Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Andersen Syndrome 
Descriptor Spanish:   Síndrome de Andersen 
Descriptor Portuguese:   Síndrome de Andersen 
Synonyms English:   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
Periodic Paralysis, Potassium Sensitive Cardiodysrhythmic Type
Syndrome, Andersen
Syndrome, Andersen Tawil  
Tree Number:   C14.280.067.565.070
Definition English:   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. 
Indexing Annotation English:   do not confuse with ANDERSEN DISEASE see GLYCOGEN STORAGE DISEASE TYPE IV
See Related English:   Pierre Robin Syndrome
History Note English:   2006 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   50502 
Unique Identifier:   D050030 

Occurrence in VHL: