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1.

Pigmented nodular adrenocortical disease, primary, 1

Primary pigmented micronodular adrenocortical disease 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 Micronodular 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). [from OMIM]

MedGen UID:
400627
Concept ID:
C1864846
Disease or Syndrome
2.

Pigmented nodular adrenocortical disease, primary, 2

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. [from MONDO]

MedGen UID:
355843
Concept ID:
C1864851
Disease or Syndrome
3.

Pigmented micronodular adrenocortical disease

MedGen UID:
368901
Concept ID:
C1968851
Finding
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