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Descriptor in English: Giant Axonal Neuropathy
Descriptor in Spanish: Neuropatía Axonal Gigante
Descriptor in Portuguese: Neuropatia Axonal Gigante
Descriptor in French: Neuropathie à axones géants
Entry term(s): Axonal Neuropathy, Giant
Axonal Neuropathy, Giant (GAN)
Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Neuropathy, Giant Axonal (GAN)
Neuropathy, Giant Axonal, Autosomal Recessive
Tree number(s): 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
Scope note: 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).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
History Note: 2010
DeCS UI: 53516
Descriptor UI: D056768
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2013/07/08
Giant Axonal Neuropathy - Preferred
Concept UI M0529104
Scope note 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).
Preferred term Giant Axonal Neuropathy
Entry term(s) Axonal Neuropathy, Giant
Axonal Neuropathy, Giant (GAN)
Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Neuropathy, Giant Axonal (GAN)
Neuropathy, Giant Axonal, Autosomal Recessive



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