Expresión de búsqueda:
ANDERSEN SYNDROME
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DeCS
Descriptor
Inglés
:
Andersen Syndrome
Descriptor
Español
:
Síndrome de Andersen
Descriptor
Portugués
:
Síndrome de Andersen
Categoría:
C14.280.067.565.070
C16.131.240.400.715.070
C23.550.073.547.070
Definición
Inglés
:
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.
Nota de Indización
Inglés
:
do not confuse with ANDERSEN
DISEASE
see
GLYCOGEN STORAGE DISEASE TYPE IV
Relacionados
Inglés
:
Pierre Robin Syndrome
Nota Histórica
Inglés
:
2006
Calificadores Permitidos
Inglés
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Número del Registro:
50502
Identificador Único:
D050030
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS