MCID: ADD001
MIFTS: 62

Addison's Disease

Categories: Rare diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Addison's Disease

MalaCards integrated aliases for Addison's Disease:

Name: Addison's Disease 12 50 14
Addison Disease 12 50 56 41 42 69
Adrenal Gland Hypofunction 50 69
Adrenal Hypoplasia 50 29
Addison Disease, Chronic Adrenal Insufficiency 12
Autoimmune Primary Adrenal Insufficiency 69
Addison's Disease Due to Autoimmunity 69
Primary Adrenocortical Insufficiency 12
Hypoadrenocorticism, Familial 12
Hypoadrenocorticism Familial 50
Autoimmune Addison's Disease 56
Classic Addison's Disease 56
Primary Addison's Disease 56
Primary Hypoadrenalism 12
Autoimmune Adrenalitis 56
Addisons Disease 52
Adrenal Aplasia 50

Characteristics:

Orphanet epidemiological data:

56
addison disease
Prevalence: 1-5/10000,1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

32
addison's disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Addison's Disease

MedlinePlus : 41 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 lymphoma and autoimmune addison disease, and has symptoms including failure to thrive, diarrhea and seizures. An important gene associated with Addison's Disease is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are Insulin secretion and G alpha (s) signalling events. The drugs Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, skin and testes, and related phenotypes are Increased transferrin (TF) endocytosis and endocrine/exocrine gland

Disease Ontology : 12 An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.

NIH Rare Diseases : 50 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

Related Diseases for Addison's Disease

Diseases in the Addison's Disease family:

Autoimmune Addison Disease

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

(show top 50) (show all 105)
id Related Disease Score Top Affiliating Genes
1 lymphoma 29.2 AIRE CTLA4 TPO
2 autoimmune addison disease 12.2
3 adrenoleukodystrophy 11.7
4 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 11.6
5 autoimmune polyendocrine syndrome, type ii 11.4
6 achalasia-addisonianism-alacrimia syndrome 11.0
7 adrenal hypoplasia, congenital 10.8
8 ritscher-schinzel syndrome 1 10.8
9 autoimmune polyendocrine syndrome type 1 10.7
10 anterior segment dysgenesis 1, multiple subtypes 10.7 AIRE CTLA4
11 spinocerebellar ataxia 28 10.7 MC2R POMC
12 cleft lip and palate malrotation cardiopathy 10.7 CYP21A2 POMC
13 branchiootorenal/branchiootic syndrome 10.6 CYP21A2 REN
14 hypodontia of incisors and premolars 10.6 POMC REN
15 persistent mullerian duct syndrome, type ii 10.6 MC2R POMC
16 carotid artery thrombosis 10.6 POMC REN
17 cholangiolocellular carcinoma 10.6 POMC REN
18 antigen-peptide-transporter 2 deficiency 10.5 CTLA4 PTPN22
19 atrichia with papular lesions 10.5 AIRE CYP21A2
20 intermittent squint 10.4 CRH POMC
21 benign peritoneal mesothelioma 10.4 CYP21A2 MC2R POMC
22 hypoaldosteronism, congenital, due to cmo ii deficiency 10.4 POMC REN
23 renal pelvis carcinoma 10.4 CRH POMC
24 ocular hypotension 10.4 CYP21A2 STAR
25 actinobacillosis 10.4 CRH POMC
26 ulcerative blepharitis 10.4 CRH POMC
27 hypodermyasis 10.4 CRH POMC
28 repetitive stress injuries 10.4 DDC REN
29 febrile infection-related epilepsy syndrome 10.3 CRH POMC
30 gastrojejunal ulcer 10.3 CYP17A1 CYP21A2
31 acute myocarditis 10.2 CRH CYP21A2 POMC
32 coloboma 10.2 CRH MC2R POMC
33 adrenal cortex disease 10.2 CRH CYP21A2 POMC
34 autoimmune disease of central nervous system 10.2 CRH POMC
35 uterine corpus adenocarcinofibroma 10.2 CRH POMC REN
36 cardiovascular organ benign neoplasm 10.2 CRH POMC REN
37 vestibular gland benign neoplasm 10.2 CRH POMC REN
38 hypertensive encephalopathy 10.2 CRH POMC REN
39 intestinal disaccharidase deficiency 10.1 AIRE CTLA4 MC2R PTPN22
40 early-onset parkinson disease 10.1 CRH POMC
41 clopidogrel resistance 10.1 AIRE CTLA4 CYP21A2 PTPN22
42 calcinosis 10.1 CRH POMC REN
43 familial glucocorticoid deficiency 10.1
44 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 10.1
45 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 10.1
46 congenital adrenal hypoplasia of maternal cause 10.1
47 cytomegalic congenital adrenal hypoplasia 10.1
48 dfna2 nonsyndromic hearing loss 10.1 CYP17A1 CYP21A2 POMC
49 traumatic glaucoma 10.1 CRH POMC
50 sphingolipidosis 10.1 CYP17A1 CYP21A2 POMC

