- Concept UI
- M0472066
- 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.
- Terms
-
Andersen Syndrome
Preferred Term
Term UI
T608024
Date09/03/2004
LexicalTag
EPO
ThesaurusID
-
Andersen-Tawil Syndrome
Term UI
T812577
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
Andersen Cardiodysrhythmic Periodic Paralysis
Term UI
T812579
Date11/15/2011
LexicalTag
NON
ThesaurusID
-
Andersen Cardiodysrythmic Periodic Paralysis
Term UI
T782101
Date12/13/2010
LexicalTag
EPO
ThesaurusID
-
Andersen Tawil Syndrome
Term UI
T782100
Date12/13/2010
LexicalTag
EPO
ThesaurusID
-
Long QT Syndrome 7
Term UI
T608025
Date09/03/2004
LexicalTag
NON
ThesaurusID
-
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
Term UI
T782102
Date12/13/2010
LexicalTag
NON
ThesaurusID
-
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features
Term UI
T783032
Date12/29/2010
LexicalTag
NON
ThesaurusID