MCID: ADD001
MIFTS: 72

Addison's Disease malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Addison's Disease

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MedlinePlus:33 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 based summary: Addison's Disease, also known as addison disease, is related to precocious puberty and hypoparathyroidism, and has symptoms including An important gene associated with Addison's Disease is ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1), 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 nervous system and behavior/neurological.

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

NIH Rare Diseases:42 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

Descriptions from OMIM:46 103230,240200

Aliases & Classifications for Addison's Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 33MedlinePlus, 62UMLS, 10DISEASES, 44Novoseek, 57SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Addison's Disease, Aliases & Descriptions:

Name: Addison's Disease 8 42
Addison Disease 8 42 48 46 33 62
Primary Adrenocortical Insufficiency 8 62
Autoimmune Addison's Disease 48 62
Adrenal Gland Hypofunction 42 62
Autoimmune Adrenalitis 48 62
Primary Hypoadrenalism 8 62
Adrenal Hypoplasia 42 62
 
Addisons Disease 10 44
Adrenal Aplasia 42 62
Adrenocortical Hypofunction, Chronic Primary Congenital 8
Addison Disease, Chronic Adrenal Insufficiency 8
Hypoadrenocorticism, Familial 8
Hypoadrenocorticism Familial 42
Classic Addison's Disease 48
Primary Addison's Disease 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
addison disease:
Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:13774
MeSH34 D000224
NCIt39 C26689
ICD9CM27 255.4
MESH via Orphanet35 D000224
ICD10 via Orphanet26 E27.1
UMLS via Orphanet63 C0001403, C0271737

Related Diseases for Addison's Disease

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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 puberty30.8CYP21A2, POMC
2hypoparathyroidism30.7CTLA4, AIRE
3triple-a syndrome30.7POMC, MC2R
4cushing's syndrome30.6CYP21A2, POMC
5achalasia30.6MC2R, POMC
6adrenoleukodystrophy30.5CYP21A2, ABCD1
7vitiligo30.4CTLA4, POMC, AIRE
8hypothyroidism30.4CTLA4, POMC, AIRE
9thymoma30.4CTLA4, AIRE
10myasthenia gravis30.3CTLA4, AIRE
11diabetes mellitus30.1AIRE, CYP27B1, POMC, CTLA4
12autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.1CYP21A2, CYP11A1, AIRE
13hyperandrogenism30.0CYP11A1, CYP21A2, POMC
14adrenal adenoma29.7POMC, MC2R, CYP21A2, CYP11A1
15adenoma29.4CYP11A1, CYP21A2, MC2R, POMC, CTLA4
16x-linked adrenal hypoplasia congenita10.9
17hypogonadism10.7
18hypogonadotropism10.6
19autoimmune addison disease10.5
20hypoadrenalism10.5
21antley-bixler syndrome10.5CYP21A2
22dosage-sensitive sex reversal10.5
23intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.4
24alopecia10.4AIRE
25image syndrome10.3
26acute adrenal insufficiency10.3POMC, CYP21A2
27thyroiditis10.3CTLA4, POMC
28polymyalgia rheumatica10.3
29autoimmune hepatitis10.2CTLA4, AIRE
30hyperaldosteronism10.2POMC, CYP21A2
31adrenal gland hyperfunction10.2POMC, CYP21A2
32hypopituitarism10.2CYP21A2, POMC
33muscular dystrophy10.2
34hyperglycerolemia10.2
35familial glucocorticoid deficiency10.2POMC, MC2R
36autoimmune polyendocrine syndrome10.2CYP11A1, AIRE
37celiac disease10.2CYP21A2, CTLA4
38hyperprolactinemia10.2
39chronic fatigue syndrome10.2
40laugier-hunziker syndrome10.2
41glucocorticoid deficiency, due to acth unresponsiveness10.2
42adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.2
43inherited isolated adrenal insufficiency due to cyp11a1 deficiency10.2
44congenital adrenal hypoplasia of maternal cause10.2
45familial adrenal hypoplasia with absent pituitary luteinizing hormone10.2
46adrenocortical insufficiency, without ovarian defect10.2
47polycystic ovary syndrome10.2CYP21A2, CYP11A1
48schimke immunoosseous dysplasia10.2AIRE, CYP21A2, MC2R
49primary biliary cirrhosis10.2CTLA4, AIRE
50duchenne muscular dystrophy10.1

