KEGG   DISEASE: Bilateral macronodular adrenal hyperplasia
Entry
H02049                      Disease                                

Name
Bilateral macronodular adrenal hyperplasia
  Supergrp
Cushing syndrome [DS:H01431]
Description
Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal cause of Cushing's syndrome (CS). An increased activity of the cAMP/PKA pathway is found in the various forms of BMAH. Actors of the cAMP/PKA signaling pathway or genes causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, a new gene, ARMC5, was identified as a frequent cause of sporadic or familial BMAH.
Category
Endocrine and metabolic diseases
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H02049  Bilateral macronodular adrenal hyperplasia
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
    5A70  Cushing syndrome
     H02049  Bilateral macronodular adrenal hyperplasia
Pathway
hsa04934  Cushing syndrome
Network
nt06310  CRH-ACTH-cortisol signaling
  Element
N00320  Mutation-activated PRKACA to ACTH-cortisol signaling pathway
N00321  Mutation-activated GNAS to ACTH-cortisol signaling pathway
N00323  Mutation-inactivated PDE11A/PDE8B to ACTH-cortisol signaling pathway
Gene
ARMC5 [HSA:79798] [KO:K22499]
MEN1 [HSA:4221] [KO:K14970]
FH [HSA:2271] [KO:K01679]
PDE11A [HSA:50940] [KO:K13298]
GNAS1 [HSA:2778] [KO:K04632]
APC [HSA:324] [KO:K02085]
MC2R [HSA:4158] [KO:K04200]
PRKACA [HSA:5566] [KO:K04345]
Other DBs
ICD-11: 5A70.Y
ICD-10: E27.8
MeSH: C565662
OMIM: 219080 615954
Reference
  Authors
De Venanzi A, Alencar GA, Bourdeau I, Fragoso MC, Lacroix A
  Title
Primary bilateral macronodular adrenal hyperplasia.
  Journal
Curr Opin Endocrinol Diabetes Obes 21:177-84 (2014)
DOI:10.1097/MED.0000000000000061
Reference
  Authors
Espiard S, Drougat L, Libe R, Assie G, Perlemoine K, Guignat L, Barrande G, Brucker-Davis F, Doullay F, Lopez S, Sonnet E, Torremocha F, Pinsard D, Chabbert-Buffet N, Raffin-Sanson ML, Groussin L, Borson-Chazot F, Coste J, Bertagna X, Stratakis CA, Beuschlein F, Ragazzon B, Bertherat J
  Title
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
  Journal
J Clin Endocrinol Metab 100:E926-35 (2015)
DOI:10.1210/jc.2014-4204
Reference
  Authors
Lacroix A
  Title
Heredity and cortisol regulation in bilateral macronodular adrenal hyperplasia.
  Journal
N Engl J Med 369:2147-9 (2013)
DOI:10.1056/NEJMe1312792
Reference
  Authors
Faillot S, Assie G
  Title
ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.
  Journal
Eur J Endocrinol 174:R249-65 (2016)
DOI:10.1530/EJE-15-1118
Reference
  Authors
Drougat L, Espiard S, Bertherat J
  Title
Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?
  Journal
Eur J Endocrinol 173:M121-31 (2015)
DOI:10.1530/EJE-15-0532

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