MCID: ADD001
MIFTS: 65

Addison's Disease malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Fetal diseases categories

Summaries for Addison's Disease

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MedlinePlus:32 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 achalasia-addisonianism-alacrimia syndrome, and has symptoms including autosomal recessive inheritance, adrenal hypoplasia and adrenal insufficiency. 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 cortrosyn and 3beta-hydroxy-delta5-steroid have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, pituitary and skin, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:9 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 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

Aliases & Classifications for Addison's Disease

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 32MedlinePlus, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Addison's Disease, Aliases & Descriptions:

Name: Addison's Disease 9 41
Addison Disease 9 41 47 32 60
Autoimmune Adrenalitis 41 21 47
Familial Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 41 47
Familial Adrenal Hypoplasia with Absent Pituitary Lh 41 47
Familial Adrenal Hypoplasia, Miniature Type 41 47
Autoimmune Addison's Disease 21 47
Adrenal Gland Hypofunction 41 60
Addisons Disease 11 43
Adrenocortical Hypofunction, Chronic Primary Congenital 9
Addison Disease, Chronic Adrenal Insufficiency 9
Congenital Hypoplasia of Adrenal Gland 60
Addison's Disease Due to Autoimmunity 60
Primary Adrenocortical Insufficiency 9
 
Congenital Absence of Adrenal Gland 60
Hypoadrenocorticism, Familial 9
Hypoadrenocorticism Familial 41
Autoimmune Addisons Disease 41
Autoimmune Addison Disease 21
Classic Addison's Disease 47
Primary Addison's Disease 47
Classic Addisons Disease 41
Primary Addisons Disease 41
Classic Addison Disease 21
Primary Addison Disease 21
Primary Hypoadrenalism 9
Adrenal Hypoplasia 41
Adrenal Aplasia 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
addison disease:
Prevalence: 1-5/10000,1-5/10000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:13774
MeSH33 D000224
ICD9CM27 255.4
NCIt38 C26689
Orphanet47 85138, 95700
MESH via Orphanet34 D000224
ICD10 via Orphanet26 E27.1
UMLS via Orphanet61 C0001403, C0271737
ICD1025 E27.1

Related Diseases for Addison's Disease

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1precocious puberty30.7CYP21A2, POMC
2achalasia-addisonianism-alacrimia syndrome30.7POMC, MC2R
3hypoparathyroidism30.7CTLA4, AIRE
4cushing's syndrome30.6CYP21A2, POMC
5myasthenia gravis30.6CTLA4, AIRE
6familial glucocorticoid deficiency30.6POMC, MC2R
7achalasia30.5MC2R, POMC
8adrenoleukodystrophy30.5CYP21A2, ABCD1
9hypothyroidism30.4CTLA4, POMC, AIRE
10thymoma30.4CTLA4, AIRE
11autoimmune polyendocrine syndrome type 130.1CYP21A2, CYP11A1, AIRE
12hyperandrogenism30.0CYP11A1, CYP21A2, POMC
13adrenal adenoma29.7POMC, MC2R, CYP21A2, CYP11A1
14adenoma29.4CYP11A1, CYP21A2, MC2R, POMC, CTLA4
15hypogonadism10.7
16hypogonadotropism10.6
17hypoadrenalism10.5
18image syndrome10.5
19antley-bixler syndrome10.5CYP21A2
20glycerol kinase deficiency10.4
21adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.4
22intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies10.4
23alopecia10.4AIRE
24androgen insensitivity, partial, with or without breast cancer10.3
25acute adrenal insufficiency10.3POMC, CYP21A2
26polymyalgia rheumatica10.3
27adrenal cortical hypofunction10.3
28thyroiditis10.3CTLA4, POMC
29oligomenorrhea10.2POMC, CYP21A2
30autoimmune hepatitis10.2CTLA4, AIRE
31hyperaldosteronism10.2POMC, CYP21A2
32adrenal gland hyperfunction10.2POMC, CYP21A2
33hypopituitarism10.2CYP21A2, POMC
34autoimmune polyendocrine syndrome10.2CYP11A1, AIRE
35muscular dystrophy10.2
36isolated x-linked adrenal hypoplasia congenita10.2
37celiac disease10.2CYP21A2, CTLA4
38hyperprolactinemia10.2
39chronic fatigue syndrome10.2
40tuberculosis10.2
41x-linked adrenal hypoplasia congenita10.2
42laugier-hunziker syndrome10.2
43inherited isolated adrenal insufficiency due to cyp11a1 deficiency10.2
44congenital adrenal hypoplasia of maternal cause10.2
45polycystic ovary syndrome10.2CYP21A2, CYP11A1
46autosomal recessive disease10.2AIRE, CYP21A2, MC2R
47primary biliary cirrhosis10.1CTLA4, AIRE
48pulmonary tuberculosis10.1
49ritscher-schinzel syndrome10.1
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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HPO human phenotypes related to Addison's Disease:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 adrenal hypoplasia HP:0000835
3 adrenal insufficiency HP:0000846
4 cyanosis HP:0000961
5 abnormality of skin pigmentation HP:0001000
6 seizures HP:0001250
7 abnormality of the cardiovascular system HP:0001626
8 hypoglycemia HP:0001943
9 vomiting HP:0002013
10 apnea HP:0002104
11 hyperkalemia HP:0002153
12 hyponatremia HP:0002902
13 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:

31
Adrenal gland, Pituitary, Skin, Kidney, Testes, Thyroid, Bone, 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:

35
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 550)
idTitleAuthorsYear
1
Autoantibody response against NALP5/MATER in primary ovarian insufficiency and in autoimmune Addison's disease. (25734249)
2015
2
Hypoadrenocorticism (Addison's disease) in a Hoffmann's two-toed sloth (Choloepus hoffmanni). (25831596)
2015
3
Interleukin-2 and subunit alpha of its soluble receptor in autoimmune Addison's disease - An association study and expression analysis. (25347332)
2014
4
Continuous Subcutaneous Hydrocortisone Infusion Therapy in Addison's Disease: A Randomized, Placebo-Controlled Clinical Trial. (25127090)
2014
5
Adrenal steroidogenesis after B lymphocyte depletion therapy in new-onset Addison's disease. (22767640)
2012
6
Addison's disease masked by long-term exogenous steroid treatment for presumed polymyalgia rheumatica. (22372233)
2012
7
First presentation of Addison's disease in the 2nd trimester of pregnancy. (21534762)
2011
8
Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison's disease. (20631027)
2010
9
Addison's disease. (19574315)
2009
10
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (18946481)
2009
11
Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on bone. (19282465)
2009
12
The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. (19961590)
2009
13
Addison's disease with pituitary hyperplasia: a case report and review of the literature. (19357821)
2009
14
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. (22980466)
2008
15
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
16
Continuous subcutaneous hydrocortisone infusion in Addison's disease. (17609409)
2007
17
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
18
Akinetic mutism followed by a manic reaction on introduction of steroid replacement for Addison's disease. (16682841)
2006
19
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis. (16672758)
2006
20
Liquorice and canine Addison's disease. (16012593)
2005
21
A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. (15956353)
2005
22
Addison's disease. (15518054)
2004
23
GH-releasing peptide (GHRP-6)-induced ACTH release in patients with addison's disease: effect of glucocorticoid withdrawal. (12739742)
2003
24
Focal segmental glomerular sclerosis in two patients with Addison's disease: any more than fortuitous development of glomerular disease? (12169875)
2002
25
A critical evaluation of signs and symptoms in the diagnosis of Addison's disease. (12421050)
2002
26
Addison's disease should be diagnosed biochemically. (11464833)
2001
27
Uses of error: Addison's disease in pregnancy. (11330268)
2001
28
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
29
Oral dehydroepiandrosterone (DHEA) replacement therapy in women with Addison's disease. (10848883)
2000
30
Improvement in mood and fatigue after dehydroepiandrosterone replacement in Addison's disease in a randomized, double blind trial. (11134123)
2000
31
Diagnosis and management of Addison's disease. (11048377)
2000
32
Is the prevalence of Addison's disease underestimated? (10323417)
1999
33
Addison's disease mimicking anorexia nervosa. (9793734)
1998
34
A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease. (9486414)
1998
35
A case of non-Hodgkin's lymphoma following long-term corticosteroid therapy for Addison's disease. (9822970)
1998
36
Where you go depends on where you are. Early investigations on the use of deoxycorticosterone in Addison's disease: a historical vignette. (9589633)
1998
37
Clinical problem-solving: identifying Addison's disease. (8614435)
1996
38
Addison's disease. Hydrocortisone should be started immediately adrenal insufficiency is considered. (8761251)
1996
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 Variation 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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Search GEO for disease gene expression data for Addison's Disease.

Pathways for genes affiliated with Addison's Disease

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Pathways related to Addison's Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
9.3CYP11A1, CYP21A2
28.7CYP11A1, CYP21A2, POMC
3
Show member pathways
8.2CYP11A1, CYP27B1, CYP21A2, POMC
4
Show member pathways
8.2POMC, CYP27B1, CYP11A1, CYP21A2
5
Show member pathways
8.2POMC, CYP27B1, CYP11A1, CYP21A2
6
Show member pathways
7.9POMC, CYP21A2, CYP11A1, CYP27B1, ABCD1