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



Diseases related to addison's disease

Symptoms for Addison's Disease

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Symptoms by clinical synopsis from OMIM:

103230

Clinical features from OMIM:

103230,240200

HPO human phenotypes related to Addison's Disease:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 adrenal insufficiency HP:0000846
3 hyperpigmentation of the skin HP:0000953
4 hypernatriuria HP:0012605
5 autosomal recessive inheritance HP:0000007
6 adrenal hypoplasia HP:0000835
7 adrenal insufficiency HP:0000846
8 cyanosis HP:0000961
9 abnormality of skin pigmentation HP:0001000
10 seizures HP:0001250
11 abnormality of the cardiovascular system HP:0001626
12 hypoglycemia HP:0001943
13 vomiting HP:0002013
14 apnea HP:0002104
15 hyperkalemia HP:0002153
16 hyponatremia HP:0002902
17 feeding difficulties in infancy HP:0008872

Genetic Tests for Addison's Disease

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Anatomical Context for Addison's Disease

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MalaCards organs/tissues related to Addison's Disease:

32
Adrenal gland, Skin, Testes, Kidney, Thyroid, Bone, Pituitary, T cells, Cortex, Adrenal cortex, Heart, Liver, Prostate, B cells

Animal Models for Addison's Disease or affiliated genes

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MGI Mouse Phenotypes related to Addison's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8POMC, MC2R, CYP11A1, AIRE, ABCD1
2MP:00053867.5ABCD1, AIRE, CYP11A1, MC2R, POMC
3MP:00053797.1CTLA4, ABCD1, AIRE, CYP27B1, CYP11A1, MC2R
4MP:00053977.0ABCD1, AIRE, CYP27B1, CYP11A1, MC2R, POMC
5MP:00053877.0ABCD1, AIRE, CYP27B1, CYP11A1, MC2R, POMC
6MP:00053766.8ABCD1, AIRE, CYP27B1, CYP11A1, MC2R, POMC

Publications for Addison's Disease

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Articles related to Addison's Disease:

(show top 50)    (show all 543)
idTitleAuthorsYear
1
Interleukin-2 and subunit alpha of its soluble receptor in autoimmune Addison's disease - An association study and expression analysis. (25347332)
2014
2
Continuous Subcutaneous Hydrocortisone Infusion Therapy in Addison's Disease: A Randomized, Placebo-Controlled Clinical Trial. (25127090)
2014
3
Adrenal steroidogenesis after B lymphocyte depletion therapy in new-onset Addison's disease. (22767640)
2012
4
Addison's disease masked by long-term exogenous steroid treatment for presumed polymyalgia rheumatica. (22372233)
2012
5
First presentation of Addison's disease in the 2nd trimester of pregnancy. (21534762)
2011
6
Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison's disease. (20631027)
2010
7
Addison's disease. (19574315)
2009
8
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (18946481)
2009
9
Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on bone. (19282465)
2009
10
The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. (19961590)
2009
11
Addison's disease with pituitary hyperplasia: a case report and review of the literature. (19357821)
2009
12
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. (22980466)
2008
13
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
14
Continuous subcutaneous hydrocortisone infusion in Addison's disease. (17609409)
2007
15
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
16
Akinetic mutism followed by a manic reaction on introduction of steroid replacement for Addison's disease. (16682841)
2006
17
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. (16672758)
2006
18
Liquorice and canine Addison's disease. (16012593)
2005
19
A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. (15956353)
2005
20
Addison's disease. (15518054)
2004
21
GH-releasing peptide (GHRP-6)-induced ACTH release in patients with addison's disease: effect of glucocorticoid withdrawal. (12739742)
2003
22
Focal segmental glomerular sclerosis in two patients with Addison's disease: any more than fortuitous development of glomerular disease? (12169875)
2002
23
A critical evaluation of signs and symptoms in the diagnosis of Addison's disease. (12421050)
2002
24
Addison's disease should be diagnosed biochemically. (11464833)
2001
25
Uses of error: Addison's disease in pregnancy. (11330268)
2001
26
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
27
Oral dehydroepiandrosterone (DHEA) replacement therapy in women with Addison's disease. (10848883)
2000
28
Improvement in mood and fatigue after dehydroepiandrosterone replacement in Addison's disease in a randomized, double blind trial. (11134123)
2000
29
Diagnosis and management of Addison's disease. (11048377)
2000
30
Is the prevalence of Addison's disease underestimated? (10323417)
1999
31
Addison's disease mimicking anorexia nervosa. (9793734)
1998
32
A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease. (9486414)
1998
33
A case of non-Hodgkin's lymphoma following long-term corticosteroid therapy for Addison's disease. (9822970)
1998
34
Where you go depends on where you are. Early investigations on the use of deoxycorticosterone in Addison's disease: a historical vignette. (9589633)
1998
35
Structure and Determinants of Illness Representations in Chronic Disease: A Comparison of Addison's Disease and Chronic Fatigue Syndrome. (22021411)
1998
36
Pseudotumor cerebri: a presenting manifestation of Addison's disease. (9415840)
1997
37
Clinical problem-solving: identifying Addison's disease. (8614435)
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

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Clinvar genetic disease variations for Addison's Disease:

6
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

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Expression patterns in normal tissues for genes affiliated with Addison's Disease

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Pathways for genes affiliated with Addison's Disease

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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 Metabolism37
9.3CYP21A2, CYP11A1
28.7POMC, CYP21A2, CYP11A1
3
Show member pathways
8.2CYP27B1, CYP11A1, CYP21A2, POMC
4
Show member pathways
8.2CYP27B1, CYP11A1, CYP21A2, POMC
5
Show member pathways
8.2POMC, CYP21A2, CYP11A1, CYP27B1
6
Show member pathways
7.9ABCD1, CYP27B1, CYP11A1, CYP21A2, POMC

