MCID: AXN001
MIFTS: 38

Axonal Neuropathy malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Axonal Neuropathy

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Aliases & Descriptions for Axonal Neuropathy:

Name: Axonal Neuropathy 11 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:7319
SNOMED-CT62 60703000
NCIt45 C27301

Summaries for Axonal Neuropathy

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MalaCards based summary: Axonal Neuropathy is related to hereditary motor and sensory neuropathy via and charcot-marie-tooth disease, type 2a2. An important gene associated with Axonal Neuropathy is GAN (Gigaxonin). Affiliated tissues include skin, brain and testes, and related mouse phenotypes are muscle and nervous system.

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 221)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary motor and sensory neuropathy via31.5C12orf65, MFN2, PMP22
2charcot-marie-tooth disease, type 2a231.4C12orf65, MFN2, TRIM2
3charcot-marie-tooth disease, type 2j31.0BSCL2, DCAF8, GARS, MFN2, PMP22
4giant axonal neuropathy12.4
5neuromyotonia and axonal neuropathy, autosomal recessive12.3
6acute motor axonal neuropathy12.2
7spinocerebellar ataxia, autosomal recessive with axonal neuropathy12.2
8giant axonal neuropathy 2, autosomal dominant12.2
9gars-associated axonal neuropathy12.0
10acute motor-sensory axonal neuropathy12.0
11infantile axonal neuropathy12.0
12severe infantile axonal neuropathy12.0
13moebius axonal neuropathy hypogonadism11.9
14spinocerebellar ataxia with axonal neuropathy type 211.9
15severe early-onset axonal neuropathy due to nefl deficiency11.9
16moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome11.8
17microcephaly-complex motor and sensory axonal neuropathy syndrome11.8
18severe early-onset axonal neuropathy due to mfn2 deficiency11.8
19giant axonal neuropathy-111.6
20ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia11.4
21neuronopathy, distal hereditary motor, type vi11.1
22mitochondrial dna depletion syndrome 711.0
2310.9
24charcot-marie-tooth disease, type 1b10.9
25spastic paraplegia 56, autosomal recessive10.9
26neuropathy, hereditary motor and sensory, type vib10.9
27charcot-marie-tooth disease, type 2e10.9
28charcot-marie-tooth disease, axonal, type 2s10.9
29hereditary motor and sensory neuropathy, type iic10.9
30charcot-marie-tooth disease, dominant intermediate b10.9
31charcot-marie-tooth neuropathy, x-linked dominant, 110.9
32progressive external ophthalmoplegia, autosomal dominant 110.9
33neuropathy10.9
34spinocerebellar ataxia, autosomal recessive 110.8
35spinocerebellar ataxia 510.8
36spinocerebellar ataxia 410.8
37keratoderma palmoplantar spastic paralysis10.8
38infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome10.8
39spinal muscular atrophy with respiratory distress type 210.8
40charcot-marie-tooth disease, type 2a110.8
41charcot-marie-tooth disease, recessive intermediate c10.8
42charcot-marie-tooth disease, type 2b110.8
43charcot-marie-tooth disease, type 2i10.8
44trifunctional protein deficiency10.8
45charcot-marie-tooth disease, type 2b10.8
46charcot-marie-tooth disease, type 2r10.8
47hereditary motor and sensory neuropathy v10.8
48progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.8
49charcot-marie-tooth disease, axonal, type 2w10.8
50charcot-marie-tooth disease, type 4c10.8

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



Diseases related to axonal neuropathy

Symptoms & Phenotypes for Axonal Neuropathy

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MGI Mouse Phenotypes related to Axonal Neuropathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0BAG3, GAN, GARS, LMNA, MFN2, PMP22
2MP:00036318.6GAN, GARS, KIF5A, LMNA, MFN2, NEFL
3MP:00028737.8GARS, HINT1, KIF5A, LMNA, MFN2, NEFL
4MP:00053847.7BAG3, BSCL2, GAN, HINT1, KIF5A, LMNA
5MP:00053867.2ATL1, BAG3, BSCL2, GAN, GARS, KIF5A

Drugs & Therapeutics for Axonal Neuropathy

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

(show all 37)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cholineapproved, nutraceuticalPhase 415462-49-7305
Synonyms:
(2-Hydroxyethyl)trimethyl ammonium
(2-Hydroxyethyl)trimethylammonium
(beta-hydroxyethyl)trimethylammonium
2-Hydroxy-N,N,N-trimethyl-ethanaminium
2-Hydroxy-N,N,N-trimethylethanaminium
Bilineurine
Biocolina
Biocoline
Choline
Choline cation
 
Choline ion
Cholinum
Hepacholine
Hormocline
Lipotril
N,N,N-Trimethylethanol-ammonium
N,N,N-Trimethylethanolammonium
N,N,N-trimethylethanol-ammonium
N-trimethylethanolamine
Neocolina
Paresan
trimethylethanolamine
2Nootropic AgentsPhase 4716
3Cytidine Diphosphate CholinePhase 430
4
Nitric OxideapprovedPhase 361710102-43-9145068
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)
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
5AnalgesicsPhase 3, Phase 111733
6
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
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
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
7
Folic Acidapproved, nutraceutical, vet_approvedPhase 2439259-30-36037
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 (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
8
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
9VitaminsPhase 25282
10Respiratory System AgentsPhase 24997
11Protective AgentsPhase 27443
12TocopherolsPhase 2414
13Trace ElementsPhase 26001
14TocotrienolsPhase 2410
15Vitamin B ComplexPhase 24337
16Thioctic AcidPhase 2118
17AntioxidantsPhase 23050
18Anti-Infective AgentsPhase 222062
19N-monoacetylcystinePhase 2330
20Antiviral AgentsPhase 29967
21AntidotesPhase 21071
22MicronutrientsPhase 26001
23ExpectorantsPhase 2404
24Vitamin B9NutraceuticalPhase 24392
25Alpha-lipoic AcidNutraceuticalPhase 2118
26FolateNutraceuticalPhase 24392
27TocopherolNutraceuticalPhase 2414
28TocotrienolNutraceuticalPhase 2410
29
flupirtineapproved, investigationalPhase 1356995-20-153276
Synonyms:
 
Flupirtine
30Peripheral Nervous System AgentsPhase 123689
31
Capsaicinapproved176404-86-41548943
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
32Liver Extracts4067
33Rho(D) Immune Globulin326
34Immunoglobulins, Intravenous333
35Antibodies6394
36gamma-Globulins326
37Immunoglobulins6394

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION)RecruitingNCT03046693Phase 4
2Near Infrared Light for the Treatment of Painful Peripheral NeuropathyTerminatedNCT00125268Phase 3
3A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of AntioxidantsCompletedNCT01495260Phase 2
4Safety Assessment of Intravitreal Mesenchymal Stem Cells for Acute Non Arteritic Anterior Ischemic Optic NeuropathyNot yet recruitingNCT03173638Phase 2
5Effect of the Kv7-channel Opener Flupirtine on the Excitability of Human Peripheral Myelinated Axons in VivoCompletedNCT01450865Phase 1
6Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal NeuropathyRecruitingNCT02362438Phase 1
7The Significance of Glucose Intolerance in the Pathogenesis of Idiopathic Axonal PolyneuropathyTerminatedNCT00228345Phase 1
8Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1AUnknown statusNCT01750710
9Magnetic Resonance Diagnostics of Diabetic Peripheral NeuropathyCompletedNCT01847937
10CHRONIC OPTIC NEUROPATHY IN MULTIPLE SCLEROSISCompletedNCT02543788
11Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
12Use of QTRAC Technique to Measure Axonal Excitability in Anti-MAG NeuropathyRecruitingNCT02468596
13Feasibility and Reliability of Multimodal Evoked Potentials in an International Multicenter SettingRecruitingNCT03047460
14The Effect of Bariatric Surgery on Peripheral Nerve Function and Axonal RegenerationActive, not recruitingNCT02218866
15Exploratory Study of Predictive Markers of the Therapeutic Response in Patients With Chronic Inflammatory Demyelinating Polyradiculoneuropathy Treated With Intravenous ImmunoglobulinNot yet recruitingNCT02892890
16Giant Axonal Neuropathy Natural History StudyTerminatedNCT01503125

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:

36
Skin, Brain, Testes, Tongue, T cells, Endothelial, Globus pallidus

Publications for Axonal Neuropathy

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Articles related to Axonal Neuropathy:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. (28144995)
2017
2
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. (28005197)
2017
3
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. (28224639)
2017
4
Severe Acute Axonal Neuropathy following Treatment with Arsenic Trioxide for Acute Promyelocytic Leukemia: a Case Report. (27158436)
2016
5
Severe axonal neuropathy is a late manifestation of SPG11. (27544499)
2016
6
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. (27023907)
2016
7
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. (27079523)
2016
8
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. (26700320)
2016
9
Unexpected Rapid Improvement and Neurogenic Stunned Myocardium in a Patient With Acute Motor Axonal Neuropathy: A Case Report and Literature Review. (26905914)
2016
10
A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue. (26760849)
2016
11
Axonal neuropathy with neuromyotonia: there is a HINT. (28007994)
2016
12
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature. (27199887)
2016
13
Asymmetric Acute Motor Axonal Neuropathy With Unilateral Tongue Swelling Mimicking Stroke. (27801771)
2016
14
Presynaptic Deficits at Neuromuscular Junctions: A Specific Cause and Potential Target of Axonal Neuropathy in Type 2 Charcot-Marie-Tooth Disease. (27488627)
2016
15
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance. (27720712)
2016
16
Acute Motor Axonal Neuropathy (Aman) With Motor Conduction Blocks In Childhood; Case Report. (27057191)
2016
17
Finger drop sign in a child with acute motor and sensory axonal neuropathy form of Guillain-BarrAc syndrome. (27418363)
2016
18
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. (27369358)
2016
19
A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family. (27428488)
2016
20
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. (27040688)
2016
21
C1q-targeted inhibition of the classical complement pathway prevents injury in a novel mouse model of acute motor axonal neuropathy. (26936605)
2016
22
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. (27838833)
2016
23
Poster 48 A Novel Presentation of Acute Motor Axonal Neuropathy: A Case Report. (27672816)
2016
24
Anti-glycan antibodies halt axon regeneration in a model of Guillain BarrA" Syndrome axonal neuropathy by inducing microtubule disorganization via RhoA-ROCK-dependent inactivation of CRMP-2. (26804001)
2016
25
Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. (27514609)
2016
26
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. (27000625)
2016
27
Early-onset chronic axonal neuropathy, strokes, and hemolysis: Inherited CD59 deficiency. (25716358)
2015
28
Acute motor axonal neuropathy in a child with atypical presentation: a case report. (25621680)
2015
29
A mild case of giant axonal neuropathy without central nervous system manifestation. (26381321)
2015
30
Overexpression of mutant HSP27 causes axonal neuropathy in mice. (26141737)
2015
31
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. (25446393)
2015
32
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. (25846562)
2015
33
Acute motor axonal neuropathy in a patient with prolonged CD4 depletion due to HIV: a local variant of macrophage activation syndrome? (25988079)
2015
34
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (26460568)
2015
35
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. (25695920)
2015
36
Elevated blood mercury levels in idiopathic axonal neuropathy. (25867721)
2015
37
Association between acute motor axonal neuropathy and septic shock due to Acinetobacter baumannii. (26700086)
2015
38
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress. (26675522)
2015
39
Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia. (25674012)
2015
40
1275: LOCKED IN: A PEDIATRIC CASE OF ACUTE MOTOR AND SENSORY AXONAL NEUROPATHY. (26570936)
2015
41
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). (26330398)
2015
42
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. (27066569)
2015
43
Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia. (26059562)
2015
44
Temporary conduction block in acute motor axonal neuropathy. (26442689)
2015
45
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. (27066553)
2015
46
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy. (26693541)
2014
47
Axonal neuropathy in female carriers of the fragile X premutation with fragile X-associated tremor ataxia syndrome. (25388402)
2014
48
PARK2 presenting as a disabling peripheral axonal neuropathy. (25060649)
2014
49
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
50
Giant Axonal Neuropathy. (25213662)
2014

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
1mitotic nuclear envelope reassemblyGO:00070849.7LMNA, VRK1

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055154.6ATL1, BAG3, BSCL2, DCAF8, GAN, KIF5A

Sources for Axonal Neuropathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet