gravis30.3AIRE, CTLA4
4achalasia30.3POMC, MC2R
5vitiligo30.3CTLA4, POMC, AIRE
6hypothyroidism30.3CTLA4, POMC, AIRE
7cushing's syndrome30.2CYP21A2, POMC
8diabetes mellitus30.2POMC, CYP27B1, AIRE, CTLA4
9triple-a syndrome29.9MC2R, POMC
10thymoma29.9CTLA4, AIRE
11hyperandrogenism29.9CYP11A1, POMC, CYP21A2
12autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia29.9CYP11A1, AIRE, CYP21A2
13adrenal adenoma29.8POMC, MC2R, CYP21A2, CYP11A1
14adenoma29.7POMC, CTLA4, CYP11A1, CYP21A2, MC2R
15x-linked adrenal hypoplasia congenita10.9
16adrenocortical insufficiency10.8
17hypogonadism10.7
18hypogonadotropism10.6
19hypoadrenalism10.5
20autoimmune addison disease10.4
21dosage-sensitive sex reversal10.4
22intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.4
23polymyalgia rheumatica10.2
24muscular dystrophy10.2
25hyperglycerolemia10.2
26chronic fatigue syndrome10.2
27hyperprolactinemia10.2
28laugier-hunziker syndrome10.2
29glucocorticoid deficiency, due to acth unresponsiveness10.2
30adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.2
31inherited isolated adrenal insufficiency due to cyp11a1 deficiency10.2
32congenital adrenal hypoplasia of maternal cause10.2
33familial adrenal hypoplasia with absent pituitary luteinizing hormone10.2
34adrenocortical insufficiency, without ovarian defect10.2
35adrenoleukodystrophy10.2
36duchenne muscular dystrophy10.1
37pseudohermaphroditism10.1
38image syndrome10.1
39isolated x-linked adrenal hypoplasia congenita10.1
40complex glycerol kinase deficiency10.1
41antley-bixler syndrome10.1CYP21A2
42alopecia10.1AIRE
43pulmonary tuberculosis10.1
44tuberculosis10.1
45autoimmune polyendocrinopathy type 210.1
46autoimmune hepatitis10.0AIRE, CTLA4
47acute adrenal insufficiency10.0CYP21A2, POMC
48celiac disease10.0CYP21A2, CTLA4
49thyroiditis10.0POMC, CTLA4
50hyperaldosteronism10.0CYP21A2, POMC

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



Diseases related to addison's disease

Symptoms for Addison's Disease

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

103230

Clinical features from OMIM:

103230,240200

Drugs & Therapeutics for Addison's Disease

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Genetic Tests for Addison's Disease

About this section

Anatomical Context for Addison's Disease

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Addison's Disease:

33
Adrenal gland, Skin, Testes, Kidney, Thyroid, Bone, Pituitary, Cortex, T cells, Adrenal cortex, Liver, Heart, B cells, Prostate

Animal Models for Addison's Disease or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Addison's Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.7POMC, MC2R, CYP11A1, CYP27B1, AIRE
2MP:00053797.3CTLA4, POMC, MC2R, CYP11A1, CYP27B1, AIRE
3MP:00053977.3AIRE, CYP27B1, CYP11A1, MC2R, POMC, CTLA4
4MP:00053877.2AIRE, CYP27B1, CYP11A1, MC2R, POMC, CTLA4
5MP:00053767.0AIRE, CYP27B1, CYP11A1, MC2R, POMC, CTLA4

Publications for Addison's Disease

About this section
Sources:
52PubMed
See all sources

Articles related to Addison's Disease:

(show top 50)    (show all 524)
idTitleAuthorsYear
1
Adrenal steroidogenesis after B lymphocyte depletion therapy in new-onset Addison's disease. (22767640)
2012
2
Addison's disease masked by long-term exogenous steroid treatment for presumed polymyalgia rheumatica. (22372233)
2012
3
First presentation of Addison's disease in the 2nd trimester of pregnancy. (21534762)
2011
4
Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison's disease. (20631027)
2010
5
Addison's disease. (19574315)
2009
6
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (18946481)
2009
7
Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on bone. (19282465)
2009
8
The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. (19961590)
2009
9
Addison's disease with pituitary hyperplasia: a case report and review of the literature. (19357821)
2009
10
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. (22980466)
2008
11
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
12
Continuous subcutaneous hydrocortisone infusion in Addison's disease. (17609409)
2007
13
Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome. (18088406)
2007
14
Akinetic mutism followed by a manic reaction on introduction of steroid replacement for Addison's disease. (16682841)
2006
15
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. (16672758)
2006
16
Liquorice and canine Addison's disease. (16012593)
2005
17
A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. (15956353)
2005
18
Addison's disease. (15518054)
2004
19
Primary adrenal lymphoma presenting as Addison's disease: case report and review of the literature. (14730391)
2004
20
GH-releasing peptide (GHRP-6)-induced ACTH release in patients with addison's disease: effect of glucocorticoid withdrawal. (12739742)
2003
21
Focal segmental glomerular sclerosis in two patients with Addison's disease: any more than fortuitous development of glomerular disease? (12169875)
2002
22
A critical evaluation of signs and symptoms in the diagnosis of Addison's disease. (12421050)
2002
23
Addison's disease should be diagnosed biochemically. (11464833)
2001
24
Uses of error: Addison's disease in pregnancy. (11330268)
2001
25
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. (10664529)
2000
26
Oral dehydroepiandrosterone (DHEA) replacement therapy in women with Addison's disease. (10848883)
2000
27
Improvement in mood and fatigue after dehydroepiandrosterone replacement in Addison's disease in a randomized, double blind trial. (11134123)
2000
28
Diagnosis and management of Addison's disease. (11048377)
2000
29
Is the prevalence of Addison's disease underestimated? (10323417)
1999
30
Addison's disease mimicking anorexia nervosa. (9793734)
1998
31
A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease. (9486414)
1998
32
A case of non-Hodgkin's lymphoma following long-term corticosteroid therapy for Addison's disease. (9822970)
1998
33
Where you go depends on where you are. Early investigations on the use of deoxycorticosterone in Addison's disease: a historical vignette. (9589633)
1998
34
Structure and Determinants of Illness Representations in Chronic Disease: A Comparison of Addison's Disease and Chronic Fatigue Syndrome. (22021411)
1998
35
Pseudotumor cerebri: a presenting manifestation of Addison's disease. (9415840)
1997
36
Clinical problem-solving: identifying Addison's disease. (8614435)
1996
37
Addison's disease. Hydrocortisone should be started immediately adrenal insufficiency is considered. (8761251)
1996
38
Associated autoimmunity in Addison's disease. (7734032)
1995
39
Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. (8106620)
1994
40
Effect of atrial natriuretic factor infusion on basal and CRH-stimulated ACTH, cortisol and aldosterone levels in patients with Cushing's or Addison's disease. (8013139)
1994
41
Lymphoma presenting with Addison's disease. (1589387)
1992
42
Addison's disease. (2008821)
1991
43
Association of Addison's disease with autoimmune disorders--a long-term observation of 180 patients. (1775423)
1991
44
X-ray microanalysis of ossified auricles in Addison's disease. (1901512)
1991
45
A study of cadaveric fetal adrenal used for adrenal transplantation to treat Addison's disease: thirteen cases reported. (2309329)
1990
46
Persistent hypersecretion of ACTH in treated Addison's disease. (2166161)
1990
47
Lithium treatment of a patient with Addison's disease and affective psychosis. (2717662)
1989
48
Polyradiculoneuropathy in Addison's disease. Case report and review of literature. (558557)
1977
49
A clinical and immunological study of adrenocortical insufficiency (Addison's disease). (5340030)
1967
50
Chronic pyelonephritis simulating Addison's disease. (15413207)
1950

Variations for Addison's Disease

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Addison's Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1ABCD1NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu)single nucleotide variantPathogenicrs128624225GRCh37Chr X, 153008477: 153008477
2ABCD1ABCD1, 1-BP DEL, 2204GdeletionPathogenic

Expression for genes affiliated with Addison's Disease

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Addison's Disease

Search GEO for disease gene expression data for Addison's Disease.

Pathways for genes affiliated with Addison's Disease

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 60Thomson Reuters
See all sources

Pathways related to Addison's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
9.3CYP21A2, CYP11A1
28.7CYP11A1, CYP21A2, POMC
3
Show member pathways
8.2CYP27B1, CYP11A1, CYP21A2, POMC
4
Show member pathways
8.2CYP11A1, CYP27B1, CYP21A2, POMC
5
Show member pathways
8.2POMC, CYP27B1, CYP11A1, CYP21A2

Compounds for genes affiliated with Addison's Disease

About this section
Sources:
45Novoseek, 24HMDB, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB, 3BitterDB
See all sources

