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 spinocerebellar ataxia type 1 with axonal neuropathy. An important gene associated with Axonal Neuropathy is GAN (Gigaxonin). The drugs Paclitaxel and Oxaliplatin 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 443)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 35.0 GAN DCAF8 ATAD3A
2 spinocerebellar ataxia type 1 with axonal neuropathy 34.6 TDP1 SETX
3 giant axonal neuropathy 2 34.3 GAN DCAF8 BAG3
4 charcot-marie-tooth disease, demyelinating, type 1f 33.8 NEFL GDAP1 DCAF8
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 33.6 TDP1 SETX HINT1
6 charcot-marie-tooth disease, axonal, type 2r 33.1 TRIM2 GDAP1
7 spinal muscular atrophy, distal, autosomal recessive, 1 33.0 SETX GARS1
8 charcot-marie-tooth disease, axonal, type 2b1 33.0 MFN2 GDAP1
9 charcot-marie-tooth disease, type 4b3 32.8 PMP22 GDAP1
10 hereditary motor and sensory neuropathy, type iic 32.8 TRPV4 NEFL MFN2 GDAP1 GARS1
11 charcot-marie-tooth disease, axonal, type 2d 32.8 NEFL MFN2 GDAP1 GARS1
12 charcot-marie-tooth disease, demyelinating, type 1b 32.7 PMP22 MFN2 GDAP1 GARS1
13 charcot-marie-tooth disease, demyelinating, type 1a 32.7 PMP22 NEFL MFN2 GDAP1
14 mitochondrial dna depletion syndrome 7 32.7 TWNK SLC25A4
15 charcot-marie-tooth disease, axonal, type 2f 32.6 NEFL MFN2 GDAP1 GARS1 DCAF8
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.6 TWNK SLC25A4
17 charcot-marie-tooth disease, axonal, type 2w 32.6 MFN2 GDAP1
18 charcot-marie-tooth disease, recessive intermediate a 32.6 MFN2 GDAP1
19 charcot-marie-tooth disease, axonal, type 2n 32.5 GDAP1 GARS1
20 charcot-marie-tooth disease, axonal, type 2t 32.5 TRIM2 GDAP1 GAN
21 charcot-marie-tooth disease, axonal, type 2b 32.5 NEFL GDAP1 GARS1
22 charcot-marie-tooth disease, axonal, type 2a1 32.5 MFN2 GDAP1 GARS1
23 charcot-marie-tooth disease, type 4a 32.5 MFN2 GDAP1 GARS1
24 charcot-marie-tooth disease, axonal, type 2j 32.5 NEFL GDAP1 GARS1
25 charcot-marie-tooth disease, axonal, type 2i 32.5 NEFL GDAP1 GARS1
26 charcot-marie-tooth disease, demyelinating, type 1d 32.4 PMP22 GDAP1 GARS1
27 charcot-marie-tooth disease, x-linked dominant, 1 32.3 PMP22 NEFL MFN2 GDAP1 GARS1
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 32.3 TWNK SLC25A4
29 charcot-marie-tooth disease, demyelinating, type 1c 32.2 PMP22 NEFL GDAP1 GARS1
30 charcot-marie-tooth disease, axonal, type 2b2 32.2 TRIM2 NEFL MFN2 GDAP1 GARS1
31 charcot-marie-tooth disease, axonal, type 2l 32.2 NEFL MFN2 GDAP1 GARS1 DCAF8
32 polyneuropathy 31.5 TWNK PMP22 MFN2 GDAP1
33 charcot-marie-tooth disease, axonal, type 2e 31.2 TRPV4 TRIM2 SPG11 PMP22 NEFL MFN2
34 sensory peripheral neuropathy 31.1 TRPV4 PMP22 MFN2 GDAP1
35 hereditary neuropathies 31.0 PMP22 MFN2
36 muscular atrophy 30.8 VRK1 TRPV4 SETX GARS1
37 charcot-marie-tooth hereditary neuropathy 30.8 TRPV4 SETX GARS1
38 autosomal dominant cerebellar ataxia 30.8 TWNK TDP1 SETX
39 3-methylglutaconic aciduria, type iii 30.7 TWNK SLC25A4 MFN2 GDAP1
40 neuronopathy, distal hereditary motor, type va 30.6 MFN2 GDAP1 GARS1
41 hereditary spastic paraplegia 30.6 SPG11 SETX GAN ATAD3A
42 motor neuron disease 30.6 TRPV4 SETX NEFL MFN2 GARS1
43 scapuloperoneal spinal muscular atrophy 30.5 TRPV4 GARS1
44 peripheral nervous system disease 30.4 TWNK TRPV4 TDP1 SETX PMP22 NEFL
45 myopathy, myofibrillar, 6 30.3 GAN DCAF8 BAG3
46 spastic paraplegia 55, autosomal recessive 30.3 TRIM2 SPG11 GDAP1
47 spinal muscular atrophy 30.3 VRK1 TRPV4 SETX PMP22 NEFL GARS1
48 tooth disease 29.9 TRPV4 TRIM2 SPG11 PMP22 NEFL MFN2
49 neuropathy, hereditary, with liability to pressure palsies 29.9 PMP22 NEFL MFN2 GDAP1 GARS1 GAN
50 neuropathy 29.9 TWNK TRPV4 TRIM2 TDP1 SPG11 SETX

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 GR00221-A-1 9.64 VRK1
2 Decreased viability GR00221-A-2 9.64 VRK1
3 Decreased viability GR00221-A-4 9.64 VRK1
4 Decreased viability GR00249-S 9.64 BAG3 GAN MYH14 TDP1 TRPV4
5 Decreased viability GR00301-A 9.64 VRK1
6 Decreased viability GR00381-A-1 9.64 MYH14 SLC25A4
7 Decreased viability GR00386-A-1 9.64 BAG3 GAN HINT1 MYH14 NEFL SETX
8 Decreased viability GR00402-S-2 9.64 ATAD3A GARS1 SETX

MGI Mouse Phenotypes related to Axonal Neuropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATAD3A BAG3 GAN GARS1 GDAP1 MFN2
2 cellular MP:0005384 10 ATAD3A BAG3 GAN GDAP1 HINT1 MFN2
3 muscle MP:0005369 9.61 ATAD3A BAG3 GAN GARS1 MFN2 MYH14
4 nervous system MP:0003631 9.36 GAN GARS1 GDAP1 MFN2 MYH14 NEFL

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
Paclitaxel Approved, Vet_approved 33069-62-4 36314
2
Oxaliplatin Approved, Investigational 61825-94-3 43805 6857599 5310940 9887054
3 Albumin-Bound Paclitaxel
4 Cola

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 1720)
# Title Authors PMID Year
1
Histologic evaluation of femoral nerve demyelinating and axonal neuropathy in Wistar rats due to alendronate intake: a randomised study. 61
32099834 2020
2
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. 61
32203252 2020
3
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons. 61
32437855 2020
4
A recessive Trim2 mutation causes an axonal neuropathy in mice. 61
32205255 2020
5
Early-onset cerebellar ataxia in a patient with CMT2A2. 61
32532879 2020
6
Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series. 61
32334137 2020
7
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. 61
32096284 2020
8
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy. 61
32522339 2020
9
Perisynaptic Schwann cells phagocytose nerve terminal debris in a mouse model of Guillain-Barré syndrome. 61
32250537 2020
10
Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population. 61
32156188 2020
11
[Severe polyneuropathy in primary Sjögren's syndrome : Sjögren's syndrome should be considered in patients with motor neuropathy]. 61
32474638 2020
12
Ischemic Monomelic Neuropathy: The Case for Reintroducing a Little-Known Term. 61
32362289 2020
13
Comparison of the Clinical Outcomes of Guillain Barre Syndrome Based on Electrophysiological Subtypes in Pakistani Children. 61
32537271 2020
14
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
15
A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres. 61
32444983 2020
16
Clinical features of Guillain-Barré syndrome patients with elevated serum creatine kinase levels. 61
32460711 2020
17
Expanding the spectrum of SPTLC1-related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome". 61
32470188 2020
18
Pathogenesis and Treatment of Pancreatic Cancer Related Pain. 61
32234867 2020
19
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. 61
31857255 2020
20
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation. 61
32326241 2020
21
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough. 61
32341455 2020
22
Electrophysiological and phenotypic profiles of taxane-induced neuropathy. 61
32291143 2020
23
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene. 61
32085962 2020
24
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. 61
32065591 2020
25
Concomitant Guillain-Barré Syndrome and Acute Transverse Myelitis in an Older Adult-A Case Report. 61
32285429 2020
26
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. 61
31468327 2020
27
Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene. 61
32259893 2020
28
Axonal variants of Guillain-Barré syndrome: an update. 61
32140865 2020
29
Hyper-reflexia in Guillain-Barré syndrome: systematic review. 61
31937584 2020
30
Not Always as It Seems: A Case of Ascending Paralysis. 61
31205060 2020
31
Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review. 61
32130681 2020
32
Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort. 61
31896291 2020
33
The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy. 61
31877298 2020
34
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype". 61
32171572 2020
35
Cardiovascular complications and its relationship with functional outcomes in Guillain-Barré syndrome. 61
31504947 2020
36
Neurophysiological features of peripheral nervous system involvement and immunological profile of patients with primary Sjögren syndrome. 61
32062606 2020
37
Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis. 61
31974930 2020
38
Anti-MAG IgM: differences in antibody tests and correlation with clinical findings. 61
31654362 2020
39
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening. 61
31831297 2020
40
A Case of Acute Motor Sensory Axonal Neuropathy: A Variant of Guillain-Barré Syndrome, with Possible Syndrome of Irreversible Lithium-Effectuated Neurotoxicity. 61
32373177 2020
41
Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy. 61
32158379 2020
42
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation. 61
31868880 2020
43
Anti-Ganglioside Antibody-Negative Miller Fisher and AMSAN Variant Guillain-Barré Overlap Syndrome. 61
32231550 2020
44
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. 61
31655922 2020
45
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. 61
31907599 2020
46
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
47
Polyneuropathy and the sural/radial sensory nerve action potential ratio in primary Sjögren's syndrome. 61
31661424 2020
48
Early electrophysiological findings in Fisher-Bickerstaff syndrome. 61
28888467 2020
49
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment 61
31944090 2020
50
[Mechanisms of changes in the spinal segmental level in patients with post-traumatic cervical myelopathy]. 61
32490612 2020

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 mitochondrion GO:0005739 9.56 TWNK SLC25A4 MFN2 GDAP1 GARS1 DCAF8
2 axon GO:0030424 9.55 SPG11 SETX NEFL MYH14 GARS1
3 growth cone GO:0030426 8.92 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 8.96 MFN2 GDAP1
2 mitochondrion organization GO:0007005 8.8 TWNK GDAP1 ATAD3A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 VRK1 TRPV4 TRIM2 TDP1 SPG11 SLC25A4
2 ATP binding GO:0005524 9.7 VRK1 TWNK TRPV4 SETX MYH14 GARS1
3 nucleotide binding GO:0000166 9.28 VRK1 TWNK TRPV4 SETX MYH14 MFN2

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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