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GTR Home > Conditions/Phenotypes > Pigmented nodular adrenocortical disease, primary, 1

Pigmented nodular adrenocortical disease, primary, 1

Synonyms
ADRENOCORTICAL NODULAR DYSPLASIA, PRIMARY; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1; PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1

Summary

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). [from OMIM]

Available tests

41 tests are in the database for this condition.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, Prkar1alpha, TSE1, PRKAR1A
    Summary: protein kinase cAMP-dependent type I regulatory subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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