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GIANT AXONAL NEUROPATHY 1
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DeCS
Descriptor
English
:
Giant Axonal Neuropathy
Descriptor
Spanish
:
Neuropatía Axonal Gigante
Descriptor
Portuguese
:
Neuropatia Axonal Gigante
Synonyms
English
:
Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Tree Number:
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
Definition
English
:
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).
History Note
English
:
2010
Allowable Qualifiers
English
:
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
Record Number:
53516
Unique Identifier:
D056768
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS