Carney Complex Overview
Learn About Carney Complex
Carney complex is a disorder that is characterized by changes in skin coloring (pigmentation) and an increased risk of tumors. Many of the signs and symptoms of Carney complex become apparent during adolescence or early adulthood.
Variants (also called mutations) in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene helps control whether protein kinase A is turned on or off.
Carney complex is a rare disorder, although the exact prevalence is unknown. At least 750 affected individuals have been reported in the medical literature. Because Carney complex is rare and the features seen in affected individuals can vary, diagnosis of the condition may be delayed.
Carney complex is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Approximately 30 percent of Carney complex cases result from new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.
Mcv Associated Physicians
Gregory Domson is an Orthopedics provider in Richmond, Virginia. Dr. Domson and is rated as an Advanced provider by MediFind in the treatment of Carney Complex. His top areas of expertise are Bone Tumor, Adult Soft Tissue Sarcoma, Ewing Sarcoma, Bladder Reconstruction, and Knee Replacement. Dr. Domson is currently accepting new patients.
University Of Virginia Physicians Group
Joann Pinkerton is an Obstetrics and Gynecologist in Charlottesville, Virginia. Dr. Pinkerton and is rated as an Advanced provider by MediFind in the treatment of Carney Complex. Her top areas of expertise are Melorheostosis, Melorheostosis with Osteopoikilosis, Osteopenia, and Neonatal Ovarian Cyst. Dr. Pinkerton is currently accepting new patients.
University Of Virginia Physicians Group
Kari Ring is a Gynecologic Oncologist and an Oncologist in Charlottesville, Virginia. Dr. Ring and is rated as an Experienced provider by MediFind in the treatment of Carney Complex. Her top areas of expertise are Endometrial Cancer, Ovarian Cancer, Li-Fraumeni Syndrome, Salpingo-Oophorectomy, and Oophorectomy. Dr. Ring is currently accepting new patients.
Summary: Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and/or distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are am...
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Published Date: March 10, 2025
Published By: National Institutes of Health