Compounds related to Addison's Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
13beta-hydroxy-delta5-steroid459.9CYP21A2, POMC
2cortrosyn459.9POMC, CYP21A2
321-deoxycortisol45 2410.9POMC, CYP21A2
4nafarelin45 61 29 1112.8CYP21A2, POMC
5fludrocortisone45 29 1111.8POMC, CYP21A2
6cortisol29 2410.8POMC, CYP21A2
717-hydroxypregnenolone459.8CYP21A2, POMC
811 deoxycortisol459.8CYP21A2, POMC
9cortisone45 2410.7POMC, CYP21A2
10alpha-msh61 2910.7MC2R, POMC
11hs 014619.7MC2R, POMC
1217a-Hydroxypregnenolone249.7CYP11A1, CYP21A2
13pg 106619.7POMC, MC2R
14spironolactone45 61 29 51 1113.7CYP21A2, POMC
15[d-trp8]-gamma-msh619.7POMC, MC2R
16Pregnenolone24 1110.7CYP11A1, CYP21A2
17shu 911961 4510.7POMC, MC2R
18metyrapone45 61 1111.4POMC, CYP21A2, MC2R
19hydrocortisone45 3 61 1112.3POMC, CYP21A2, MC2R
20clotrimazole29 45 24 1112.3CYP27B1, CYP11A1
2117beta-hydroxysteroid459.2CYP21A2, CYP11A1
2225-hydroxyvitamin d459.2CYP27B1, CYP11A1
23doca459.1CYP21A2, CYP11A1, POMC
24heme29 24 1111.1CYP21A2, CYP27B1, CYP11A1
2517-hydroxyprogesterone45 2410.1CYP21A2, CYP11A1, POMC
26chloramphenicol45 3 51 1112.1CYP27B1, CYP11A1, CYP21A2
27corticosterone45 61 2411.0CYP11A1, CYP21A2, POMC
28gnrh458.9CYP21A2, POMC, CYP11A1
29glucose458.8CYP21A2, CYP27B1, CTLA4, POMC
30ketoconazole45 29 24 1111.7CYP11A1, CYP27B1, CYP21A2, POMC
31acth 1-24458.6POMC, MC2R, CYP21A2, CYP11A1
32estradiol45 24 1110.6CYP27B1, CYP21A2, POMC, CYP11A1
33aminoglutethimide45 119.6MC2R, CYP21A2, POMC, CYP11A1
3411beta-hydroxysteroid458.6MC2R, POMC, CYP11A1, CYP21A2
353beta-hydroxysteroid458.6CYP21A2, CYP11A1, MC2R, POMC
36dehydroepiandrosterone sulfate458.6CYP11A1, CYP21A2, MC2R, POMC
37dhea458.6CYP21A2, POMC, MC2R, CYP11A1
38androstenedione45 249.6MC2R, CYP11A1, CYP21A2, POMC
39ribonucleic acid458.6CYP11A1, CYP21A2, POMC, MC2R
40nadph45 249.6CYP11A1, CYP27B1, CYP21A2
41cycloheximide458.5CYP11A1, CYP27B1, CYP21A2, POMC
42lipid458.4CYP21A2, CYP11A1, CYP27B1, CTLA4
43cholesterol45 29 24 1111.3CTLA4, MC2R, CYP21A2, CYP11A1, CYP27B1
44estrogen458.2CYP27B1, CYP21A2, POMC, CTLA4, CYP11A1
45dexamethasone45 51 29 1111.2CTLA4, POMC, CYP11A1, CYP21A2, MC2R
46forskolin45 51 1110.1POMC, MC2R, CYP21A2, CYP11A1, CYP27B1
47testosterone45 61 24 1111.1CYP11A1, CYP21A2, MC2R, CYP27B1, POMC
48acth458.1CYP21A2, POMC, MC2R, CYP11A1, MRAP
49calcium45 51 24 1111.0CTLA4, CYP11A1, CYP27B1, CYP21A2, MC2R
50steroid457.7CYP11A1, CYP27B1, CYP21A2, MC2R, POMC, CTLA4

GO Terms for genes affiliated with Addison's Disease

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Addison's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide signaling pathwayGO:0072189.3MC2R, POMC
2vitamin D metabolic processGO:0423599.3CYP11A1, CYP27B1
3sterol metabolic processGO:0161259.2CYP21A2, CYP11A1
4positive regulation of cAMP biosynthetic processGO:0308199.1MC2R, MRAP
5steroid metabolic processGO:0082029.0CYP27B1, CYP11A1, CYP21A2
6xenobiotic metabolic processGO:0068058.9CYP27B1, CYP11A1, CYP21A2

Molecular functions related to Addison's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1type 1 melanocortin receptor bindingGO:0709969.4MRAP, POMC
2type 4 melanocortin receptor bindingGO:0317829.3MRAP, POMC
3type 3 melanocortin receptor bindingGO:0317819.2MRAP, POMC
4iron ion bindingGO:0055068.9CYP27B1, CYP11A1, CYP21A2
5heme bindingGO:0200378.6CYP27B1, CYP11A1, CYP21A2

Products for genes affiliated with Addison's Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Addison's Disease

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet