Expresión de búsqueda:
GIANT AXONAL NEUROPATHY
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DeCS
Descriptor
Inglés
:
Giant Axonal Neuropathy
Descriptor
Español
:
Neuropatía Axonal Gigante
Descriptor
Portugués
:
Neuropatia Axonal Gigante
Sinónimos
Inglés
:
Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Categoría:
C10.500.300.490
C10.574.500.495.490
C10.668.829.325
C10.668.829.800.300.490
C16.131.666.300.490
C16.320.400.375.490
Definición
Inglés
:
Rare autosomal recessive disorder of
INTERMEDIATE FILAMENT PROTEINS
. The
disease
is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal
NEUROFILAMENT PROTEINS
, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the
disease
include early-onset progressive peripheral motor and sensory neuropathies often associated with
central nervous system
involvement (
INTELLECTUAL DISABILITY
,
seizures
, DYSMETRIA, and CONGENITAL NYSTAGMUS).
Nota Histórica
Inglés
:
2010
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:
53516
Identificador Único:
D056768
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS