MCID: AXN001
MIFTS: 35

Axonal Neuropathy malady

Neuronal diseases, Rare diseases categories

Aliases & Classifications for Axonal Neuropathy

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Aliases & Descriptions for Axonal Neuropathy:

Name: Axonal Neuropathy 10 12 65


Classifications:



External Ids:

Disease Ontology10 DOID:7319
SNOMED-CT59 60703000
NCIt42 C27301

Summaries for Axonal Neuropathy

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MalaCards based summary: Axonal Neuropathy is related to charcot-marie-tooth disease, type 1b and charcot-marie-tooth disease, type 2e. An important gene associated with Axonal Neuropathy is GAN (Gigaxonin). Affiliated tissues include skin, bone and brain, and related mouse phenotypes are muscle and cellular.

Related Diseases for Axonal Neuropathy

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Diseases in the Axonal Neuropathy family:

Infantile Axonal Neuropathy Severe Infantile Axonal Neuropathy

Diseases related to Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 276)
idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease, type 1b29.9GDAP1, LMNA, MFN2, TRPV4
2charcot-marie-tooth disease, type 2e29.3GARS, GDAP1, MFN2, PMP22, TRPV4
3neuropathy11.3
4giant axonal neuropathy11.1
5acute motor axonal neuropathy11.0
6neuromyotonia and axonal neuropathy, autosomal recessive10.8
7acute motor-sensory axonal neuropathy10.6
8spinocerebellar ataxia, autosomal recessive with axonal neuropathy10.6
9ataxia10.6
10giant axonal neuropathy-110.5
11spasticity10.5
12giant axonal neuropathy 2, autosomal dominant10.5
13paraplegia10.5
14infantile axonal neuropathy10.5
15spinocerebellar ataxia10.4
16gars-associated axonal neuropathy10.4
17moebius axonal neuropathy hypogonadism10.4
18severe infantile axonal neuropathy10.4
19hepatitis10.4
20neuronitis10.4
21polyneuropathy10.4
22encephalopathy10.4
23mitochondrial dna depletion syndrome 710.3
24neuronopathy, distal hereditary motor, type vi10.3
25critical illness polyneuropathy10.3
26myelitis10.3
27myopathy10.3
28peripheral neuropathy10.3
29transverse myelitis10.3
30severe early-onset axonal neuropathy due to nefl deficiency10.3
31ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.3
32progressive external ophthalmoplegia, autosomal dominant 110.3
33hereditary spastic paraplegia10.3
34spinal muscular atrophy10.3
35cerebritis10.3
36muscular atrophy10.3
37influenza10.3
38peripheral nervous system disease10.3
39möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.3
40microcephaly-complex motor and sensory axonal neuropathy10.3
41severe early-onset axonal neuropathy due to mfn2 deficiency10.3
42spinocerebellar ataxia type 1 with axonal neuropathy10.3
43hereditary motor and sensory neuropathy via10.2
44systemic lupus erythematosus10.2
45cerebellar ataxia10.2
46spastic paraplegia 56, autosomal recessive10.2
47charcot-marie-tooth disease, type 2r10.2
48hereditary motor and sensory neuropathy v10.2
49neuropathy, hereditary motor and sensory, type vib10.2
50charcot-marie-tooth disease, axonal, type 2f10.2

Graphical network of the top 20 diseases related to Axonal Neuropathy:



Diseases related to axonal neuropathy

Symptoms for Axonal Neuropathy

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Drugs & Therapeutics for Axonal Neuropathy

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Drugs for Axonal Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Nitric OxideapprovedPhase 354010102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
2
AcetylcysteineapprovedPhase 2280616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
3
Folic Acidapproved, nutraceuticalPhase 2285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
4
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
5TocopherolsPhase 2355
6Vitamin B ComplexPhase 22775
7Thioctic AcidPhase 297
8N-monoacetylcystinePhase 2280
9ExpectorantsPhase 2320
10TocotrienolsPhase 2352
11Vitamin B9NutraceuticalPhase 22851
12TocopherolNutraceuticalPhase 2355
13TocotrienolNutraceuticalPhase 2352
14Alpha-lipoic AcidNutraceuticalPhase 297
15FolateNutraceuticalPhase 22851
16
flupirtineapproved, investigationalPhase 1356995-20-153276
Synonyms:
Flupirtine
Flupirtine maleate
 
SID11111201
SID124880149
SID90341043
17
FluoresceinapprovedPhase 11042321-07-516850
Synonyms:
2-(6-Hydroxy-3-oxo-3H-xanthen-9-yl)-benzoic acid
3',6'-dihydroxyfluoran
3,6-fluorandiol
9-(o-carboxyphenyl)-6-hydroxy-3-isoxanthenone
9-(o-carboxyphenyl)-6-hydroxy-3H-xanthen-3-one
Ak-fluor
C.I. Solvent Yellow 94
D and C Yellow No. 7
 
D&C Yellow No. 7
Fluorescein disodium
Fluoresceine
Fluorescite
Fluoreszein
Japan Yellow 201
Resorcinolphthalein
Solvent Yellow 94
Yellow fluorescein
18
Capsaicin138404-86-41548943
Synonyms:
(6E)-N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
(6E)-N-{[4-hydroxy-3-(methyloxy)phenyl]methyl}-8-methylnon-6-enamide
(E)-8-Methyl-N-vanillyl-6-nonenamide
(E)-8-Methyl-N-vanillyl-6-nonenamide(8cl)
(E)-Capsaicin
(E)-N-((4-Hydroxy-3-methoxyphenyl)-methyl)-8-methyl-6-nonenamide
(E)-N-[(4-hydroxy-3-methoxyphenyl)methyl]-8-methylnon-6-enamide
(E)8-methyl-N-vanillyl-6-Nonenamide
12084_FLUKA
21748_FLUKA
21748_SIGMA
21750_FLUKA
21750_SIGMA
360376_ALDRICH
360376_SIGMA
404-86-4
6-Nonenamide, (E)-N-((4-hydroxy-3-methoxy-phenyl)methyl)-8-methyl
6-Nonenamide, 8-methyl-N-vanillyl-, (E)- (8CI)
8 Methyl N Vanillyl 6 Nonenamide
8-Methyl-N-Vanillyl-6-Nonenamide
8-Methyl-N-vanillyl-trans-6-nonenamide
912457-62-6
AC1LU7K3
AC1Q46B3
Alacan Brand of Capsaicin
Antiphlogistine Rub A-535 Capsaicin
Axsain
BPBio1_001053
BRD-K37056290-001-01-1
BRD-K50590187-001-06-6
BRN 2816484
BSPBio_000957
BSPBio_001548
BSPBio_002917
Bio-0615
C-1700
C06866
C18H27NO3
CAPSAICIN (2444-46-4 NONIVAMIDE (SYNTHETIC CAPSAICIN))
CAPSAICINE
CCRIS 1588
CHEBI:3374
CHEMBL294199
CID1548943
Capsaicin
Capsaicin (JAN/USP)
Capsaicin (Natural)
Capsaicin (in oleoresin of capsicum)
Capsaicin (jan/usp)
Capsaicin Patch
Capsaicin [USAN]
Capsaicin [in oleoresin of capsicum]
Capsaicin [usan]
Capsicum Farmaya
Capsidol
Capsin
Capzasin
Carter Horner Brand of Capsaicin
Caswell No. 158
Centrum Brand of Capsaicin
D002211
D00250
E-CAPSAICIN
E-Capsaicin
EINECS 206-969-8
EPA Pesticide Chemical Code 070701
Elan Brand of Capsaicin
FEMA No. 3404
FT-0082538
Flemming Brand of Capsaicin
Gelcen
HMS1361N10
HMS1570P19
HMS1791N10
HMS1921H11
HMS1989N10
 
HMS2089N11
HMS2092D21
HMS501B16
HSDB 954
I01-2469
IDI1_000354
IDI1_034018
Isodecenoate
Isodecenoic acid
Isodecenoic acid vanillylamide
Katrum
LS-2138
Link Brand of Capsaicin
M1149
M2028_SIGMA
MEGxp0_001448
MLS002154049
MR3H3
Medicis Brand of Capsaicin
MolPort-001-742-263
N-(4-Hydroxy-3-methoxybenzyl)-8-methylnon-trans-6-enamide
N-(4-hydroxy-3-methoxybenzyl)-8-methylnon-6-enamide
N-[(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
N-[(4-hydroxy-3-methoxy-phenyl)methyl]nonanamide
NCGC00090853-01
NCGC00090853-02
NCGC00090853-03
NCGC00090853-04
NCGC00090853-06
NCGC00090853-07
NCGC00090853-08
NCGC00090853-09
NCI-C56564
NGX 4010
NGX-1998
NGX-3781
NGX-4010
NGX-7325
NGX4010
NSC 56353
NSC56353
Prestwick2_000879
Prestwick3_000879
Prestwick_204
Qutenza
S1990_Selleck
SDCCGMLS-0066678.P001
SMP2_000337
SMR000718774
SPECTRUM1501128
Smaller Brand of Capsaicin
Spectrum5_000538
Styptysat
TL8002946
TQ-1018
Thompson Brand of Capsaicin
Transacin
UNII-S07O44R1ZM
UPCMLD-DP092
UPCMLD-DP092:001
UPCMLD-DP092:002
Vinas Brand of Capsaicin
ZINC01530575
ZOSTRIX (TN)
Zacin
Zostrix
Zostrix (TN)
Zostrix HP
[(E)-N-(4-Hydroxy-3-methoxyphenyl)methyl]-8-methyl-6-nonenamide
depletes Substance P
epsilon-Capsaicin
n-(4-hydroxy-3-methoxybenzyl)-8-methyl-6-nonenamide
nchembio.146-comp1
nchembio862-comp2
neurotoxic
trans-8-Methyl-N-vanillyl-6-nonenamide
trans-Capsaicin

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Near Infrared Light for the Treatment of Painful Peripheral NeuropathyTerminatedNCT00125268Phase 3
2A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of AntioxidantsCompletedNCT01495260Phase 2
3Effect of the Kv7-channel Opener Flupirtine on the Excitability of Human Peripheral Myelinated Axons in VivoCompletedNCT01450865Phase 1
4Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal NeuropathyRecruitingNCT02362438Phase 1
5The Significance of Glucose Intolerance in the Pathogenesis of Idiopathic Axonal PolyneuropathyTerminatedNCT00228345Phase 1
6Magnetic Resonance Diagnostics of Diabetic Peripheral NeuropathyRecruitingNCT01847937
7Use of QTRAC Technique to Measure Axonal Excitability in Anti-MAG NeuropathyRecruitingNCT02468596
8The Effect of Bariatric Surgery on Peripheral Nerve Function and Axonal RegenerationRecruitingNCT02218866
9CHRONIC OPTIC NEUROPATHY IN MULTIPLE SCLEROSISRecruitingNCT02543788
10Giant Axonal Neuropathy Natural History StudyActive, not recruitingNCT01503125
11Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1ANot yet recruitingNCT01750710

Search NIH Clinical Center for Axonal Neuropathy

Genetic Tests for Axonal Neuropathy

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Anatomical Context for Axonal Neuropathy

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MalaCards organs/tissues related to Axonal Neuropathy:

33
Skin, Bone, Brain, Testes, Globus pallidus, Tongue, Endothelial

Animal Models for Axonal Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Axonal Neuropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.8GAN, GARS, LMNA, MFN2, PMP22, TRPV4
2MP:00053847.6C10orf2, GAN, HINT1, LMNA, MFN2, PMP22
3MP:00036317.1GAN, GARS, LMNA, MFN2, PMP22, TDP1
4MP:00053866.3ATL1, GAN, GARS, LMNA, MFN2, PMP22

Publications for Axonal Neuropathy

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Articles related to Axonal Neuropathy:

(show top 50)    (show all 329)
idTitleAuthorsYear
1
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (26460568)
2015
2
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). (26330398)
2015
3
Overexpression of mutant HSP27 causes axonal neuropathy in mice. (26141737)
2015
4
Acute motor axonal neuropathy in a child with atypical presentation: a case report. (25621680)
2015
5
Elevated blood mercury levels in idiopathic axonal neuropathy. (25867721)
2015
6
Temporary conduction block in acute motor axonal neuropathy. (26442689)
2015
7
1275: LOCKED IN: A PEDIATRIC CASE OF ACUTE MOTOR AND SENSORY AXONAL NEUROPATHY. (26570936)
2015
8
Giant Axonal Neuropathy. (25213662)
2014
9
PARK2 presenting as a disabling peripheral axonal neuropathy. (25060649)
2014
10
Compound muscle action potential amplitude and distal potential duration in axonal neuropathy. (24038120)
2014
11
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
12
De novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy and Cerebellar Atrophy. (25265257)
2014
13
A case of acute motor and sensory axonal neuropathy following hepatitis a infection. (24339719)
2013
14
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
15
Transverse myelitis and acute motor sensory axonal neuropathy due to Legionella pneumophila: A case report. (24330286)
2013
16
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
17
Acute transverse myelitis and acute motor axonal neuropathy developed after vaccinations against seasonal and 2009 A/H1N1 influenza. (21372468)
2011
18
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
19
Antiretroviral therapy-associated acute motor and sensory axonal neuropathy. (21327178)
2011
20
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
21
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. (20039262)
2009
22
Reversible encephalopathy and axonal neuropathy in Parkinson's disease during duodopa therapy. (19795477)
2009
23
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
24
Disruption of fibroblast growth factor receptor signaling in nonmyelinating Schwann cells causes sensory axonal neuropathy and impairment of thermal pain sensitivity. (19211868)
2009
25
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (19293842)
2009
26
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
27
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
28
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
29
Acute motor axonal neuropathy presenting with bowel, bladder, and erectile dysfunction. (17334958)
2007
30
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
31
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
32
Cerebellar ataxia and acute motor axonal neuropathy associated with Anti GD1b and Anti GM1 antibodies. (16054817)
2005
33
Overexpression of GD1a ganglioside sensitizes motor nerve terminals to anti-GD1a antibody-mediated injury in a model of acute motor axonal neuropathy. (15716397)
2005
34
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
35
Acute motor axonal neuropathy with selective involvement of the lower limbs. (19078684)
2002
36
Axonal neuropathy in chronic peripheral arterial occlusive disease. (12362411)
2002
37
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
38
Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy. (10918266)
2000
39
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. (9701481)
1998
40
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
41
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
42
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
43
Abnormalities of sympathetic vasomotor tone in distal axonal neuropathy. (2544682)
1989
44
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
45
Congenital giant axonal neuropathy. (2990373)
1985
46
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
47
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
48
Giant axonal neuropathy: combined central and peripheral nervous system disease. (217319)
1979
49
The central nervous system in canine giant axonal neuropathy. (223361)
1979
50
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977

Variations for Axonal Neuropathy

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Expression for genes affiliated with Axonal Neuropathy

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Search GEO for disease gene expression data for Axonal Neuropathy.

Pathways for genes affiliated with Axonal Neuropathy

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GO Terms for genes affiliated with Axonal Neuropathy

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Biological processes related to Axonal Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fusionGO:000805310.1GDAP1, MFN2
2protein targeting to mitochondrionGO:00066269.8GDAP1, MFN2

Molecular functions related to Axonal Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C bindingGO:00050809.7HINT1, TRPV4

Sources for Axonal Neuropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet