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Concept information

Terme préférentiel

Carney Complex  

Type

  • mesh:Descriptor

Définition

  • 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). Carney Complex, Type 1

Synonyme(s)

  • Carney Myxoma-Endocrine Complex
  • Carney Syndrome
  • LAMB - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome
  • LAMB Syndrome
  • Myxoma, Spotty Pigmentation, and Endocrine Overactivity
  • NAME Syndrome
  • Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome

Traductions

  • français

  • Myxomes, lésions cutanées pigmentées et hyperactivité endocrinienne
  • Myxomes, pigmentation tachetée et hyperactivité endocrinienne

URI

http://data.loterre.fr/ark:/67375/JVR-ZWX0QNJ6-K

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RDF/XML TURTLE JSON-LD Date de création 06/07/2009, dernière modification le 08/07/2013