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 72

Classifications:



External Ids:

Disease Ontology 12 DOID:7319
NCIt 50 C27301
SNOMED-CT 68 60703000
UMLS 72 C0270921

Summaries for Axonal Neuropathy

MalaCards based summary : Axonal Neuropathy is related to giant axonal neuropathy 2 and giant axonal neuropathy. 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 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 411)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2 34.6 GAN DCAF8
2 giant axonal neuropathy 33.6 NEFL NEFH MYH14 GAN DCAF8
3 charcot-marie-tooth disease, demyelinating, type 1f 33.5 PMP22 NEFL
4 hereditary motor and sensory neuropathy, type iic 33.0 TRPV4 MFN2 GDAP1
5 charcot-marie-tooth disease, axonal, type 2b1 32.8 TRIM2 LMNA
6 mitochondrial dna depletion syndrome 7 32.6 TWNK SLC25A4
7 charcot-marie-tooth disease, demyelinating, type 4f 32.5 TDP1 GDAP1
8 charcot-marie-tooth disease, demyelinating, type 1a 32.5 PMP22 MFN2 GDAP1
9 charcot-marie-tooth disease, axonal, type 2k 32.5 TRPV4 MFN2 GDAP1
10 charcot-marie-tooth disease, type 4b2 32.4 TDP1 GDAP1
11 charcot-marie-tooth disease, type 4d 32.3 TRPV4 MFN2 GDAP1
12 charcot-marie-tooth disease, type 4a 32.2 TDP1 GDAP1
13 charcot-marie-tooth disease, demyelinating, type 1c 32.0 PMP22 NEFL
14 sensory peripheral neuropathy 30.8 PMP22 MFN2 GDAP1
15 hereditary ataxia 30.4 TWNK TDP1 SETX
16 polyneuropathy 30.3 POLG PMP22 GDAP1
17 charcot-marie-tooth disease, axonal, type 2e 30.2 TRIM2 PMP22 NEFL NEFH MFN2 LMNA
18 neuropathy, hereditary, with liability to pressure palsies 30.0 PMP22 MFN2 GDAP1
19 tooth disease 29.6 TRPV4 PMP22 NEFL MFN2 LMNA GDAP1
20 neuropathy 29.6 TWNK TDP1 POLG PMP22 MFN2 HINT1
21 peripheral nervous system disease 29.5 POLG PMP22 NEFL MFN2 GDAP1 GAN
22 kearns-sayre syndrome 29.5 TWNK SLC25A4 POLG
23 charcot-marie-tooth disease 26.9 TRPV4 TRIM2 SETX POLG PMP22 NEFL
24 neuromyotonia and axonal neuropathy, autosomal recessive 12.8
25 giant axonal neuropathy 1, autosomal recessive 12.7
26 spinocerebellar ataxia type 1 with axonal neuropathy 12.7
27 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 12.6
28 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 12.6
29 acute motor axonal neuropathy 12.6
30 giant axonal neuropathy 2, autosomal dominant 12.6
31 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 12.5
32 severe infantile axonal neuropathy 12.4
33 acute motor and sensory axonal neuropathy 12.4
34 gars1-associated axonal neuropathy 12.4
35 infantile axonal neuropathy 12.4
36 congenital axonal neuropathy with encephalopathy 12.4
37 moebius axonal neuropathy hypogonadism 12.3
38 obsolete: infantile axonal neuropathy 12.2
39 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.2
40 microcephaly-complex motor and sensory axonal neuropathy syndrome 12.2
41 severe early-onset axonal neuropathy due to mfn2 deficiency 12.2
42 obsolete: lissencephaly-demyelinating axonal neuropathy syndrome 12.2
43 spinal muscular atrophy, distal, autosomal recessive, 1 12.0
44 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.9
45 harel-yoon syndrome 11.8
46 guillain-barre syndrome 11.7
47 spinocerebellar ataxia 4 11.7
48 neuropathy, hereditary motor and sensory, type via, with optic atrophy 11.6
49 charcot-marie-tooth disease, demyelinating, type 1b 11.5
50 charcot-marie-tooth disease, axonal, type 2d 11.5

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ATAD3A GAN GDAP1 LMNA MFN2 NEFH
2 cellular MP:0005384 10 ATAD3A GAN GDAP1 HINT1 LMNA MFN2
3 muscle MP:0005369 9.61 ATAD3A GAN LMNA MFN2 MYH14 PMP22
4 nervous system MP:0003631 9.4 GAN GDAP1 LMNA MFN2 MYH14 NEFH

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 43805 6857599
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 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:

41
Skin, Brain, Breast, Testes, Spinal Cord, Colon, Bone

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 1645)
# Title Authors PMID Year
1
Spinocerebellar ataxia with axonal neuropathy type 1 revisited. 38
31182267 2019
2
Spinocerebellar ataxia type 2-neuronopathy or neuropathy? 38
31228263 2019
3
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. 38
30996334 2019
4
The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease. 38
31088288 2019
5
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 38
31256876 2019
6
[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy]. 38
31400136 2019
7
[Guillain-Barre syndrome complicated on post-operation with renal carcinoma and meningioma: a case report]. 38
31420639 2019
8
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. 38
31393079 2019
9
A rare case of Miller Fisher variant of Guillain-Barré Syndrome (GBS) induced by a checkpoint inhibitor. 38
31413049 2019
10
Electrophysiological findings in immune checkpoint inhibitor-related peripheral neuropathy. 38
31103410 2019
11
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1. 38
31271761 2019
12
Beta-thalassemia major complicated by intracranial hemorrhage and critical illness polyneuropathy. 38
31317877 2019
13
Role of IV Immunoglobulin in Indian Children With Guillain-Barré Syndrome. 38
30985608 2019
14
Severe Guillain-Barré syndrome associated with chronic active hepatitis C and mixed cryoglobulinemia: a case report. 38
31315560 2019
15
Role of Pregabalin in Treatment of Polyneuropathy in Multiple Myeloma Patients: A Retrospective Study. 38
31361668 2019
16
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy. 38
31079202 2019
17
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia. 38
31167410 2019
18
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene. 38
30843326 2019
19
Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias. 38
30866134 2019
20
POLG mutations presenting as Charcot-Marie-Tooth disease. 38
30843307 2019
21
Clinical features and prognosis of patients with Guillain-Barré and acute transverse myelitis overlap syndrome. 38
31039494 2019
22
Acute motor axonal neuropathy form of the Guillain Barre syndrome two months after bariatric surgery. 38
31133339 2019
23
SCN11A variant as possible pain generator in sensory axonal neuropathy. 38
30623267 2019
24
Intractable axonal neuropathy with multifocal peripheral nerve swelling in neuromyelitis optica spectrum disorders: A case report. 38
31279231 2019
25
Guillain-Barre syndrome in North Indian children: Clinical and serial electrophysiological features. 38
31347543 2019
26
Role of Anti-ganglioside Antibodies in the Diagnosis of Guillain-Barré Syndrome as an Alternate Investigation. 38
31312551 2019
27
Guillain Barre syndrome with pulmonary tuberculosis: A case series from a tertiary care hospital. 38
31198762 2019
28
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family. 38
30992180 2019
29
[Classification of pregnancy complicating Guillain-Barré syndrome]. 38
31137128 2019
30
Miller Fisher syndrome developing as a parainfectious manifestation of dengue fever: a case report and review of the literature. 38
31043165 2019
31
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 38
30901567 2019
32
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. 38
30340910 2019
33
How Different is AMAN from AIDP in Childhood GBS? A Prospective Study from North India. 38
30637680 2019
34
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. 38
31119193 2019
35
Toll-like receptor-4 299Gly allele is associated with Guillain-Barré syndrome in Bangladesh. 38
31019995 2019
36
A 30-Year-Old Man with Acute Motor Axonal Neuropathy Subtype of Guillain-Barré Syndrome Having Hepatitis A Virus Infection. 38
31380008 2019
37
Atypical Clinical Presentations of Pediatric Acute Immune-Mediated Polyneuropathy. 38
30674221 2019
38
Fatal, paraparetic acute motor axonal neuropathy, early complicating chemotherapy with nab-paclitaxel. 38
30589645 2019
39
Clinical and Electrodiagnostic Features Of Nontraumatic Sciatic Neuropathy. 38
30414322 2019
40
Autoimmunity and cytokines in Guillain-Barré syndrome revisited: review of pathomechanisms with an eye on therapeutic options. 38
31074417 2019
41
A rare mimic of acute stroke: rapidly progressing Miller-Fisher Syndrome to acute motor and sensory axonal neuropathy variant of Guillain-Barre Syndrome. 38
30936342 2019
42
Characteristic clinical and ultrastructural findings in nesprinopathies. 38
30626539 2019
43
Pulse-steroid therapy in a 37-year-old man with acute motor and sensory axonal neuropathy: A case report. 38
30899482 2019
44
Increased incidence of axonal Guillain-Barré syndrome in La Spezia area of Italy: A 13-year follow-up study. 38
30421471 2019
45
Acute flaccid myelitis caused by enterovirus D68: Case definitions for use in clinical practice. 38
30670331 2019
46
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia. 38
30006059 2019
47
A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy. 38
30847374 2019
48
Acute Motor Axonal Polyneuropathy Following Mumps Infection in a 9-Year-Old Girl. 38
29669036 2019
49
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens. 38
30709364 2019
50
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. 38
30642740 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 mitochondrion GO:0005739 9.86 TWNK SLC25A4 POLG MFN2 GDAP1 DCAF8
2 axon GO:0030424 9.67 SETX NEFL NEFH MYH14
3 mitochondrial nucleoid GO:0042645 9.33 TWNK POLG ATAD3A
4 neurofilament GO:0005883 9.32 NEFL NEFH
5 growth cone GO:0030426 9.26 TRPV4 SETX NEFL MYH14
6 postsynaptic intermediate filament cytoskeleton GO:0099160 8.62 NEFL NEFH

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.54 TWNK GDAP1 ATAD3A
2 mitochondrial fusion GO:0008053 9.43 MFN2 GDAP1
3 axon development GO:0061564 9.4 NEFL NEFH
4 mitochondrial DNA replication GO:0006264 9.32 TWNK POLG
5 neurofilament cytoskeleton organization GO:0060052 9.26 NEFL NEFH
6 intermediate filament bundle assembly GO:0045110 9.16 NEFL NEFH
7 postsynaptic intermediate filament cytoskeleton organization GO:0099185 8.96 NEFL NEFH
8 neurofilament bundle assembly GO:0033693 8.62 NEFL NEFH

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

# Name GO ID Score Top Affiliating Genes
1 DNA helicase activity GO:0003678 8.96 TWNK SETX
2 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 8.62 NEFL NEFH

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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