MCID: AXN001
MIFTS: 38

Axonal Neuropathy malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Axonal Neuropathy

Aliases & Descriptions for Axonal Neuropathy:

Name: Axonal Neuropathy 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:7319
NCIt 47 C27301
SNOMED-CT 64 60703000
UMLS 69 C0270921

Summaries for Axonal Neuropathy

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). The drugs Choline and Cytidine Diphosphate Choline have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotypes are behavior/neurological and cellular

Related Diseases for Axonal Neuropathy

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 220)
id Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy via 31.5 C12orf65 MFN2 PMP22
2 charcot-marie-tooth disease, type 2a2 31.4 C12orf65 MFN2 TRIM2
3 charcot-marie-tooth disease, type 2j 31.0 BSCL2 DCAF8 GARS MFN2 PMP22
4 giant axonal neuropathy 12.4
5 neuromyotonia and axonal neuropathy, autosomal recessive 12.3
6 acute motor axonal neuropathy 12.2
7 spinocerebellar ataxia, autosomal recessive with axonal neuropathy 12.2
8 giant axonal neuropathy 2, autosomal dominant 12.2
9 gars-associated axonal neuropathy 12.0
10 acute motor-sensory axonal neuropathy 12.0
11 infantile axonal neuropathy 12.0
12 severe infantile axonal neuropathy 12.0
13 moebius axonal neuropathy hypogonadism 11.9
14 spinocerebellar ataxia with axonal neuropathy type 2 11.9
15 severe early-onset axonal neuropathy due to nefl deficiency 11.9
16 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.8
17 microcephaly-complex motor and sensory axonal neuropathy syndrome 11.8
18 severe early-onset axonal neuropathy due to mfn2 deficiency 11.8
19 giant axonal neuropathy-1 11.6
20 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
21 neuronopathy, distal hereditary motor, type vi 11.1
22 mitochondrial dna depletion syndrome 7 11.0
23 charcot-marie-tooth disease, type 1b 10.9
24 spastic paraplegia 56, autosomal recessive 10.9
25 neuropathy, hereditary motor and sensory, type vib 10.9
26 charcot-marie-tooth disease, type 2e 10.9
27 charcot-marie-tooth disease, axonal, type 2s 10.9
28 hereditary motor and sensory neuropathy, type iic 10.9
29 charcot-marie-tooth disease, dominant intermediate b 10.9
30 charcot-marie-tooth neuropathy, x-linked dominant, 1 10.9
31 progressive external ophthalmoplegia, autosomal dominant 1 10.9
32 neuropathy 10.9
33 spinocerebellar ataxia, autosomal recessive 1 10.8
34 spinocerebellar ataxia 5 10.8
35 spinocerebellar ataxia 4 10.8
36 keratoderma palmoplantar spastic paralysis 10.8
37 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.8
38 spinal muscular atrophy with respiratory distress type 2 10.8
39 charcot-marie-tooth disease, type 2a1 10.8
40 charcot-marie-tooth disease, recessive intermediate c 10.8
41 charcot-marie-tooth disease, type 2b1 10.8
42 charcot-marie-tooth disease, type 2i 10.8
43 trifunctional protein deficiency 10.8
44 charcot-marie-tooth disease, type 2b 10.8
45 charcot-marie-tooth disease, type 2r 10.8
46 hereditary motor and sensory neuropathy v 10.8
47 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.8
48 charcot-marie-tooth disease, axonal, type 2w 10.8
49 charcot-marie-tooth disease, type 4c 10.8
50 charcot-marie-tooth disease, type 4j 10.8

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



Diseases related to Axonal Neuropathy

Symptoms & Phenotypes for Axonal Neuropathy

MGI Mouse Phenotypes related to Axonal Neuropathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 NEFL PMP22 TDP1 TRIM2 TRPV4 ATL1
2 cellular MP:0005384 10 BAG3 BSCL2 GAN HINT1 KIF5A LMNA
3 muscle MP:0005369 9.76 BAG3 GAN GARS LMNA MFN2 PMP22
4 nervous system MP:0003631 9.65 GAN GARS KIF5A LMNA MFN2 NEFL
5 normal MP:0002873 9.23 NEFL SLC25A4 VRK1 GARS HINT1 KIF5A

Drugs & Therapeutics for Axonal Neuropathy

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

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Choline Approved, Nutraceutical Phase 4 62-49-7 305
2 Cytidine Diphosphate Choline Phase 4
3 Nootropic Agents Phase 4
4
Nitric Oxide Approved Phase 3 10102-43-9 145068
5 Analgesics Phase 3,Phase 1
6
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
9 N-monoacetylcystine Phase 2
10 Thioctic Acid Phase 2
11 Tocopherols Phase 2
12 Tocotrienols Phase 2
13 Trace Elements Phase 2
14 Vitamin B Complex Phase 2
15 Vitamins Phase 2
16 Expectorants Phase 2
17 Anti-Infective Agents Phase 2
18 Protective Agents Phase 2
19 Antidotes Phase 2
20 Respiratory System Agents Phase 2
21 Micronutrients Phase 2
22 Antiviral Agents Phase 2
23 Antioxidants Phase 2
24 Folate Nutraceutical Phase 2
25 Tocopherol Nutraceutical Phase 2
26 Tocotrienol Nutraceutical Phase 2
27 Alpha-lipoic Acid Nutraceutical Phase 2
28 Vitamin B9 Nutraceutical Phase 2
29
flupirtine Approved, Investigational Phase 1 56995-20-1 53276
30 Peripheral Nervous System Agents Phase 1
31
Capsaicin Approved 404-86-4 1548943
32 Liver Extracts
33 Immunoglobulins
34 gamma-Globulins
35 Immunoglobulins, Intravenous
36 Rho(D) Immune Globulin
37 Antibodies

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03046693 Phase 4
2 Near Infrared Light for the Treatment of Painful Peripheral Neuropathy Terminated NCT00125268 Phase 3
3 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2
4 Safety Assessment of Intravitreal Mesenchymal Stem Cells for Acute Non Arteritic Anterior Ischemic Optic Neuropathy Not yet recruiting NCT03173638 Phase 2
5 Effect of the Kv7-channel Opener Flupirtine on the Excitability of Human Peripheral Myelinated Axons in Vivo Completed NCT01450865 Phase 1
6 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1
7 The Significance of Glucose Intolerance in the Pathogenesis of Idiopathic Axonal Polyneuropathy Terminated NCT00228345 Phase 1
8 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
9 Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy Completed NCT01847937
10 CHRONIC OPTIC NEUROPATHY IN MULTIPLE SCLEROSIS Completed NCT02543788
11 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
12 Use of QTRAC Technique to Measure Axonal Excitability in Anti-MAG Neuropathy Recruiting NCT02468596
13 Feasibility and Reliability of Multimodal Evoked Potentials in an International Multicenter Setting Recruiting NCT03047460
14 The Effect of Bariatric Surgery on Peripheral Nerve Function and Axonal Regeneration Active, not recruiting NCT02218866
15 Exploratory Study of Predictive Markers of the Therapeutic Response in Patients With Chronic Inflammatory Demyelinating Polyradiculoneuropathy Treated With Intravenous Immunoglobulin Not yet recruiting NCT02892890
16 Giant Axonal Neuropathy Natural History Study Terminated NCT01503125

Search NIH Clinical Center for Axonal Neuropathy

Genetic Tests for Axonal Neuropathy

Anatomical Context for Axonal Neuropathy

MalaCards organs/tissues related to Axonal Neuropathy:

39
Skin, Brain, Testes, Tongue, T Cells, Endothelial, Globus Pallidus

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 362)
id Title Authors Year
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

Expression for Axonal Neuropathy

Search GEO for disease gene expression data for Axonal Neuropathy.

Pathways for Axonal Neuropathy

GO Terms for Axonal Neuropathy

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

id Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA VRK1

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 ATL1 BAG3 BSCL2 DCAF8 GAN KIF5A

Sources for Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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