Compounds for genes affiliated with Addison's Disease

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

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
13beta-hydroxy-delta5-steroid449.9CYP21A2, POMC
2cortrosyn449.9CYP21A2, POMC
321-deoxycortisol44 2410.9POMC, CYP21A2
4nafarelin44 61 28 1112.8CYP21A2, POMC
5fludrocortisone44 28 1111.8POMC, CYP21A2
6cortisol28 2410.8POMC, CYP21A2
717-hydroxypregnenolone449.8POMC, CYP21A2
811 deoxycortisol449.8POMC, CYP21A2
9[d-trp8]-gamma-msh619.7MC2R, POMC
1017a-Hydroxypregnenolone249.7CYP21A2, CYP11A1
11alpha-msh61 2810.7MC2R, POMC
12hs 014619.7MC2R, POMC
13cortisone44 2410.7CYP21A2, POMC
14pg 106619.7MC2R, POMC
15Pregnenolone24 1110.7CYP11A1, CYP21A2
16shu 911961 4410.7MC2R, POMC
17spironolactone44 61 28 50 1113.7POMC, CYP21A2
18metyrapone44 61 1111.4CYP21A2, MC2R, POMC
19clotrimazole28 44 24 1112.3CYP11A1, CYP27B1
20hydrocortisone44 2 61 1112.3CYP21A2, MC2R, POMC
2125-hydroxyvitamin d449.2CYP27B1, CYP11A1
22doca449.1POMC, CYP21A2, CYP11A1
2317-hydroxyprogesterone44 2410.1POMC, CYP21A2, CYP11A1
24heme28 24 1111.1CYP27B1, CYP11A1, CYP21A2
25chloramphenicol44 2 50 1112.1CYP21A2, CYP11A1, CYP27B1
26corticosterone44 61 2411.0POMC, CYP21A2, CYP11A1
2717beta-hydroxysteroid449.0CYP21A2, CYP11A1
28gnrh448.9POMC, CYP21A2, CYP11A1
29nadph44 249.9CYP21A2, CYP11A1, CYP27B1
30glucose448.7CYP27B1, CYP21A2, POMC, CTLA4
31ketoconazole44 28 24 1111.7CYP27B1, CYP11A1, CYP21A2, POMC
32acth 1-24448.6POMC, MC2R, CYP21A2, CYP11A1
33aminoglutethimide44 119.6CYP11A1, CYP21A2, MC2R, POMC
3411beta-hydroxysteroid448.6POMC, MC2R, CYP21A2, CYP11A1
35estradiol44 24 1110.6CYP27B1, CYP11A1, CYP21A2, POMC
363beta-hydroxysteroid448.6CYP11A1, CYP21A2, MC2R, POMC
37dehydroepiandrosterone sulfate448.6CYP11A1, CYP21A2, MC2R, POMC
38dhea448.6CYP11A1, CYP21A2, MC2R, POMC
39androstenedione44 249.6CYP11A1, CYP21A2, MC2R, POMC
40ribonucleic acid448.6CYP11A1, CYP21A2, MC2R, POMC
41cycloheximide448.5CYP27B1, CYP11A1, CYP21A2, POMC
42lipid448.4ABCD1, CYP27B1, CYP11A1, CYP21A2, CTLA4
43estrogen448.2CYP27B1, CYP11A1, CYP21A2, POMC, CTLA4
44dexamethasone44 50 28 1111.2CTLA4, POMC, MC2R, CYP21A2, CYP11A1
45testosterone44 61 24 1111.1CYP27B1, CYP11A1, CYP21A2, MC2R, POMC
46acth448.1MRAP, CYP11A1, CYP21A2, MC2R, POMC
47cholesterol44 28 24 1111.0ABCD1, CYP27B1, CYP11A1, CYP21A2, MC2R, CTLA4
48forskolin44 50 119.8ABCD1, CYP27B1, CYP11A1, CYP21A2, MC2R, POMC
49calcium44 50 24 1110.8CYP27B1, CYP11A1, CYP21A2, MC2R, CTLA4
50steroid447.7CYP27B1, CYP11A1, CYP21A2, MC2R, POMC, CTLA4

GO Terms for genes affiliated with Addison's Disease

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Cellular components related to Addison's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:0057779.5POMC, ABCD1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cAMP biosynthetic processGO:0308199.3MC2R, MRAP
2neuropeptide signaling pathwayGO:0072189.3POMC, MC2R
3vitamin D metabolic processGO:0423599.3CYP11A1, CYP27B1
4sterol metabolic processGO:0161259.3CYP11A1, CYP21A2
5steroid metabolic processGO:0082029.0CYP21A2, CYP11A1, CYP27B1
6xenobiotic metabolic processGO:0068058.9CYP21A2, CYP11A1, CYP27B1
7small molecule metabolic processGO:0442818.2CYP21A2, CYP11A1, CYP27B1, ABCD1

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

idNameGO IDScoreTop Affiliating Genes
1type 1 melanocortin receptor bindingGO:0709969.4POMC, MRAP
2type 3 melanocortin receptor bindingGO:0317819.3POMC, MRAP
3type 4 melanocortin receptor bindingGO:0317829.2POMC, MRAP
4iron ion bindingGO:0055068.9CYP21A2, CYP11A1, CYP27B1
5heme bindingGO:0200378.6CYP27B1, CYP11A1, CYP21A2

Products for genes affiliated with Addison's Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Addison's Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet