This website provides information on patients with mutations in the PRKAR1A gene, including clinical data, molecular data, management and research options.
Carney complex (CNC), caused by pathogenic variants in the PRKAR1A gene, is a multisystem disorder characterized by a spectrum of presentations, but most commonly pigmented skin lesions, and various benign tumors including myxomas, and endocrine tumors or overactivity. CNC is a rare disorder, with less than 1000 affected individuals identified. More than 70% of CNC cases are caused by pathogenic variants in PRKAR1A gene which can be inherited or occur sporadically, known as a de novo variant.
Not all individuals with a pathogenic variant in the PRKAR1A gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PRKAR1A gene.
Rachel Wurth, Post-bac, Stratakis Laboratory, NICHD, NIH, Bethesda, Maryland, Rachel.firstname.lastname@example.org
Fady Hannah-Shmouni, MD FRCPC, Principal Investigator, Stratakis Laboratory, Bethesda, Maryland, email@example.com
Fabio R. Faucz, PhD, Staff Scientist, Stratakis Laboratory, Bethesda, Maryland, firstname.lastname@example.org
Constantine A. Stratakis, MD D(Med) Sci, Senior Investigator, Stratakis Laboratory, Bethesda, Maryland, email@example.com