Disease or Syndrome
carney complex
[ kahr-nee kom-pleks ]
Subclass of:
Multiple congenital anomalies;
Skin Abnormalities;
Heart Neoplasm;
Myxoma
Definitions related to carney complex:
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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.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
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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 melanotic schwannomas.NCI ThesaurusU.S. National Cancer Institute, 2021
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An autosomal dominant syndrome most often caused by heterozygous inactivating mutations in a potential tumor suppressor gene, PRKAR1A, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. This condition is characterized by increased risk of myxomas in the heart, psammomatous melanotic schwannomas and letigines, and tumors in many endocrine organs. A distinctive feature of this condition is primary pigmented nodular adrenocortical disease (PPNAD), which results in hyperadrenocortisolism. Pituitary gland involvement includes functional pituitary adenomas that result in excess growth hormone production.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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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).NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years.GeneReviewsUniversity of Washington, 2021
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Carney complex is an autosomal dominant syndrome associated with spotty pigmentation of the skin, endocrinopathy, and endocrine and nonendocrine tumors. (See Pathophysiology, Etiology, and Clinical Presentation.WebMD, 2019
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Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to...National Center for Advancing Translational Sciences
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