KEGG   DISEASE: Addison disease
Entry
H01598                      Disease                                

Name
Addison disease;
Primary adrenal insufficiency;
Hypoadrenocorticism
  Supergrp
Chromosome Xp21 deletion syndrome [DS:H00552]
Description
Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adorenal cortex, resulting in insufficient production of glucocorticoids, mineralocorticoids, and adrenal androgens. Although tuberculosis remains a significant cause in developing countries, autoimmune adrenalitis is the most common cause of Addison disease in developed nations. It has also been reported that DAX1 mutations result in X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Symptoms are gradual and worsen over a period of years, making early diagnosis difficult. Treatment for Addison disease consists of lifelong hormone therapy with glucocorticoids and mineralocorticoids.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01598  Addison disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A74  Adrenocortical insufficiency
     H01598  Addison disease
Gene
NR0B1 [HSA:190] [KO:K08562]
Drug
Triamcinolone acetonide [DR:D00983]
Dexamethasone sodium phosphate [DR:D00975]
Hydrocortisone [DR:D00088]
Prednisolone sodium phosphate [DR:D00981]
Prednisone [DR:D00473]
Fludrocortisone acetate [DR:D00986]
Other DBs
ICD-11: 5A74.0
ICD-10: E27.1
MeSH: D000224
OMIM: 240200 300200
Reference
  Authors
Napier C, Pearce SH
  Title
Current and emerging therapies for Addison's disease.
  Journal
Curr Opin Endocrinol Diabetes Obes 21:147-53 (2014)
DOI:10.1097/MED.0000000000000067
Reference
PMID:24695602 (drug, marker)
  Authors
Michels A, Michels N
  Title
Addison disease: early detection and treatment principles.
  Journal
Am Fam Physician 89:563-8 (2014)
Reference
PMID:9529340
  Authors
Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER
  Title
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
  Journal
Am J Hum Genet 62:855-64 (1998)
DOI:10.1086/301782
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