Pathology
germline mutations in the PRKAR1A gene coding for the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A
- Carney complex type 1
- primary pigmented nodular adrenocortical disease (PPNAD) (MIM.160980) (12424709)
- familial cardiac myxomas (MIM.255960)
somatic mutations in the PRKAR1A gene in
- sporadic adrenocortical tumor (14500362)
References
Bossis I, Stratakis CA. PRKAR1A: Normal and abnormal functions. Endocrinology. 2004 Aug 26 PMID: 15331577