Overview

Carney complex


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An autosomal dominant multiple neoplasia syndrome in which there are cardiac, endocrine, cutaneous, and neural myxomatous tumours, as well as a variety of pigmented lesions of the skin and mucosae. Multiple endocrine glands may be involved, as in multiple endocrine neoplasia syndrome and there are some similarities to McCune–Albright syndrome (See granins). Carney complex type 1 (CNC1) is caused by mutation in the gene encoding protein kinase A regulatory subunit-1α. Carney complex type 2 is genetically heterogenous. The Carney complex variant associated with distal arthrogryposis is caused by mutation in the myosin heavy chain-8 (MYH8) gene.

Subjects: Medicine and Health.


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