MCID: AXN001
MIFTS: 36

Axonal Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Axonal Neuropathy

MalaCards integrated aliases 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 charcot-marie-tooth disease, type 2b1 and charcot-marie-tooth disease, axonal, with vocal cord paresis. 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, liver and brain, 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 227)
id Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 2b1 31.9 GDAP1 LMNA TRIM2
2 charcot-marie-tooth disease, axonal, with vocal cord paresis 31.7 GDAP1 TDP1
3 charcot-marie-tooth disease, recessive intermediate, a 30.7 GDAP1 KIF5A MFN2 TRPV4
4 charcot-marie-tooth disease, type 1f 28.9 GAN GARS GDAP1 LMNA MFN2 NEFH
5 giant axonal neuropathy 12.4
6 neuromyotonia and axonal neuropathy, autosomal recessive 12.3
7 spinocerebellar ataxia, autosomal recessive with axonal neuropathy 12.2
8 acute motor axonal neuropathy 12.2
9 giant axonal neuropathy 2, autosomal dominant 12.1
10 spinocerebellar ataxia with axonal neuropathy type 2 12.1
11 gars-associated axonal neuropathy 12.0
12 infantile axonal neuropathy 12.0
13 acute motor and sensory axonal neuropathy 12.0
14 severe infantile axonal neuropathy 11.9
15 giant axonal neuropathy 2 11.9
16 moebius axonal neuropathy hypogonadism 11.8
17 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.8
18 microcephaly-complex motor and sensory axonal neuropathy syndrome 11.8
19 severe early-onset axonal neuropathy due to mfn2 deficiency 11.8
20 giant axonal neuropathy-1 11.6
21 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
22 mitochondrial dna depletion syndrome 7 11.2
23 neuronopathy, distal hereditary motor, type vi 11.1
24 charcot-marie-tooth disease type 2b5 10.9
25 hereditary motor and sensory neuropathy via 10.9
26 spastic paraplegia 56, autosomal recessive 10.9
27 neuropathy, hereditary motor and sensory, type vib 10.9
28 charcot-marie-tooth disease, type 2e 10.9
29 charcot-marie-tooth disease, axonal, type 2k 10.9
30 charcot-marie-tooth disease, axonal, type 2s 10.9
31 hereditary motor and sensory neuropathy, type iic 10.9
32 charcot-marie-tooth neuropathy, x-linked dominant, 1 10.9
33 progressive external ophthalmoplegia, autosomal dominant 1 10.9
34 neuropathy 10.9
35 chromosome 19q13.11 deletion syndrome, distal 10.8 GDAP1 TDP1
36 spinocerebellar ataxia, autosomal recessive 1 10.8
37 spinocerebellar ataxia 5 10.8
38 spinocerebellar ataxia 4 10.8
39 keratoderma palmoplantar spastic paralysis 10.8
40 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.8
41 spinal muscular atrophy with respiratory distress type 2 10.8
42 neurogenic arthrogryposis multiplex congenita 10.8 DCAF8 GAN
43 harel-yoon syndrome 10.7
44 charcot-marie-tooth disease, type 2a1 10.7
45 charcot-marie-tooth disease, axonal, type 2a2a 10.7
46 charcot-marie-tooth disease, axonal, type 2a2b 10.7
47 charcot-marie-tooth disease, recessive intermediate c 10.7
48 charcot-marie-tooth disease, type 1b 10.7
49 charcot-marie-tooth disease, type 2j 10.7
50 charcot-marie-tooth disease, type 2i 10.7

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 GAN GARS GDAP1 KIF5A LMNA MFN2
2 cellular MP:0005384 10.1 GAN GDAP1 HINT1 KIF5A LMNA MFN2
3 growth/size/body region MP:0005378 9.9 ATAD3A GAN GARS HINT1 KIF5A LMNA
4 muscle MP:0005369 9.56 GAN GARS LMNA MFN2 PMP22 POLG
5 nervous system MP:0003631 9.47 ZFYVE26 GAN GARS GDAP1 KIF5A LMNA

Drugs & Therapeutics for Axonal Neuropathy

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

(show all 7)
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
6
Capsaicin Approved 404-86-4 1548943
7 Liver Extracts

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
2 Near Infrared Light for the Treatment of Painful Peripheral Neuropathy Terminated NCT00125268 Phase 3
3 Safety Assessment of Intravitreal Mesenchymal Stem Cells for Acute Non Arteritic Anterior Ischemic Optic Neuropathy Not yet recruiting NCT03173638 Phase 2
4 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1 Intrathecal Delivery of scAAV9/JeT-GAN
5 The Significance of Glucose Intolerance in the Pathogenesis of Idiopathic Axonal Polyneuropathy Terminated NCT00228345 Phase 1
6 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Unknown status NCT01750710
7 Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy Completed NCT01847937
8 CHRONIC OPTIC NEUROPATHY IN MULTIPLE SCLEROSIS Completed NCT02543788
9 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 Use of QTRAC Technique to Measure Axonal Excitability in Anti-MAG Neuropathy Recruiting NCT02468596
11 The Effect of Bariatric Surgery on Peripheral Nerve Function and Axonal Regeneration Active, not recruiting NCT02218866
12 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, Liver, Brain, Testes, Tongue, Globus Pallidus, T Cells

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 375)
id Title Authors Year
1
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. ( 28834584 )
2017
2
Acute motor and sensory axonal neuropathy related to treatment with MEK inhibitors in a patient with advanced melanoma. ( 28872488 )
2017
3
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. ( 28355569 )
2017
4
Acute nutritional axonal neuropathy. ( 28556429 )
2017
5
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
6
Inflammatory Myopathy and Axonal Neuropathy in a Patient With Melanoma Following Pembrolizumab Treatment. ( 28498142 )
2017
7
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. ( 28144995 )
2017
8
Atypical Acute Motor Axonal Neuropathy with Cerebrospinal Pleocytosis Mimicking Myelitis. ( 28176505 )
2017
9
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
10
Acute axonal neuropathy subtype of Guillain BarrAc syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies. ( 28754297 )
2017
11
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. ( 28005197 )
2017
12
Atypical acute motor axonal neuropathy following alemtuzumab treatment in multiple sclerosis patient. ( 28567571 )
2017
13
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
14
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
15
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
16
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
17
Asymmetric Acute Motor Axonal Neuropathy With Unilateral Tongue Swelling Mimicking Stroke. ( 27801771 )
2016
18
Encephalopathy and Axonal Neuropathy Associated With Mycoplasma Pneumoniae Infection: Response to Intravenous Immunoglobulin Therapy. ( 28503607 )
2016
19
Severe Acute Axonal Neuropathy following Treatment with Arsenic Trioxide for Acute Promyelocytic Leukemia: a Case Report. ( 27158436 )
2016
20
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. ( 27040688 )
2016
21
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance. ( 27720712 )
2016
22
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. ( 27838833 )
2016
23
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
24
A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family. ( 27428488 )
2016
25
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
26
Acute Motor Axonal Neuropathy (Aman) With Motor Conduction Blocks In Childhood; Case Report. ( 27057191 )
2016
27
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
28
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27369358 )
2016
29
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. ( 27079523 )
2016
30
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
31
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature. ( 27199887 )
2016
32
C1q-targeted inhibition of the classical complement pathway prevents injury in a novel mouse model of acute motor axonal neuropathy. ( 26936605 )
2016
33
Finger drop sign in a child with acute motor and sensory axonal neuropathy form of Guillain-BarrAc syndrome. ( 27418363 )
2016
34
Poster 48 A Novel Presentation of Acute Motor Axonal Neuropathy: A Case Report. ( 27672816 )
2016
35
Severe axonal neuropathy is a late manifestation of SPG11. ( 27544499 )
2016
36
Unexpected Rapid Improvement and Neurogenic Stunned Myocardium in a Patient With Acute Motor Axonal Neuropathy: A Case Report and Literature Review. ( 26905914 )
2016
37
Presynaptic Deficits at Neuromuscular Junctions: A Specific Cause and Potential Target of Axonal Neuropathy in Type 2 Charcot-Marie-Tooth Disease. ( 27488627 )
2016
38
Axonal neuropathy with neuromyotonia: there is a HINT. ( 28007994 )
2016
39
1275: LOCKED IN: A PEDIATRIC CASE OF ACUTE MOTOR AND SENSORY AXONAL NEUROPATHY. ( 26570936 )
2015
40
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
41
Early-onset chronic axonal neuropathy, strokes, and hemolysis: Inherited CD59 deficiency. ( 25716358 )
2015
42
Elevated blood mercury levels in idiopathic axonal neuropathy. ( 25867721 )
2015
43
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. ( 27066569 )
2015
44
Overexpression of mutant HSP27 causes axonal neuropathy in mice. ( 26141737 )
2015
45
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. ( 25695920 )
2015
46
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress. ( 26675522 )
2015
47
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. ( 26460568 )
2015
48
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. ( 27066553 )
2015
49
Acute motor axonal neuropathy in a patient with prolonged CD4 depletion due to HIV: a local variant of macrophage activation syndrome? ( 25988079 )
2015
50
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. ( 25846562 )
2015

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

Cellular components related to Axonal Neuropathy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.32 ATAD3A C19orf12 DCAF8 GARS GDAP1 MFN2
2 mitochondrial nucleoid GO:0042645 9.13 ATAD3A POLG TWNK

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 8.96 GDAP1 MFN2
2 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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