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



Diseases related to Addison's Disease

Symptoms & Phenotypes for Addison's Disease

Human phenotypes related to Addison's Disease:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 diarrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002014
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 adrenal hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000835
5 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
6 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
7 hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001943
8 renal salt wasting 56 32 frequent (33%) Frequent (79-30%) HP:0000127
9 hyponatremia 56 32 frequent (33%) Frequent (79-30%) HP:0002902
10 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
11 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
12 hyperuricemia 56 32 frequent (33%) Frequent (79-30%) HP:0002149
13 dry skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000958
14 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
15 hypercalcemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003072
16 hyperkalemia 56 32 frequent (33%) Frequent (79-30%) HP:0002153
17 vertigo 56 32 occasional (7.5%) Occasional (29-5%) HP:0002321
18 weight loss 56 32 hallmark (90%) Very frequent (99-80%) HP:0001824
19 hashimoto thyroiditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000872
20 arthralgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002829
21 sparse axillary hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0002215
22 orthostatic hypotension 56 32 occasional (7.5%) Occasional (29-5%) HP:0001278
23 hypoparathyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000829
24 anorexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002039
25 vitiligo 56 32 occasional (7.5%) Occasional (29-5%) HP:0001045
26 normocytic anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001897
27 hyperkalemic metabolic acidosis 56 32 frequent (33%) Frequent (79-30%) HP:0005976
28 adrenal calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0010512
29 celiac disease 56 32 occasional (7.5%) Occasional (29-5%) HP:0002608
30 salt craving 56 32 occasional (7.5%) Occasional (29-5%) HP:0030083
31 nausea and vomiting 56 32 hallmark (90%) Very frequent (99-80%) HP:0002017
32 thymoma 56 32 very rare (1%) Very rare (<4-1%) HP:0100522
33 primary testicular failure 56 32 very rare (1%) Very rare (<4-1%) HP:0008720
34 type i diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0100651
35 increased circulating renin level 56 32 frequent (33%) Frequent (79-30%) HP:0000848
36 increased circulating acth level 56 32 hallmark (90%) Very frequent (99-80%) HP:0003154
37 hyperpigmentation of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000953
38 generalized bone demineralization 56 32 occasional (7.5%) Occasional (29-5%) HP:0006462
39 decreased urinary potassium 56 32 frequent (33%) Frequent (79-30%) HP:0012364
40 decreased female libido 56 32 occasional (7.5%) Occasional (29-5%) HP:0030018
41 androgen insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0008226
42 thiamine-responsive megaloblastic anemia 56 32 very rare (1%) Very rare (<4-1%) HP:0004860
43 vomiting 32 HP:0002013
44 apnea 32 HP:0002104
45 feeding difficulties in infancy 32 HP:0008872
46 premature ovarian failure 56 Occasional (29-5%)
47 cyanosis 32 HP:0000961
48 primary ovarian failure 56 Occasional (29-5%)
49 hypotension 56 Very frequent (99-80%)
50 hypocortisolemia 56 Obligate (100%)

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.32 CRH CTLA4 CYP11A1 CYP21A2 MC2R POMC

MGI Mouse Phenotypes related to Addison's Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.13 ABCD1 AIRE CRH CTLA4 CYP11A1 MC2R
2 homeostasis/metabolism MP:0005376 10.13 ABCD1 AIRE CRH CTLA4 CYP11A1 CYP17A1
3 behavior/neurological MP:0005386 10.11 CYP17A1 DDC MC2R POMC REN ABCD1
4 growth/size/body region MP:0005378 10.1 REN STAR TPO AIRE CRH CYP11A1
5 hematopoietic system MP:0005397 10.07 ABCD1 AIRE CRH CTLA4 CYP11A1 MC2R
6 immune system MP:0005387 10 ABCD1 AIRE CRH CTLA4 CYP11A1 DDC
7 mortality/aging MP:0010768 9.7 CYP11A1 CYP17A1 DDC MC2R POMC PTPN22
8 liver/biliary system MP:0005370 9.63 AIRE CRH CTLA4 CYP11A1 POMC PTPN22
9 renal/urinary system MP:0005367 9.02 CRH DDC POMC PTPN22 REN

