Giant Axonal Neuropathy [axonální neuropatie s obrovskými axony]

topical
1
Terms

autozomálně recesivní neuropatie s obrovskými axony
axonální neuropatie s obrovskými axony 1

 

Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant Axonal
Neuropathy, Giant Axonal, Autosomal Recessive

Persistent link   https://www.medvik.cz/link/D056768
Definition

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).

DUI
D056768 MeSH Browser
CUI
M0529104
Previous indexing
Peripheral Nervous System Diseases (1972-2009)
History note
2010
Public note
2010

Allowable subheadings

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

C Diseases
C10 Nervous System Diseases 1 884
C10.500 Nervous System Malformations 82
C10.500.300 Hereditary Sensory and Motor Neuropathy 72
C10.500.300.099 Alstrom Syndrome 1
C10.500.300.200 Charcot-Marie-Tooth Disease 159
C10.500.300.490 Giant Axonal Neuropathy 1
C10.500.300.780 Refsum Disease 6
C10.500.300.820 Spastic Paraplegia, Hereditary 24
C10.574 Neurodegenerative Diseases 649
C10.574.500 Heredodegenerative Disorders, Nervous System 46
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 72
C10.574.500.495.099 Alstrom Syndrome 1
C10.574.500.495.200 Charcot-Marie-Tooth Disease 159
C10.574.500.495.490 Giant Axonal Neuropathy 1
C10.574.500.495.780 Refsum Disease 6
C10.574.500.495.820 Spastic Paraplegia, Hereditary 24
C10.668 Neuromuscular Diseases 333
C10.668.829 Peripheral Nervous System Diseases 495
C10.668.829.025 Acrodynia 8
C10.668.829.050 Amyloid Neuropathies 17
C10.668.829.100 Brachial Plexus Neuropathies 50
C10.668.829.250 Complex Regional Pain Syndromes 91
C10.668.829.300 Diabetic Neuropathies 866
C10.668.829.325 Giant Axonal Neuropathy 1
C10.668.829.380 Hand-Arm Vibration Syndrome 8
C10.668.829.425 Isaacs Syndrome 7
C10.668.829.500 Mononeuropathies 66
C10.668.829.550 Nerve Compression Syndromes 148
C10.668.829.600 Neuralgia 533
C10.668.829.650 Neuritis 56
C10.668.829.675 Neurofibromatosis 1 117
C10.668.829.700 Pain Insensitivity, Congenital 10
C10.668.829.712 Peripheral Nerve Injuries 157
C10.668.829.725 Peripheral Nervous System Neoplasms 55
C10.668.829.800 Polyneuropathies 345
C10.668.829.800.300 Hereditary Sensory and Motor Neuropathy 72
C10.668.829.800.300.099 Alstrom Syndrome 1
C10.668.829.800.300.200 Charcot-Marie-Tooth Disease 159
C10.668.829.800.300.490 Giant Axonal Neuropathy 1
C10.668.829.800.300.780 Refsum Disease 6
C10.668.829.800.300.820 Spastic Paraplegia, Hereditary 24
C10.668.829.820 Radiculopathy 148
C10.668.829.860 Small Fiber Neuropathy 9
C10.668.829.900 Tarlov Cysts
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.666 Nervous System Malformations 82
C16.131.666.300 Hereditary Sensory and Motor Neuropathy 72
C16.131.666.300.099 Alstrom Syndrome 1
C16.131.666.300.200 Charcot-Marie-Tooth Disease 159
C16.131.666.300.490 Giant Axonal Neuropathy 1
C16.131.666.300.780 Refsum Disease 6
C16.131.666.300.820 Spastic Paraplegia, Hereditary 24
C16.320 Genetic Diseases, Inborn 1 215
C16.320.400 Heredodegenerative Disorders, Nervous System 46
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 72
C16.320.400.375.099 Alstrom Syndrome 1
C16.320.400.375.200 Charcot-Marie-Tooth Disease 159
C16.320.400.375.490 Giant Axonal Neuropathy 1
C16.320.400.375.780 Refsum Disease 6
C16.320.400.375.820 Spastic Paraplegia, Hereditary 24

Giant Axonal Neuropathy, Autosomal Dominant Disease MeSH Browser

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