Andersen Syndrome [Andersenův syndrom]
- Terms
-
Andersen-Tawilův syndrom
Andersenův-Tawilův syndrom
LQT7
LQTS typ 7
syndrom dlouhého QT (kongenitální) typ 7
-
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
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.
- Annotation
- do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV
- DUI
- D050030 MeSH Browser
- CUI
- M0472066
- History note
- 2006
- Public note
- 2006
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 1
- DI
- diagnosis 1
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- diagnostic imaging
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- diet therapy
- DT
- drug therapy
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- economics
- EM
- embryology
- EN
- enzymology
- EP
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- EH
- ethnology
- ET
- etiology 1
- GE
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- IM
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- NU
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- PA
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- PP
- physiopathology
- PC
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- PX
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- RT
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- RH
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- SU
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- TH
- therapy 2
- UR
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- VI
- virology