Concept information
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Congenital Abnormalities
Cardiovascular Abnormalities
Heart Defects, Congenital
Long QT Syndrome
Término preferido
Andersen Syndrome
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Tipo
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mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Andersen Cardiodysrhythmic Periodic Paralysis
- Andersen Cardiodysrythmic Periodic Paralysis
- Andersen Tawil Syndrome
- Andersen-Tawil Syndrome
- Long QT Syndrome 7
- Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
- Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features
En otras lenguas
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francés
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Paralysie périodique avec dysrythmie cardiaque d'Andersen
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Paralysie périodique sensible au potassium avec dysrythmie cardiaque
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Paralysie périodique sensible au potassium, ectopie ventriculaire et caractéristiques dysphormiques
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QT long type 7
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Syndrome d'Andersen-Tawil
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Syndrome du QT long de type 7
URI
http://data.loterre.fr/ark:/67375/JVR-MS80LFRT-N
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