KEGG DISEASE: Pigmented micronodular adrenocortical disease

DISEASE: Pigmented micronodular adrenocortical disease

Entry

H00260                      Disease

Name

Pigmented micronodular adrenocortical disease

Supergrp

Cushing syndrome [DS:H01431]

Description

Primary pigmented micronodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in endogenous Cushing's syndrome.

Category

Endocrine and metabolic disease

Brite

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
     H00260  Pigmented micronodular adrenocortical disease
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06310  CRH-ACTH-cortisol signaling
   H00260  Pigmented micronodular adrenocortical disease

Network

nt06310 CRH-ACTH-cortisol signaling

Gene

(PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
(PPNAD2) PDE11A [HSA:50940] [KO:K13298]
(PPNAD3) PDE8B [HSA:8622] [KO:K18437]

Other DBs

ICD-11:

5A70.Y

MeSH:

C566469 C566472

OMIM:

610489 610475 614190

Reference

PMID:18549891

Authors

Powell AC, Stratakis CA, Patronas NJ, Steinberg SM, Batista D, Alexander HR, Pingpank JF, Keil M, Bartlett DL, Libutti SK

Title

Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia.

Journal

Surgery 143:750-8 (2008)
DOI:10.1016/j.surg.2008.03.022

Reference

PMID:18493137

Authors

Stratakis CA

Title

Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin- independent Cushing syndrome).

Journal

Endocr Dev 13:117-32 (2008)
DOI:10.1159/000134829

Reference

PMID:12119280

Authors

Bourdeau I, Stratakis CA

Title

Cyclic AMP-dependent signaling aberrations in macronodular adrenal disease.

Journal

Ann N Y Acad Sci 968:240-55 (2002)
DOI:10.1111/j.1749-6632.2002.tb04339.x

Reference

PMID:12213893 (PPNAD1)

Authors

Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J

Title

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

Journal

J Clin Endocrinol Metab 87:4324-9 (2002)
DOI:10.1210/jc.2002-020592

Reference

PMID:16767104 (PPNAD2)

Authors

Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA

Title

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Journal

Nat Genet 38:794-800 (2006)
DOI:10.1038/ng1809

Reference

PMID:18272904 (PPNAD3)

Authors

Horvath A, Mericq V, Stratakis CA

Title

Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.

Journal

N Engl J Med 358:750-2 (2008)
DOI:10.1056/NEJMc0706182

LinkDB

» Japanese version

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