Compounds for genes affiliated with Addison's Disease

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Compounds related to Addison's Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1cortrosyn439.9CYP21A2, POMC
23beta-hydroxy-delta5-steroid439.9CYP21A2, POMC
321-deoxycortisol43 2410.9CYP21A2, POMC
4nafarelin43 59 28 1212.8CYP21A2, POMC
5fludrocortisone43 28 1211.8POMC, CYP21A2
6cortisol28 2410.8POMC, CYP21A2
717-hydroxypregnenolone439.8CYP21A2, POMC
811 deoxycortisol439.8CYP21A2, POMC
9hs 014599.7POMC, MC2R
1017a-Hydroxypregnenolone249.7CYP21A2, CYP11A1
11alpha-msh59 2810.7POMC, MC2R
12[d-trp8]-gamma-msh599.7POMC, MC2R
13cortisone43 2410.7POMC, CYP21A2
14pg 106599.7POMC, MC2R
15Pregnenolone24 1210.7CYP21A2, CYP11A1
16shu 911959 4310.7MC2R, POMC
17spironolactone43 59 28 49 1213.7POMC, CYP21A2
18metyrapone43 59 1211.4POMC, MC2R, CYP21A2
19clotrimazole28 43 24 1212.3CYP27B1, CYP11A1
20hydrocortisone43 2 59 1212.3CYP21A2, MC2R, POMC
2125-hydroxyvitamin d439.2CYP27B1, CYP11A1
22doca439.1POMC, CYP21A2, CYP11A1
2317-hydroxyprogesterone43 2410.1CYP21A2, POMC, CYP11A1
24heme28 24 1211.1CYP21A2, CYP27B1, CYP11A1
25chloramphenicol43 2 49 1212.1CYP21A2, CYP11A1, CYP27B1
26corticosterone43 59 2411.0POMC, CYP21A2, CYP11A1
2717beta-hydroxysteroid439.0CYP21A2, CYP11A1
28gnrh438.9POMC, CYP11A1, CYP21A2
29nadph43 249.9CYP21A2, CYP11A1, CYP27B1
30glucose438.7CYP21A2, CYP27B1, POMC, CTLA4
31ketoconazole43 28 24 1211.7POMC, CYP21A2, CYP11A1, CYP27B1
32acth 1-24438.6CYP11A1, POMC, MC2R, CYP21A2
33aminoglutethimide43 129.6POMC, MC2R, CYP21A2, CYP11A1
3411beta-hydroxysteroid438.6MC2R, POMC, CYP21A2, CYP11A1
35estradiol43 24 1210.6CYP27B1, CYP11A1, CYP21A2, POMC
363beta-hydroxysteroid438.6POMC, MC2R, CYP11A1, CYP21A2
37dehydroepiandrosterone sulfate438.6MC2R, CYP11A1, CYP21A2, POMC
38dhea438.6POMC, CYP21A2, CYP11A1, MC2R
39androstenedione43 249.6MC2R, POMC, CYP21A2, CYP11A1
40ribonucleic acid438.6POMC, CYP11A1, MC2R, CYP21A2
41cycloheximide438.5POMC, CYP11A1, CYP27B1, CYP21A2
42lipid438.4CYP21A2, ABCD1, CYP27B1, CYP11A1, CTLA4
43estrogen438.2CTLA4, POMC, CYP21A2, CYP27B1, CYP11A1
44dexamethasone43 49 28 1211.2CTLA4, CYP11A1, CYP21A2, POMC, MC2R
45testosterone43 59 24 1211.1CYP27B1, POMC, MC2R, CYP21A2, CYP11A1
46acth438.1MC2R, POMC, CYP21A2, CYP11A1, MRAP
47cholesterol43 28 24 1211.0CYP21A2, CYP11A1, CYP27B1, ABCD1, CTLA4, MC2R
48forskolin43 49 129.8ABCD1, POMC, MC2R, CYP21A2, CYP27B1, CYP11A1
49calcium43 49 24 1210.8CYP27B1, MC2R, CTLA4, CYP21A2, CYP11A1
50steroid437.7CYP21A2, CTLA4, CYP27B1, CYP11A1, MC2R, POMC

GO Terms for genes affiliated with Addison's Disease

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Cellular components related to Addison's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:00057779.5POMC, ABCD1

Biological processes related to Addison's Disease according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cAMP biosynthetic processGO:00308199.3MC2R, MRAP
2neuropeptide signaling pathwayGO:00072189.3POMC, MC2R
3vitamin D metabolic processGO:00423599.3CYP11A1, CYP27B1
4sterol metabolic processGO:00161259.3CYP11A1, CYP21A2
5steroid metabolic processGO:00082029.0CYP21A2, CYP11A1, CYP27B1
6xenobiotic metabolic processGO:00068058.9CYP21A2, CYP11A1, CYP27B1
7small molecule metabolic processGO:00442818.2CYP21A2, CYP11A1, CYP27B1, ABCD1

Molecular functions related to Addison's Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1type 1 melanocortin receptor bindingGO:00709969.4POMC, MRAP
2type 3 melanocortin receptor bindingGO:00317819.3POMC, MRAP
3type 4 melanocortin receptor bindingGO:00317829.2POMC, MRAP
4iron ion bindingGO:00055068.9CYP21A2, CYP11A1, CYP27B1
5heme bindingGO:00200378.6CYP27B1, CYP11A1, CYP21A2

Products for genes affiliated with Addison's Disease

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Sources for Addison's Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet