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 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:7319
NCIt 49 C27301
SNOMED-CT 67 60703000
UMLS 71 C0270921

Summaries for Axonal Neuropathy

MalaCards based summary : Axonal Neuropathy is related to giant axonal neuropathy and giant axonal neuropathy 2. An important gene associated with Axonal Neuropathy is GAN (Gigaxonin). The drugs Oxaliplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and thyroid, and related phenotypes are Decreased viability and Decreased viability

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 460)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 35.0 GAN DCAF8 ATAD3A
2 giant axonal neuropathy 2 34.6 GAN DCAF8
3 spinocerebellar ataxia type 1 with axonal neuropathy 34.2 TDP1 SETX
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.6 TDP1 SETX HINT1
5 charcot-marie-tooth disease, axonal, type 2r 33.0 TRIM2 GDAP1
6 charcot-marie-tooth disease, axonal, type 2cc 32.9 TRPV4 NEFL MFN2
7 charcot-marie-tooth disease, axonal, type 2b1 32.9 MFN2 LMNA GDAP1
8 hereditary motor and sensory neuropathy, type iic 32.9 TRPV4 NEFL MFN2 GDAP1 GARS1
9 charcot-marie-tooth disease, axonal, type 2d 32.8 NEFL MFN2 GDAP1 GARS1
10 charcot-marie-tooth disease, axonal, type 2f 32.8 NEFL MFN2 GDAP1 GARS1
11 mitochondrial dna depletion syndrome 7 32.8 TWNK SLC25A4 POLG
12 charcot-marie-tooth disease, demyelinating, type 1b 32.8 PMP22 MFN2 GDAP1 GARS1
13 charcot-marie-tooth disease, demyelinating, type 1a 32.7 PMP22 NEFL MFN2 GDAP1
14 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.6 TWNK POLG
15 charcot-marie-tooth disease, recessive intermediate a 32.6 MFN2 GDAP1
16 charcot-marie-tooth disease, axonal, type 2a1 32.6 MFN2 GDAP1
17 charcot-marie-tooth disease, axonal, type 2t 32.5 TRIM2 GDAP1 GAN
18 charcot-marie-tooth disease, axonal, type 2n 32.5 MFN2 GDAP1 GARS1
19 charcot-marie-tooth disease, x-linked dominant, 1 32.5 PMP22 MFN2 GDAP1 GARS1
20 charcot-marie-tooth disease, axonal, type 2p 32.5 TRIM2 GDAP1
21 charcot-marie-tooth disease, axonal, type 2j 32.5 NEFL MFN2 GDAP1
22 charcot-marie-tooth disease, demyelinating, type 1d 32.4 PMP22 GDAP1
23 charcot-marie-tooth disease, axonal, type 2l 32.4 NEFL MFN2 GDAP1 GARS1
24 charcot-marie-tooth disease, axonal, type 2b 32.4 NEFL MFN2 GDAP1 GARS1
25 charcot-marie-tooth disease, demyelinating, type 1c 32.3 PMP22 NEFL GDAP1
26 charcot-marie-tooth disease, axonal, type 2b2 32.3 TRIM2 NEFL MFN2 GDAP1
27 charcot-marie-tooth disease, axonal, type 2i 32.3 PMP22 MFN2 GDAP1 GARS1
28 charcot-marie-tooth disease, type 4a 32.2 MFN2 GDAP1
29 charcot-marie-tooth disease, axonal, type 2e 31.4 TRPV4 TRIM2 SPG11 PMP22 NEFL MFN2
30 polyneuropathy 31.1 TWNK POLG PMP22 MFN2 GDAP1
31 hereditary neuropathies 30.9 PMP22 MFN2 LMNA
32 charcot-marie-tooth hereditary neuropathy 30.9 TRPV4 SETX GARS1
33 autosomal dominant cerebellar ataxia 30.8 TWNK TDP1 SETX POLG
34 hereditary spastic paraplegia 30.7 SPG11 SETX GAN ATAD3A
35 sensory peripheral neuropathy 30.6 TRPV4 POLG PMP22 MFN2 GDAP1 GARS1
36 spinal muscular atrophy 30.6 TRPV4 SETX PMP22 NEFL LMNA GARS1
37 kearns-sayre syndrome 30.5 TWNK SLC25A4 POLG MFN2
38 3-methylglutaconic aciduria, type iii 30.4 TWNK SLC25A4 POLG MFN2 GDAP1
39 spastic paraplegia 55, autosomal recessive 30.3 TRIM2 SPG11 GDAP1
40 hereditary ataxia 30.1 TWNK TDP1 SETX
41 mitochondrial disorders 30.0 TWNK SLC25A4 POLG
42 neuropathy, hereditary sensory and autonomic, type iia 30.0 SETX POLG MFN2 GDAP1 GAN
43 mitochondrial myopathy 30.0 TWNK SLC25A4 POLG MFN2
44 peripheral nervous system disease 29.9 TWNK TRPV4 TDP1 POLG PMP22 NEFL
45 neuropathy, hereditary, with liability to pressure palsies 29.9 PMP22 NEFL MFN2 GDAP1 GARS1 GAN
46 tooth disease 29.9 TRPV4 TRIM2 SPG11 PMP22 NEFL MFN2
47 neuropathy 29.7 TWNK TRPV4 TRIM2 TDP1 SETX POLG
48 charcot-marie-tooth disease 29.1 TRPV4 TRIM2 SPG11 SETX POLG PMP22
49 neuromyotonia and axonal neuropathy, autosomal recessive 12.8
50 giant axonal neuropathy 1, autosomal recessive 12.7

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



Diseases related to Axonal Neuropathy

Symptoms & Phenotypes for Axonal Neuropathy

GenomeRNAi Phenotypes related to Axonal Neuropathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.02 LMNA
2 Decreased viability GR00381-A-1 10.02 MYH14 SLC25A4
3 Decreased viability GR00402-S-2 10.02 ATAD3A COA7 DCAF8 GAN GARS1 GDAP1
4 no effect GR00402-S-1 9.62 ATAD3A COA7 DCAF8 GAN GARS1 GDAP1

MGI Mouse Phenotypes related to Axonal Neuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATAD3A GAN GARS1 GDAP1 LMNA MFN2
2 cellular MP:0005384 10 ATAD3A GAN GDAP1 HINT1 LMNA MFN2
3 muscle MP:0005369 9.65 ATAD3A GAN GARS1 LMNA MFN2 MYH14
4 nervous system MP:0003631 9.44 GAN GARS1 GDAP1 LMNA MFN2 MYH14

Drugs & Therapeutics for Axonal Neuropathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational 61825-94-3 5310940 9887054 6857599 43805
2
Paclitaxel Approved, Vet_approved 33069-62-4 36314
3 Cola
4 Albumin-Bound Paclitaxel

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study of Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1 Intrathecal Delivery of scAAV9/JeT-GAN
2 An Observational STudy to Evaluate the EFfectiveness of OnLife® in Improving Chemotherapy-induced peripherAl NeurOpathy in Patients With Colon or Breast Cancer After End of Adjuvant Therapy Completed NCT03065478
3 Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy Completed NCT01847937
4 Early Prediction of Respiratory and Autonomic Complications of GBS Using Neuromuscular Ultrasound Recruiting NCT04166357
5 Clinical Study of Giant Axonal Neuropathy 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:

40
Brain, Skin, Thyroid, T Cells, Breast, Testes, Spinal Cord

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 1686)
# Title Authors PMID Year
1
The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy. 61
31877298 2020
2
Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort. 61
31896291 2020
3
Anti-MAG IgM: differences in antibody tests and correlation with clinical findings. 61
31654362 2020
4
Cardiovascular complications and its relationship with functional outcomes in Guillain-Barré syndrome. 61
31504947 2020
5
Polyneuropathy and the sural/radial sensory nerve action potential ratio in primary Sjögren's syndrome. 61
31661424 2020
6
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment 61
31944090 2020
7
Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis. 61
31974930 2020
8
Hyper-reflexia in Guillain-Barré syndrome: systematic review. 61
31937584 2020
9
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
10
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. 61
31907599 2020
11
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation. 61
31868880 2020
12
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
13
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. 61
31655922 2020
14
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening. 61
31831297 2020
15
Fatal Acute Motor Axonal Neuropathy Induced by Nivolumab: A Case Report and Literature Review. 61
31471269 2019
16
Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy. 61
31503551 2019
17
Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype. 61
31787464 2019
18
Yield of next-generation neuropathy gene panels in axonal neuropathies. 61
31701603 2019
19
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy. 61
31844624 2019
20
Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness. 61
31523922 2019
21
Prognostic factors for the sequelae and severity of Guillain-Barré syndrome in children. 61
31531862 2019
22
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene. 61
31596031 2019
23
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. 61
31857255 2019
24
Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy. 61
31712675 2019
25
Oxaliplatin-induced neuropathy: the preventive effect of a new super-oxide dismutase modulator. 61
31741707 2019
26
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. 61
31560180 2019
27
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy. 61
31723605 2019
28
Split Hand Syndrome in a Family with GARS-Associated Axonal Neuropathy. 61
31591847 2019
29
Intractable axonal neuropathy with multifocal peripheral nerve swelling in neuromyelitis optica spectrum disorders: A case report. 61
31279231 2019
30
Platinum-induced peripheral neurotoxicity: From pathogenesis to treatment. 61
31647151 2019
31
Acute motor-sensory axonal neuropathy associated with systemic lupus erythematosus. 61
31656439 2019
32
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1. 61
31271761 2019
33
The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease. 61
31088288 2019
34
[An elderly case of Guillain-Barré syndrome with anti-GT1b antibodies]. 61
31474642 2019
35
Rapid Recovery With Plasma Exchange in Acute Motor Axonal Neuropathy With Reversible Conduction Failure. 61
31453853 2019
36
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. 61
31393079 2019
37
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. 61
30996334 2019
38
Role of Pregabalin in Treatment of Polyneuropathy in Multiple Myeloma Patients: A Retrospective Study. 61
31361668 2019
39
Spinocerebellar ataxia type 2-neuronopathy or neuropathy? 61
31228263 2019
40
Spinocerebellar ataxia with axonal neuropathy type 1 revisited. 61
31182267 2019
41
[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy]. 61
31400136 2019
42
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2019
43
[Guillain-Barre syndrome complicated on post-operation with renal carcinoma and meningioma: a case report]. 61
31420639 2019
44
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 61
31256876 2019
45
A rare case of Miller Fisher variant of Guillain-Barré Syndrome (GBS) induced by a checkpoint inhibitor. 61
31413049 2019
46
Electrophysiological findings in immune checkpoint inhibitor-related peripheral neuropathy. 61
31103410 2019
47
A Rare Case of Acute Transverse Myelitis (ATM) and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Overlap. 61
31632877 2019
48
Tubercular Meningitis with Acute Inflammatory Demyelinating Polyneuropathy-Trigger or Chance. 61
31595132 2019
49
Role of IV Immunoglobulin in Indian Children With Guillain-Barré Syndrome. 61
30985608 2019
50
Beta-thalassemia major complicated by intracranial hemorrhage and critical illness polyneuropathy. 61
31317877 2019

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:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.65 SPG11 SETX NEFL MYH14 GARS1
2 mitochondrial nucleoid GO:0042645 9.33 TWNK POLG ATAD3A
3 mitochondrion GO:0005739 9.28 TWNK SLC25A4 POLG MFN2 GDAP1 GARS1
4 growth cone GO:0030426 9.26 TRPV4 SETX NEFL MYH14

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 9.16 MFN2 GDAP1
2 mitochondrion organization GO:0007005 9.13 TWNK GDAP1 ATAD3A
3 mitochondrial DNA replication GO:0006264 8.62 TWNK POLG

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 TRPV4 TRIM2 TDP1 SPG11 SLC25A4 SETX

Sources for Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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