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.
Aligned Orthopedic Partners
Edward Bieber is an Orthopedics specialist and a Sports Medicine provider in Bethesda, Maryland. Dr. Bieber is rated as an Advanced provider by MediFind in the treatment of Carney Complex. His top areas of expertise are Synovitis, Tendinitis, Tenosynovitis, and Trigger Thumb.
Jerome Bertherat practices in Paris, France. Mr. Bertherat is rated as an Elite expert by MediFind in the treatment of Carney Complex. His top areas of expertise are Adrenal Gland Adenoma, Cushing's syndrome, Adrenal Cancer, Endoscopic Transnasal Transsphenoidal Surgery, and Hepato-Pancreato-Biliary Surgery.
Stephanie Espiard practices in Lille, France. Ms. Espiard is rated as an Elite expert by MediFind in the treatment of Carney Complex. Her top areas of expertise are Cushing's syndrome, Carney Complex, Heart Tumor, Tieche-Jadassohn Nevus, and Islet Cell Transplantation.
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...
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Published Date: March 10, 2025
Published By: National Institutes of Health