Andersen Syndrome
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.
Year introduced: 2006
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Subheadings:
Tree Number(s): C14.280.067.565.070, C14.280.123.625.070, C16.131.240.400.715.070, C23.550.073.547.070
MeSH Unique ID: D050030
Entry Terms:
- Syndrome, Andersen
- Andersen-Tawil Syndrome
- Andersen Cardiodysrhythmic Periodic Paralysis
- Andersen Cardiodysrythmic Periodic Paralysis
- Andersen Tawil Syndrome
- Syndrome, Andersen Tawil
- 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
See Also: