Concept information
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Congenital Abnormalities
Cardiovascular Abnormalities
Heart Defects, Congenital
Long QT Syndrome
Terme préférentiel
Andersen Syndrome
Type
-
mesh:Descriptor
Définition
- 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.
Concept générique
Synonyme(s)
- 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
Qualificatif(s) autorisé(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
Traductions
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français
-
Paralysie périodique avec dysrythmie cardiaque d'Andersen
-
Paralysie périodique sensible au potassium avec dysrythmie cardiaque
-
Paralysie périodique sensible au potassium, ectopie ventriculaire et caractéristiques dysphormiques
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QT long type 7
-
Syndrome d'Andersen-Tawil
-
Syndrome du QT long de type 7
URI
http://data.loterre.fr/ark:/67375/JVR-MS80LFRT-N
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