Drugs & Therapeutics for Addison's Disease

Drugs for Addison's Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
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
Cortisone acetate Approved Phase 4 1950-04-4, 50-04-4 5745
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Menthol Approved Phase 4 2216-51-5 16666
8
Prednisone Approved, Vet_approved Phase 4,Phase 2 53-03-2 5865
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11
rituximab Approved Phase 4 174722-31-7 10201696
12
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
13 tannic acid Approved, Nutraceutical Phase 4
14
Butyric Acid Experimental Phase 4,Phase 2,Phase 3,Phase 1 107-92-6 264
15 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1
16 Cortisol succinate Phase 4,Phase 2,Phase 3,Phase 1
17 Epinephryl borate Phase 4,Phase 3,Phase 2,Phase 1
18 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1
19 Hydrocortisone acetate Phase 4,Phase 2,Phase 3,Phase 1
20 Hydrocortisone-17-butyrate Phase 4,Phase 2,Phase 3,Phase 1
21 Hormone Antagonists Phase 4,Phase 2,Phase 3
22 Hormones Phase 4,Phase 2,Phase 3
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
24
Cortisone Phase 4 53-06-5 222786
25 glucocorticoids Phase 4,Phase 2,Phase 3
26 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1
28 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1
29 Adrenergic beta-Agonists Phase 4,Phase 2,Phase 3,Phase 1
30 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Antiemetics Phase 4
32 Antineoplastic Agents, Hormonal Phase 4,Phase 2
33 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
34 BB 1101 Phase 4
35 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Dexamethasone acetate Phase 4 1177-87-3
37 Gastrointestinal Agents Phase 4
38 HIV Protease Inhibitors Phase 4
39 Mydriatics Phase 4,Phase 2,Phase 3,Phase 1
40 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
41 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
42
protease inhibitors Phase 4
43 Respiratory System Agents Phase 4,Phase 2,Phase 3,Phase 1
44 Vasoconstrictor Agents Phase 4,Phase 2,Phase 3,Phase 1
45 Antirheumatic Agents Phase 4,Phase 2
46 Methylprednisolone acetate Phase 4
47 Methylprednisolone Hemisuccinate Phase 4
48 Prednisolone acetate Phase 4
49 Prednisolone hemisuccinate Phase 4
50 Prednisolone phosphate Phase 4

Interventional clinical trials:

(show all 28)

id Name Status NCT ID Phase Drugs
1 Revival of Stem Cells in Addison's Study Completed NCT01371526 Phase 4 depot tetracosactide
2 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
3 Test Predicting Adrenal Insufficiency in Volunteers Under Prednisone Treatment Completed NCT00975078 Phase 4 prednisone
4 Rescue of Steroidogenic Capacity in Adrenocortical Failure Study (RADS) Completed NCT00753597 Phase 4 Solu-medrone, Mabthera
5 Taper Or Abrupt Steroid Stop: TOASSTtrial Recruiting NCT03153527 Phase 4 Prednisone
6 A Study of Markers of Glucocorticoid Effects in Patients With Addisons Disease (DOSCORT) Not yet recruiting NCT03210545 Phase 4 Dexamethasone
7 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3 Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
8 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
9 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
10 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
11 Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Failure Unknown status NCT01847690 Phase 2 Hydrocortisone
12 Continuous Subcutaneous Hydrocortisone Infusion In Addison`s Disease and Type 1 Diabetes Completed NCT01840189 Phase 2
13 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
14 Vaginal Prednisone Administration for Prevention of Adrenal Crisis Completed NCT02689960 Phase 2 100mg prednisone suppository
15 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Recruiting NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
16 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Recruiting NCT03123016 Phase 2 Apremilast
17 Exercise Capacity and Recovery in Addison's Disease Unknown status NCT01657123
18 Effects and Interactions of Liquorice and Grapefruit on Glucocorticoid Replacement Therapy in Addison's Disease Completed NCT01271296
19 Biomarker(s) for Glucocorticoids Completed NCT02152553 Hydrocortisone;Placebo
20 Counterregulatory Hormone Production in Adrenal Insufficiency and Diabetes Type I Completed NCT01452893
21 Adrenal Function After Living Kidney Donation Completed NCT00251836
22 The Hypothalamic-Pituitary-Adrenal (HPA) Axis as an Effector System in Weight Regulation Completed NCT00688987 Hydrocortisone
23 Survey in Patients With Chronic Adrenal Insufficiency in Germany Completed NCT00444119
24 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)
25 Adrenal Function in Critical Illness Completed NCT00156767
26 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Circadian Function and Cardio-metabolic Risk in Adrenal Insufficiency Recruiting NCT03000231
28 Gene Polymorphisms Influencing Steroid Synthesis and Action Withdrawn NCT00485186

