Synopsis
adrenal glands
Cushing syndrome
germline inactivating mutations of the gene PDE11A4 that encodes phosphodiesterase11A4 (20351491)
possible primary pigmented nodular adrenocortical disease (20351491)
- also known to be caused by inactivating mutations of the PRKAR1A gene
- numerous pigmented micronodules developed
Etiology
inactivating mutations in the 2q-located phosphodiesterase 11A (PDE11A) gene (20351491)
- The gene is expressed in the adrenal cortex and catalyses the hydrolysis of cyclic adenosine monophosphate and cyclic guanosine monophosphate.
Associations
adrenal adenomatoid tumor (14506647)
See also
adrenocortical macronodular hyperplasia
adrenocortical tumors
Cushing syndrome
aberrant cyclic AMP signaling (cAMP signaling pathway)
adrenocortical hyperplasia
References
Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). Carney JA, Gaillard RC, Bertherat J, Stratakis CA. Am J Surg Pathol. 2010 Apr;34(4):547-55. PMID: 20351491
Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res. 2006 Dec 15;66(24):11571-5. PMID: 17178847
Chung-Park M, Yang JT, McHenry CR, Khiyami A. Related Articles, Links Adenomatoid tumor of the adrenal gland with micronodular adrenal cortical hyperplasia. Hum Pathol. 2003 Aug;34(8):818-21. PMID: 14506647
Aiba M, Hirayama A, Iri H, Kodama T, Fujimoto Y, Kusakabe K, Akama H, Murai M, Tazaki H. Primary adrenocortical micronodular dysplasia: enzyme histochemical and ultrastructural studies of two cases with a review of the literature. Hum Pathol. 1990 May;21(5):503-11. PMID: 2186994
Danoff A, Jormark S, Lorber D, Fleischer N. Adrenocortical micronodular dysplasia, cardiac myxomas, lentigines, and spindle cell tumors. Report of a kindred. Arch Intern Med. 1987 Mar;147(3):443-8. PMID: 3827421