MCID: AXN001
MIFTS: 40

Axonal Neuropathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Axonal Neuropathy

MalaCards integrated aliases for Axonal Neuropathy:

Name: Axonal Neuropathy 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:7319
NCIt 51 C27301
SNOMED-CT 69 60703000
UMLS 74 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), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, brain and testes, and related phenotypes are no effect and behavior/neurological

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 237)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2 33.8 DCAF8 GAN
2 giant axonal neuropathy 33.6 DCAF8 GAN MYH14 NEFH NEFL
3 charcot-marie-tooth disease, demyelinating, type 1f 32.9 NEFL PMP22
4 mitochondrial dna depletion syndrome 7 32.4 SLC25A4 TWNK
5 charcot-marie-tooth disease, demyelinating, type 4f 32.0 GDAP1 TDP1
6 charcot-marie-tooth disease, axonal, type 2b1 32.0 LMNA TRIM2
7 charcot-marie-tooth disease, type 4b2 31.9 GDAP1 TDP1
8 charcot-marie-tooth disease, type 4d 31.9 GDAP1 MFN2 TRPV4
9 charcot-marie-tooth disease, type 4a 31.9 GDAP1 TDP1
10 charcot-marie-tooth disease, axonal, type 2d 31.9 GARS PMP22
11 charcot-marie-tooth disease, demyelinating, type 1c 31.8 NEFL PMP22
12 charcot-marie-tooth disease, demyelinating, type 1a 31.8 GDAP1 MFN2 PMP22
13 hereditary motor and sensory neuropathy, type iic 31.7 GDAP1 MFN2 SPG11 TRPV4
14 charcot-marie-tooth disease, axonal, type 2k 31.7 GDAP1 KIF5A MFN2 TRPV4
15 neuropathy 30.2 GAN GARS GDAP1 HINT1 MFN2 PMP22
16 charcot-marie-tooth disease, axonal, type 2e 30.2 GAN GARS GDAP1 HINT1 LMNA MFN2
17 sensory peripheral neuropathy 29.9 GDAP1 MFN2 PMP22
18 polyneuropathy 29.7 GDAP1 PMP22 POLG
19 hereditary spastic paraplegia 29.6 ATAD3A GAN KIF5A SPG11
20 tooth disease 29.2 GARS GDAP1 LMNA MFN2 NEFL PMP22
21 peripheral nervous system disease 29.0 GAN GARS GDAP1 MFN2 NEFL PMP22
22 charcot-marie-tooth disease 27.2 GAN GARS GDAP1 HINT1 LMNA MFN2
23 neuromyotonia and axonal neuropathy, autosomal recessive 12.7
24 giant axonal neuropathy 1, autosomal recessive 12.6
25 spinocerebellar ataxia type 1 with axonal neuropathy 12.6
26 acute motor axonal neuropathy 12.5
27 giant axonal neuropathy 2, autosomal dominant 12.5
28 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12.4
29 infantile axonal neuropathy 12.3
30 gars-associated axonal neuropathy 12.3
31 severe infantile axonal neuropathy 12.3
32 acute motor and sensory axonal neuropathy 12.2
33 moebius axonal neuropathy hypogonadism 12.1
34 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.1
35 microcephaly-complex motor and sensory axonal neuropathy syndrome 12.1
36 severe early-onset axonal neuropathy due to mfn2 deficiency 12.1
37 spinocerebellar ataxia, autosomal recessive 1 12.0
38 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.7
39 spinal muscular atrophy, distal, autosomal recessive, 1 11.5
40 spinocerebellar ataxia 4 11.2
41 spinocerebellar ataxia 46 11.2
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.2
43 neuropathy, hereditary sensory and autonomic, type ia 11.2
44 charcot-marie-tooth disease, x-linked dominant, 1 11.2
45 neuropathy, hereditary motor and sensory, type via 11.2
46 spastic paraplegia 56, autosomal recessive 11.2
47 neuropathy, hereditary motor and sensory, type vib 11.2
48 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 11.1
49 keratoderma palmoplantar spastic paralysis 11.1
50 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 11.1

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ATAD3A DCAF8 GAN GARS GDAP1 HINT1

MGI Mouse Phenotypes related to Axonal Neuropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ATAD3A GAN GARS GDAP1 KIF5A LMNA
2 cellular MP:0005384 10.13 ATAD3A GAN GDAP1 HINT1 KIF5A LMNA
3 muscle MP:0005369 9.85 ATAD3A GAN GARS LMNA MFN2 MYH14
4 nervous system MP:0003631 9.83 GAN GARS GDAP1 KIF5A LMNA MFN2
5 normal MP:0002873 9.23 GARS HINT1 KIF5A LMNA MFN2 MYH14

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:

42
Skin, Brain, Testes, Tongue, Bone, Heart, Bone Marrow

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 408)
# Title Authors Year
1
An overlapping case of Bickerstaff brainstem encephalitis and acute motor axonal neuropathy variant of Guillain-Barré syndrome associated with systemic lupus erythematosus. ( 30444497 )
2019
2
SCN11A variant as possible pain generator in sensory axonal neuropathy. ( 30623267 )
2019
3
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens. ( 30709364 )
2019
4
Pulse-steroid therapy in a 37-year-old man with acute motor and sensory axonal neuropathy: A case report. ( 30899482 )
2019
5
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
6
I^IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. ( 29861105 )
2018
7
Severe Acute Axonal Neuropathy Induced by Ciprofloxacin: A Case Report. ( 29928218 )
2018
8
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
9
Two novel mutations in the GAN gene causing giant axonal neuropathy. ( 29876741 )
2018
10
Structure and Functional Characterization of Human Histidine Triad Nucleotide-Binding Protein 1 Mutations Associated with Inherited Axonal Neuropathy with Neuromyotonia. ( 29787766 )
2018
11
Axonal neuropathy with unusual clinical course in young Snowshoe cats. ( 29869971 )
2018
12
Acute Motor Axonal Neuropathy in Association with Hepatitis E. ( 29479336 )
2018
13
Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy. ( 29766026 )
2018
14
Bilateral spinal anterior horn lesions in acute motor axonal neuropathy. ( 29853225 )
2018
15
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy. ( 30001929 )
2018
16
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia. ( 30006059 )
2018
17
Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene. ( 30246730 )
2018
18
Acute motor and sensory axonal neuropathy associated with Sjögren's syndrome. ( 30335268 )
2018
19
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. ( 30401461 )
2018
20
Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features. ( 30532362 )
2018
21
Treatment of an acute motor and sensory axonal neuropathy with propionate in a 33-year-old male. ( 30542375 )
2018
22
Fatal, paraparetic acute motor axonal neuropathy, early complicating chemotherapy with nab-paclitaxel. ( 30589645 )
2018
23
Acute motor axonal neuropathy and transverse myelitis overlap: the importance of history taking. ( 29143293 )
2017
24
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
25
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
26
Acute nutritional axonal neuropathy. ( 28556429 )
2017
27
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. ( 28005197 )
2017
28
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. ( 28355569 )
2017
29
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. ( 28834584 )
2017
30
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
31
Atypical Electrophysiological Findings in a Patient with Acute Motor and Sensory Axonal Neuropathy. ( 29167658 )
2017
32
Acute axonal neuropathy subtype of Guillain BarrAc syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies. ( 28754297 )
2017
33
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
34
Atypical Acute Motor Axonal Neuropathy with Cerebrospinal Pleocytosis Mimicking Myelitis. ( 28176505 )
2017
35
Acute motor and sensory axonal neuropathy related to treatment with MEK inhibitors in a patient with advanced melanoma. ( 28872488 )
2017
36
Inflammatory Myopathy and Axonal Neuropathy in a Patient With Melanoma Following Pembrolizumab Treatment. ( 28498142 )
2017
37
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
38
Atypical acute motor axonal neuropathy following alemtuzumab treatment in multiple sclerosis patient. ( 28567571 )
2017
39
Prospective comparison of acute motor axonal neuropathy and acute inflammatory demyelinating polyradiculoneuropathy in 140 children with Guillain-BarrAc syndrome in India. ( 29053890 )
2017
40
Poster 48 A Novel Presentation of Acute Motor Axonal Neuropathy: A Case Report. ( 27672816 )
2016
41
Encephalopathy and Axonal Neuropathy Associated With Mycoplasma Pneumoniae Infection: Response to Intravenous Immunoglobulin Therapy. ( 28503607 )
2016
42
Axonal neuropathy with neuromyotonia: there is a HINT. ( 28007994 )
2016
43
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
44
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature. ( 27199887 )
2016
45
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
46
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. ( 27040688 )
2016
47
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
48
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. ( 27838833 )
2016
49
A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family. ( 27428488 )
2016
50
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016

Variations for Axonal Neuropathy

Expression for Axonal Neuropathy

Search GEO for disease gene expression data for Axonal Neuropathy.

Pathways for Axonal Neuropathy

Pathways related to Axonal Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 KIF5A NEFH NEFL

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 ATAD3A DCAF8 GARS GDAP1 MFN2 POLG
2 axon GO:0030424 9.72 GARS MYH14 NEFH NEFL SPG11
3 growth cone GO:0030426 9.58 MYH14 NEFL TRPV4
4 myelin sheath GO:0043209 9.46 MYH14 NEFH NEFL SLC25A4
5 neurofilament GO:0005883 9.37 NEFH NEFL
6 mitochondrial nucleoid GO:0042645 9.13 ATAD3A POLG TWNK
7 postsynaptic intermediate filament cytoskeleton GO:0099160 8.62 NEFH NEFL

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 ATAD3A GDAP1 TWNK
2 axon development GO:0061564 9.46 NEFH NEFL
3 mitochondrial fusion GO:0008053 9.43 GDAP1 MFN2
4 synaptic vesicle transport GO:0048489 9.4 KIF5A SPG11
5 mitochondrial DNA replication GO:0006264 9.32 POLG TWNK
6 neurofilament cytoskeleton organization GO:0060052 9.26 NEFH NEFL
7 intermediate filament bundle assembly GO:0045110 9.16 NEFH NEFL
8 neurofilament bundle assembly GO:0033693 8.96 NEFH NEFL
9 postsynaptic intermediate filament cytoskeleton organization GO:0099185 8.62 NEFH NEFL

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 8.62 NEFH NEFL

Sources for Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....