MCID: AXN001
MIFTS: 37

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 skin, brain and breast, 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 457)
# 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 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.6 TDP1 SETX HINT1
4 charcot-marie-tooth disease, axonal, type 2r 33.0 TRIM2 GDAP1
5 charcot-marie-tooth disease, axonal, type 2cc 32.9 TRPV4 NEFL MFN2
6 charcot-marie-tooth disease, axonal, type 2b1 32.9 MFN2 LMNA GDAP1
7 hereditary motor and sensory neuropathy, type iic 32.9 TRPV4 NEFL MFN2 GDAP1 GARS1
8 charcot-marie-tooth disease, axonal, type 2d 32.8 NEFL MFN2 GDAP1 GARS1
9 charcot-marie-tooth disease, axonal, type 2f 32.8 NEFL MFN2 GDAP1 GARS1
10 mitochondrial dna depletion syndrome 7 32.8 TWNK SLC25A4 POLG
11 charcot-marie-tooth disease, demyelinating, type 1b 32.8 PMP22 MFN2 GDAP1 GARS1
12 charcot-marie-tooth disease, demyelinating, type 1a 32.7 PMP22 NEFL MFN2 GDAP1
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.6 TWNK POLG
14 charcot-marie-tooth disease, recessive intermediate a 32.6 MFN2 GDAP1
15 charcot-marie-tooth disease, axonal, type 2a1 32.5 MFN2 GDAP1
16 charcot-marie-tooth disease, axonal, type 2n 32.5 MFN2 GDAP1 GARS1
17 charcot-marie-tooth disease, axonal, type 2t 32.5 TRIM2 GDAP1 GAN
18 charcot-marie-tooth disease, x-linked dominant, 1 32.5 PMP22 MFN2 GDAP1 GARS1
19 charcot-marie-tooth disease, axonal, type 2j 32.5 NEFL MFN2 GDAP1
20 charcot-marie-tooth disease, axonal, type 2p 32.5 TRIM2 GDAP1
21 charcot-marie-tooth disease, demyelinating, type 1d 32.4 PMP22 GDAP1
22 charcot-marie-tooth disease, axonal, type 2l 32.4 NEFL MFN2 GDAP1 GARS1
23 charcot-marie-tooth disease, axonal, type 2b 32.4 NEFL MFN2 GDAP1 GARS1
24 charcot-marie-tooth disease, demyelinating, type 1c 32.3 PMP22 NEFL GDAP1
25 charcot-marie-tooth disease, axonal, type 2b2 32.3 TRIM2 NEFL MFN2 GDAP1
26 charcot-marie-tooth disease, axonal, type 2i 32.3 PMP22 MFN2 GDAP1 GARS1
27 charcot-marie-tooth disease, type 4a 32.2 MFN2 GDAP1
28 charcot-marie-tooth disease, axonal, type 2e 31.4 TRPV4 TRIM2 SPG11 PMP22 NEFL MFN2
29 polyneuropathy 31.1 TWNK POLG PMP22 MFN2 GDAP1
30 muscular atrophy 31.1 TRPV4 SETX LMNA GARS1
31 spinal muscular atrophy 31.0 TRPV4 SETX LMNA GARS1
32 hereditary neuropathies 30.9 PMP22 MFN2 LMNA
33 charcot-marie-tooth hereditary neuropathy 30.9 SETX GARS1
34 autosomal dominant cerebellar ataxia 30.7 TWNK TDP1 SETX POLG
35 hereditary spastic paraplegia 30.6 SPG11 SETX GAN ATAD3A
36 sensory peripheral neuropathy 30.6 TRPV4 POLG PMP22 MFN2 GDAP1 GARS1
37 kearns-sayre syndrome 30.5 TWNK SLC25A4 POLG MFN2
38 spastic paraplegia 55, autosomal recessive 30.4 TRIM2 SPG11 GDAP1
39 3-methylglutaconic aciduria, type iii 30.3 TWNK SLC25A4 POLG MFN2 GDAP1
40 mitochondrial disorders 30.1 TWNK SLC25A4 POLG
41 hereditary ataxia 30.0 TWNK TDP1 SETX
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
Skin, Brain, Breast, Testes, Spinal Cord, Bone, Colon

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 1675)
# Title Authors PMID Year
1
Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness. 61
31523922 2019
2
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2019
3
Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy. 61
31844624 2019
4
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene. 61
31596031 2019
5
Prognostic factors for the sequelae and severity of Guillain-Barré syndrome in children. 61
31531862 2019
6
Yield of next-generation neuropathy gene panels in axonal neuropathies. 61
31701603 2019
7
Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy. 61
31503551 2019
8
Fatal Acute Motor Axonal Neuropathy Induced by Nivolumab: A Case Report and Literature Review. 61
31471269 2019
9
Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype. 61
31787464 2019
10
Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy. 61
31712675 2019
11
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy. 61
31723605 2019