Search NIH Clinical Center for Addison's Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: addison disease

Genetic Tests for Addison's Disease

Genetic tests related to Addison's Disease:

id Genetic test Affiliating Genes
1 Adrenal Hypoplasia 29

Anatomical Context for Addison's Disease

MalaCards organs/tissues related to Addison's Disease:

39
Adrenal Gland, Skin, Testes, Kidney, Thyroid, Bone, Pituitary

Publications for Addison's Disease

Articles related to Addison's Disease:

(show top 50) (show all 622)
id Title Authors Year
1
Addison's Disease Caused by Tuberculosis with Atypical Hyperpigmentation and Active Pulmonary Tuberculosis. ( 28717080 )
2017
2
'Golden rules' for treating Addison's disease. ( 28082707 )
2017
3
Addison's Disease Mimicking as Acute Pancreatitis: A Case Report. ( 28571196 )
2017
4
Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy. ( 28758924 )
2017
5
Addison's Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female. ( 28348901 )
2017
6
MANAGEMENT OF ENDOCRINE DISEASE: Regenerative therapies in autoimmune Addison's disease. ( 27810905 )
2017
7
Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report. ( 28658350 )
2017
8
A Complex Interplay: Cognitive Behavioural Therapy for Severe Health Anxiety in Addison's Disease to Reduce Emergency Department Admissions. ( 28390450 )
2017
9
Impaired quality and efficiency of sleep impairs cognitive functioning in Addison's disease. ( 28235729 )
2017
10
Addison's Disease: A Diagnostic Dilemma. ( 28919626 )
2017
11
Vitamin D effects on monocytes' CCL-2, IL6 and CD14 transcription in Addison's disease and HLA susceptibility. ( 28765037 )
2017
12
Visceral Fat and Novel Biomarkers of Cardiovascular Disease in Patients with Addison's Disease; a case-control study. ( 28945861 )
2017
13
No Difference in Mood and Quality of Life in DHEA-S Deficient Adults with Addison's Disease vs. Type 2 Diabetes Patients with Normal DHEA-S Levels: Implications for Management of These Conditions. ( 28553251 )
2017
14
Vertebral fractures assessed with dual-energy X-ray absorptiometry in patients with Addison's disease on glucocorticoid and mineralocorticoid replacement therapy. ( 28795340 )
2017
15
Addison's disease concomitant with corticotropin deficiency and pituitary CRH resistance - a case report. ( 28819949 )
2017
16
Mortality in patients with diabetes mellitus and Addison's disease: a nationwide, matched, observational cohort study. ( 27928991 )
2017
17
Natural history of autoimmune primary ovarian insufficiency in patients with Addison's disease: from normal ovarian function to overt ovarian dysfunction. ( 28733292 )
2017
18
Addison's Disease and Dilated Cardiomyopathy: A Case Report and Review of the Literature. ( 28003914 )
2016
19
MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes. ( 27652379 )
2016
20
Addison's disease as a presentation of metastatic malignant melanoma. ( 26688417 )
2016
21
Sarcoidosis Presenting Addison's Disease. ( 27150885 )
2016
22
A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease. ( 28197008 )
2016
23
A rare case of Addison's disease due to bilateral adrenal histoplasmosis presenting with hypoglycaemia. ( 27727656 )
2016
24
Impact of month-of-birth on the risk of development of autoimmune Addison's disease. ( 27575942 )
2016
25
First presentation of Addison's disease as hyperkalaemia in acute kidney injury. ( 27170604 )
2016
26
From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. ( 27211204 )
2016
27
Polymorphisms of the GR and HSD11B1genes influence body mass index and weight gain during hormone replacement treatment in patients with Addison's disease. ( 26800219 )
2016
28
A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans. ( 27680876 )
2016
29
Maternal and neonatal outcomes of pregnancies in women with Addison's disease: a population-based cohort study on 7.7 million births. ( 27981742 )
2016
30
Treatment of Addison's disease in dogs. ( 27103698 )
2016
31
GPs face charges of manslaughter over boy's death from Addison's disease. ( 27153856 )
2016
32
Erratum: First presentation of Addison's disease as hyperkalaemia in acute kidney injury. ( 27277582 )
2016
33
Polymorphic variants of the HSD11B1 gene may be involved in adverse metabolic effects of glucocorticoid replacement therapy in Addison's disease. ( 27083553 )
2016
34
Supporting the treatment of Addison's disease in dogs. ( 27837079 )
2016
35
How best to treat Addison's disease in dogs? ( 27450847 )
2016
36
Analysis of cellular and humoral immune responses against cytomegalovirus in patients with autoimmune Addison's disease. ( 26956521 )
2016
37
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease. ( 27807919 )
2016
38
Clinical and immunological characteristics of Autoimmune Addison's disease: a nationwide Swedish multicenter study. ( 27870550 )
2016
39
Positive autoantibodies to ZnT8 indicate elevated risk for additional autoimmune conditions in patients with Addison's disease. ( 26972575 )
2016
40
Decreased physical activity, reduced QoL and presence of debilitating fatigue in patients with Addison's disease. ( 26953557 )
2016
41
Takotsubo-like syndrome triggered by fludrocortisone overdose for Addison's disease: a case report. ( 27729057 )
2016
42
A rare case of Addison's disease, hepatitis, thyreoiditis, positive IgG anti-tissue transglutaminase antibodies and partial IgA deficiency. ( 27536208 )
2016
43
Addison's disease with polyglandular autoimmunity carries a more than 2.5-fold risk for adrenal crises: German Health insurance data 2010-2013. ( 26896640 )
2016
44
Insights into Addison's disease in dogs. ( 27932737 )
2016
45
Effect of steroid replacement on thyroid function and thyroid autoimmunity in Addison's disease with primary hypothyroidism. ( 27042409 )
2016
46
Management of Addison's disease in dogs. ( 27154940 )
2016
47
Salivary Cortisol and Cortisone do not Appear to be Useful Biomarkers for Monitoring Hydrocortisone Replacement in Addison's Disease. ( 27813051 )
2016
48
CTLA-4 as a genetic determinant in autoimmune Addison's disease. ( 26204230 )
2015
49
Poor quality of life, depressed mood, and memory impairment may be mediated by sleep disruption in patients with Addison's disease. ( 26256520 )
2015
50
The acute effect of a mineralocorticoid receptor agonist on corticotrope secretion in Addison's disease. ( 26450146 )
2015

