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HGNC:8773 MIM.604961 2q31.2

Wednesday 28 February 2007


- germline mutations in primary pigmented nodular adrenocortical disease-2 (PPNAD2) (adrenal Cushing syndrome) (MIM.610475)

- PDE11A sequence defects predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia) and may contribute to the development of tumors in the general population. (18559625)

- The genetic variations all impair the enzyme phosphodiesterase 11A (PDE11A). Genetic variations that inactivate PDE11A are linked tp increased susceptibility to testicular cancer, adrenal tumors and prostate cancer (prostatic adenocarcinoma).

See also

- primary pigmented nodular adrenocortical disease-1 (PPNAD1 (MIM.610489)

  • mutation in the PRKAR1A gene (MIM.188830) on chromosome 17q
  • mutation in the GNAS gene
  • often associated with Carney complex (CNC1) (MIM.160980).


- Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. LibĂ© R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J. Clin Cancer Res. 2008 Jun 15;14(12):4016-24. PMID: 18559625

- 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. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006 Jul;38(7):794-800. PMID: 16767104