Pigmented nodular adrenocortical disease, primary, 1- MedGen UID:
- 400627
- •Concept ID:
- C1864846
- •
- Disease or Syndrome
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002).
Genetic Heterogeneity of Primary Pigmented Nodular Adrenocortical Disease
See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).
ACTH-independent macronodular adrenal hyperplasia 2- MedGen UID:
- 863240
- •Concept ID:
- C4014803
- •
- Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).