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Concept information

Preferred term

Andersen Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Andersen Cardiodysrhythmic Periodic Paralysis
  • Andersen Cardiodysrythmic Periodic Paralysis
  • Andersen Tawil Syndrome
  • Andersen-Tawil Syndrome
  • Long QT Syndrome 7
  • Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type
  • Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
  • Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features
  • Syndrome, Andersen Tawil

Note

  • do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV

Scope note

  • A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.

History note

  • 2006

In other languages

URI

http://www.yso.fi/onto/mesh/D050030

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