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skos:definition |
NCI: An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and schwannomas.,MSH: Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2).,NCI: A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney complex, which are caused by mutations (changes) in different genes.
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