Variations for Addison's Disease

ClinVar genetic disease variations for Addison's Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ABCD1 NM_000033.3(ABCD1): c.1817C> T (p.Ser606Leu) single nucleotide variant Pathogenic rs128624225 GRCh37 Chromosome X, 153008477: 153008477
2 ABCD1 ABCD1, 1-BP DEL, 2204G deletion Pathogenic

Copy number variations for Addison's Disease from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17293 1 142400000 148000000 Deletion FCGR1C Addison''s disease

Expression for Addison's Disease

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

Pathways for Addison's Disease

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 CYP11A1 CYP21A2 MC2R STAR TPO
2 11.8 CRH MC2R POMC
3
Show member pathways
11.56 CYP11A1 MC2R POMC
4 11.32 CRH CYP11A1 CYP21A2 POMC STAR
5
Show member pathways
11.3 CYP11A1 CYP17A1 CYP21A2
6 11.13 CYP11A1 CYP17A1 STAR
7
Show member pathways
10.97 CYP11A1 CYP17A1 CYP21A2 POMC STAR
8
Show member pathways
10.76 CYP17A1 CYP21A2
9 10.21 CRH POMC

GO Terms for Addison's Disease

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

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.92 CRH CYP17A1 DDC STAR

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.56 CRH CYP11A1 CYP17A1 CYP21A2
2 cellular response to dexamethasone stimulus GO:0071549 9.49 CRH STAR
3 response to immobilization stress GO:0035902 9.48 CRH REN
4 response to corticosterone GO:0051412 9.46 CRH STAR
5 hormone biosynthetic process GO:0042446 9.43 CYP17A1 TPO
6 C21-steroid hormone biosynthetic process GO:0006700 9.4 CYP11A1 STAR
7 cellular response to alkaloid GO:0071312 9.37 DDC STAR
8 sterol metabolic process GO:0016125 9.33 CYP11A1 CYP17A1 CYP21A2
9 diterpenoid metabolic process GO:0016101 9.32 CRH STAR
10 steroid biosynthetic process GO:0006694 9.26 CYP11A1 CYP17A1 CYP21A2 STAR
11 glucocorticoid biosynthetic process GO:0006704 8.8 CRH CYP17A1 CYP21A2

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.33 CYP11A1 CYP17A1 CYP21A2
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.13 CYP11A1 CYP17A1 CYP21A2
3 neuropeptide hormone activity GO:0005184 8.96 CRH
4 heme binding GO:0020037 8.92 CYP11A1 CYP17A1 CYP21A2 TPO

Sources for Addison's 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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