MCID: AXN001
MIFTS: 38

Axonal Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Axonal Neuropathy

MalaCards integrated aliases for Axonal Neuropathy:

Name: Axonal Neuropathy 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:7319
NCIt 50 C27301
SNOMED-CT 68 60703000
UMLS 73 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). Affiliated tissues include skin, brain and testes, 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 243)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 34.5 ATAD3A DCAF8 GAN
2 giant axonal neuropathy 2 34.2 DCAF8 GAN
3 mitochondrial dna depletion syndrome 7 32.5 SLC25A4 TWNK
4 charcot-marie-tooth disease, demyelinating, type 4f 32.3 GDAP1 TDP1
5 charcot-marie-tooth disease, axonal, type 2b1 32.2 LMNA TRIM2
6 charcot-marie-tooth disease, type 4b2 32.2 GDAP1 TDP1
7 charcot-marie-tooth disease, type 4d 32.0 GDAP1 MFN2 TRPV4
8 charcot-marie-tooth disease, demyelinating, type 1a 31.8 GDAP1 MFN2 PMP22
9 charcot-marie-tooth disease, type 4a 31.7 GDAP1 TDP1
10 hereditary motor and sensory neuropathy, type iic 31.5 GDAP1 MFN2 SPG11 TRPV4
11 charcot-marie-tooth disease, axonal, type 2k 30.9 GDAP1 KIF5A MFN2 TRPV4
12 sensory peripheral neuropathy 30.0 GDAP1 MFN2 PMP22
13 3-methylglutaconic aciduria, type iii 29.9 ATAD3A C19orf12 MFN2
14 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 29.6 DCAF8 GDAP1 MFN2 PMP22
15 neuropathy 29.0 GAN GARS GDAP1 HINT1 MFN2 PMP22
16 peripheral nervous system disease 29.0 GAN GDAP1 MFN2 PMP22 POLG
17 tooth disease 29.0 GARS GDAP1 LMNA MFN2 PMP22 TRPV4
18 charcot-marie-tooth disease, axonal, type 2e 28.9 GAN GARS GDAP1 HINT1 LMNA MFN2
19 myopathy 27.8 LMNA MYH14 POLG SLC25A4 TWNK
20 charcot-marie-tooth disease 25.4 GAN GARS GDAP1 HINT1 LMNA MFN2
21 neuromyotonia and axonal neuropathy, autosomal recessive 12.5
22 giant axonal neuropathy 1, autosomal recessive 12.4
23 acute motor axonal neuropathy 12.3
24 giant axonal neuropathy 2, autosomal dominant 12.3
25 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12.3
26 spinocerebellar ataxia type 1 with axonal neuropathy 12.3
27 spinocerebellar ataxia with axonal neuropathy type 2 12.2
28 infantile axonal neuropathy 12.1
29 gars-associated axonal neuropathy 12.1
30 severe infantile axonal neuropathy 12.1
31 acute motor and sensory axonal neuropathy 12.1
32 moebius axonal neuropathy hypogonadism 12.0
33 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.9
34 microcephaly-complex motor and sensory axonal neuropathy syndrome 11.9
35 severe early-onset axonal neuropathy due to mfn2 deficiency 11.9
36 charcot-marie-tooth disease, demyelinating, type 1f 11.6
37 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.5
38 spinal muscular atrophy, distal, autosomal recessive, 1 11.3
39 spinocerebellar ataxia, autosomal recessive 1 11.2
40 spinocerebellar ataxia 4 11.1
41 spinocerebellar ataxia 46 11.1
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.0
43 neuropathy, hereditary sensory and autonomic, type ia 11.0
44 charcot-marie-tooth disease, x-linked dominant, 1 11.0
45 neuropathy, hereditary motor and sensory, type via 11.0
46 spastic paraplegia 56, autosomal recessive 11.0
47 neuropathy, hereditary motor and sensory, type vib 11.0
48 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 10.9
49 keratoderma palmoplantar spastic paralysis 10.9
50 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.9

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 SLC25A4 MYH14
3 Decreased viability GR00402-S-2 10.02 POLG ATAD3A SLC25A4 C19orf12 DCAF8 SPG11
4 no effect GR00402-S-1 9.62 SLC25A4 C19orf12 DCAF8 SPG11 GAN TDP1

MGI Mouse Phenotypes related to Axonal Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 PMP22 GAN GARS GDAP1 SPG11 KIF5A
2 cellular MP:0005384 10 PMP22 GAN POLG SLC25A4 GDAP1 SPG11
3 muscle MP:0005369 9.61 PMP22 GAN GARS POLG SLC25A4 LMNA
4 nervous system MP:0003631 9.47 POLG GARS GDAP1 SPG11 KIF5A TDP1

Drugs & Therapeutics for Axonal Neuropathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1 Intrathecal Delivery of scAAV9/JeT-GAN
2 Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy Completed NCT01847937
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 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:

41
Skin, Brain, Testes, Tongue, T Cells, Endothelial, Globus Pallidus

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 390)
# Title Authors Year
1
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
2
I^IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. ( 29861105 )
2018
3
Severe Acute Axonal Neuropathy Induced by Ciprofloxacin: A Case Report. ( 29928218 )
2018
4
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
5
Two novel mutations in the GAN gene causing giant axonal neuropathy. ( 29876741 )
2018
6
Structure and Functional Characterization of Human Histidine Triad Nucleotide-Binding Protein 1 Mutations Associated with Inherited Axonal Neuropathy with Neuromyotonia. ( 29787766 )
2018
7
Axonal neuropathy with unusual clinical course in young Snowshoe cats. ( 29869971 )
2018
8
Acute Motor Axonal Neuropathy in Association with Hepatitis E. ( 29479336 )
2018
9
Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy. ( 29766026 )
2018
10
Bilateral spinal anterior horn lesions in acute motor axonal neuropathy. ( 29853225 )
2018
11
Acute motor axonal neuropathy and transverse myelitis overlap: the importance of history taking. ( 29143293 )
2017
12
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
13
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
14
Acute nutritional axonal neuropathy. ( 28556429 )
2017
15
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. ( 28005197 )
2017
16
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. ( 28355569 )
2017
17
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. ( 28834584 )
2017
18
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. ( 28144995 )
2017
19
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
20
Atypical Electrophysiological Findings in a Patient with Acute Motor and Sensory Axonal Neuropathy. ( 29167658 )
2017
21
Acute axonal neuropathy subtype of Guillain BarrAc syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies. ( 28754297 )
2017
22
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
23
Atypical Acute Motor Axonal Neuropathy with Cerebrospinal Pleocytosis Mimicking Myelitis. ( 28176505 )
2017
24
Acute motor and sensory axonal neuropathy related to treatment with MEK inhibitors in a patient with advanced melanoma. ( 28872488 )
2017
25
Inflammatory Myopathy and Axonal Neuropathy in a Patient With Melanoma Following Pembrolizumab Treatment. ( 28498142 )
2017
26
Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q). ( 29278894 )
2017
27
Atypical acute motor axonal neuropathy following alemtuzumab treatment in multiple sclerosis patient. ( 28567571 )
2017
28
Prospective comparison of acute motor axonal neuropathy and acute inflammatory demyelinating polyradiculoneuropathy in 140 children with Guillain-BarrAc syndrome in India. ( 29053890 )
2017
29
Poster 48 A Novel Presentation of Acute Motor Axonal Neuropathy: A Case Report. ( 27672816 )
2016
30
Encephalopathy and Axonal Neuropathy Associated With Mycoplasma Pneumoniae Infection: Response to Intravenous Immunoglobulin Therapy. ( 28503607 )
2016
31
Axonal neuropathy with neuromyotonia: there is a HINT. ( 28007994 )
2016
32
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
33
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature. ( 27199887 )
2016
34
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
35
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. ( 27040688 )
2016
36
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
37
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. ( 27838833 )
2016
38
A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family. ( 27428488 )
2016
39
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
40
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27369358 )
2016
41
C1q-targeted inhibition of the classical complement pathway prevents injury in a novel mouse model of acute motor axonal neuropathy. ( 26936605 )
2016
42
Severe Acute Axonal Neuropathy following Treatment with Arsenic Trioxide for Acute Promyelocytic Leukemia: a Case Report. ( 27158436 )
2016
43
Finger drop sign in a child with acute motor and sensory axonal neuropathy form of Guillain-BarrAc syndrome. ( 27418363 )
2016
44
Acute Motor Axonal Neuropathy (Aman) With Motor Conduction Blocks In Childhood; Case Report. ( 27057191 )
2016
45
Severe axonal neuropathy is a late manifestation of SPG11. ( 27544499 )
2016
46
Presynaptic Deficits at Neuromuscular Junctions: A Specific Cause and Potential Target of Axonal Neuropathy in Type 2 Charcot-Marie-Tooth Disease. ( 27488627 )
2016
47
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance. ( 27720712 )
2016
48
Unexpected Rapid Improvement and Neurogenic Stunned Myocardium in a Patient With Acute Motor Axonal Neuropathy: A Case Report and Literature Review. ( 26905914 )
2016
49
Asymmetric Acute Motor Axonal Neuropathy With Unilateral Tongue Swelling Mimicking Stroke. ( 27801771 )
2016
50
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

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 9.46 GARS MYH14 NEFH SPG11
2 myelin sheath GO:0043209 9.43 MYH14 NEFH SLC25A4
3 mitochondrion GO:0005739 9.32 ATAD3A C19orf12 DCAF8 GARS GDAP1 MFN2
4 mitochondrial nucleoid GO:0042645 9.13 ATAD3A POLG TWNK

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 GDAP1 MFN2
2 synaptic vesicle transport GO:0048489 8.96 KIF5A SPG11
3 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 KIF5A MYH14 NEFH TRPV4

Sources for Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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