12
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening. 61
31831297 2019
13
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. 61
31560180 2019
14
Oxaliplatin-induced neuropathy: the preventive effect of a new super-oxide dismutase modulator. 61
31741707 2019
15
Acute motor-sensory axonal neuropathy associated with systemic lupus erythematosus. 61
31656439 2019
16
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. 61
31655922 2019
17
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1. 61
31271761 2019
18
Platinum-induced peripheral neurotoxicity: From pathogenesis to treatment. 61
31647151 2019
19
Intractable axonal neuropathy with multifocal peripheral nerve swelling in neuromyelitis optica spectrum disorders: A case report. 61
31279231 2019
20
Split Hand Syndrome in a Family with GARS-Associated Axonal Neuropathy. 61
31591847 2019
21
Anti-MAG IgM: differences in antibody tests and correlation with clinical findings. 61
31654362 2019
22
Polyneuropathy and the sural/radial sensory nerve action potential ratio in primary Sjögren's syndrome. 61
31661424 2019
23
[An elderly case of Guillain-Barré syndrome with anti-GT1b antibodies]. 61
31474642 2019
24
Rapid Recovery With Plasma Exchange in Acute Motor Axonal Neuropathy With Reversible Conduction Failure. 61
31453853 2019
25
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. 61
31393079 2019
26
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. 61
30996334 2019
27
Role of Pregabalin in Treatment of Polyneuropathy in Multiple Myeloma Patients: A Retrospective Study. 61
31361668 2019
28
Spinocerebellar ataxia type 2-neuronopathy or neuropathy? 61
31228263 2019
29
Spinocerebellar ataxia with axonal neuropathy type 1 revisited. 61
31182267 2019
30
The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease. 61
31088288 2019
31
[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy]. 61
31400136 2019
32
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2019
33
[Guillain-Barre syndrome complicated on post-operation with renal carcinoma and meningioma: a case report]. 61
31420639 2019
34
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 61
31256876 2019
35
Electrophysiological findings in immune checkpoint inhibitor-related peripheral neuropathy. 61
31103410 2019
36
Cardiovascular complications and its relationship with functional outcomes in Guillain-Barré Syndrome. 61
31504947 2019
37
A rare case of Miller Fisher variant of Guillain-Barré Syndrome (GBS) induced by a checkpoint inhibitor. 61
31413049 2019
38
A Rare Case of Acute Transverse Myelitis (ATM) and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Overlap. 61
31632877 2019
39
Tubercular Meningitis with Acute Inflammatory Demyelinating Polyneuropathy-Trigger or Chance. 61
31595132 2019
40
Beta-thalassemia major complicated by intracranial hemorrhage and critical illness polyneuropathy. 61
31317877 2019
41
Severe Guillain-Barré syndrome associated with chronic active hepatitis C and mixed cryoglobulinemia: a case report. 61
31315560 2019
42
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy. 61
31079202 2019
43
Role of IV Immunoglobulin in Indian Children With Guillain-Barré Syndrome. 61
30985608 2019
44
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia. 61
31167410 2019
45
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 61
30866134 2019
46
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 61
30843326 2019
47
POLG mutations presenting as Charcot-Marie-Tooth disease. 61
30843307 2019
48
Clinical features and prognosis of patients with Guillain-Barré and acute transverse myelitis overlap syndrome. 61
31039494 2019
49
Acute motor axonal neuropathy form of the Guillain Barre syndrome two months after bariatric surgery. 61
31133339 2019
50
SCN11A variant as possible pain generator in sensory axonal neuropathy. 61
30623267 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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