Hereditary Pigmentary Disorders
Gene: PRKAR1A
Profuse pigmented skin lesions are a feature of the condition.
Sources: Expert listCreated: 30 May 2025, 5:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Carney complex, type 1 MONDO:0008057
Publications
Variants in this GENE are reported as part of current diagnostic practice
Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. Multiple families reported, some with isolated cardiac or endocrine findings. All of these disorders likely represent a continuum.Created: 18 Apr 2022, 9:06 a.m. | Last Modified: 18 Apr 2022, 9:06 a.m.
Panel Version: 0.13004
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acrodysostosis 1, with or without hormone resistance, MIM# 101800; Carney complex, type 1, MIM# 160980; Myxoma, intracardiac, MIM# 255960; Pigmented nodular adrenocortical disease, primary, 1, MIM# 610489
Publications
Gene: prkar1a has been classified as Green List (High Evidence).
Gene: prkar1a has been classified as Green List (High Evidence).
gene: PRKAR1A was added gene: PRKAR1A was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAR1A were set to 10973256; 11115848; 12424709; 21651393 Phenotypes for gene: PRKAR1A were set to Carney complex, type 1 MONDO:0008057 Review for gene: PRKAR1A was set to GREEN gene: PRKAR1A was marked as current diagnostic