| H00260 | |
| H number | H00260 |
| Name | Pigmented micronodular adrenocortical disease |
| 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 |
| Network | nt06310(H00260) CRH-ACTH-cortisol signaling |
| Gene | (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] (PPNAD2) PDE11A [HSA:50940] [KO:K13298] (PPNAD3) PDE8B [HSA:8622] [KO:K18437] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A70.Y ICD-10: E27.5 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 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 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 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 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 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 |