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 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, colon and breast, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 238)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 34.2 DCAF8 GAN NEFH
2 giant axonal neuropathy 2 33.6 DCAF8 GAN
3 mitochondrial dna depletion syndrome 7 32.3 SLC25A4 TWNK
4 charcot-marie-tooth disease, demyelinating, type 4f 31.8 GDAP1 TDP1
5 charcot-marie-tooth disease, axonal, type 2b1 31.8 LMNA TRIM2
6 charcot-marie-tooth disease, type 4b2 31.8 GDAP1 TDP1
7 charcot-marie-tooth disease, axonal, type 2d 31.8 GARS PMP22
8 charcot-marie-tooth disease, type 4d 31.7 GDAP1 MFN2 TRPV4
9 hereditary motor and sensory neuropathy, type iic 31.7 GDAP1 MFN2 SPG11 TRPV4
10 charcot-marie-tooth disease, type 4a 31.7 GDAP1 TDP1
11 charcot-marie-tooth disease, demyelinating, type 1a 31.7 GDAP1 MFN2 PMP22
12 charcot-marie-tooth disease, axonal, type 2k 31.5 GDAP1 KIF5A MFN2 TRPV4
13 charcot-marie-tooth disease, axonal, type 2e 31.0 GAN GARS GDAP1 HINT1 LMNA MFN2
14 neuropathy 30.9 GAN GARS GDAP1 HINT1 MFN2 PMP22
15 3-methylglutaconic aciduria, type iii 30.1 ATAD3A C19orf12 MFN2
16 polyneuropathy 29.9 GDAP1 PMP22 POLG
17 sensory peripheral neuropathy 29.8 GDAP1 MFN2 PMP22
18 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 29.7 DCAF8 GDAP1 MFN2 PMP22
19 tooth disease 29.7 GARS GDAP1 LMNA MFN2 PMP22 TRPV4
20 peripheral nervous system disease 29.7 GAN GARS GDAP1 MFN2 PMP22 POLG
21 spastic paraplegia 10, autosomal dominant 29.4 KIF5A SPG11
22 hereditary spastic paraplegia 29.4 ATAD3A C19orf12 GAN KIF5A SPG11
23 charcot-marie-tooth disease 28.6 GAN GARS GDAP1 HINT1 LMNA MFN2
24 neuromyotonia and axonal neuropathy, autosomal recessive 12.7
25 giant axonal neuropathy 1, autosomal recessive 12.6
26 spinocerebellar ataxia type 1 with axonal neuropathy 12.6
27 acute motor axonal neuropathy 12.5
28 giant axonal neuropathy 2, autosomal dominant 12.4
29 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12.4
30 spinocerebellar ataxia with axonal neuropathy type 2 12.3
31 infantile axonal neuropathy 12.3
32 gars-associated axonal neuropathy 12.3
33 severe infantile axonal neuropathy 12.3
34 acute motor and sensory axonal neuropathy 12.2
35 moebius axonal neuropathy hypogonadism 12.1
36 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 12.1
37 microcephaly-complex motor and sensory axonal neuropathy syndrome 12.1
38 severe early-onset axonal neuropathy due to mfn2 deficiency 12.1
39 charcot-marie-tooth disease, demyelinating, type 1f 11.7
40 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.6
41 spinal muscular atrophy, distal, autosomal recessive, 1 11.5
42 spinocerebellar ataxia, autosomal recessive 1 11.4
43 spinocerebellar ataxia 4 11.2
44 spinocerebellar ataxia 46 11.2
45 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.2
46 neuropathy, hereditary sensory and autonomic, type ia 11.2
47 charcot-marie-tooth disease, x-linked dominant, 1 11.2
48 neuropathy, hereditary motor and sensory, type via 11.2
49 spastic paraplegia 56, autosomal recessive 11.2
50 neuropathy, hereditary motor and sensory, type vib 11.2

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 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.06 GARS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.06 LMNA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.06 GARS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.06 GARS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 10.06 SLC25A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.06 GARS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.06 KIF5A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.06 GARS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.06 GARS KIF5A LMNA SLC25A4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.06 KIF5A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.06 KIF5A
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.06 GARS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.06 LMNA
14 Decreased viability GR00240-S-1 10.02 LMNA
15 Decreased viability GR00381-A-1 10.02 MYH14 SLC25A4
16 Decreased viability GR00402-S-2 10.02 ATAD3A C19orf12 DCAF8 GAN GARS GDAP1
17 no effect GR00402-S-1 9.62 ATAD3A C19orf12 DCAF8 GAN GARS GDAP1

MGI Mouse Phenotypes related to Axonal Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ATAD3A GAN GARS GDAP1 KIF5A LMNA
2 cellular MP:0005384 10.13 ATAD3A GAN GDAP1 HINT1 KIF5A LMNA
3 homeostasis/metabolism MP:0005376 9.9 ATAD3A GDAP1 HINT1 KIF5A LMNA MFN2
4 muscle MP:0005369 9.65 ATAD3A GAN GARS LMNA MFN2 MYH14
5 nervous system MP:0003631 9.47 GAN GARS GDAP1 KIF5A LMNA MFN2

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, Colon, Breast, Brain, Testes, Tongue, Bone Marrow

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 403)
# 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
Prospective comparison of acute motor axonal neuropathy and acute inflammatory demyelinating polyradiculoneuropathy in 140 children with Guillain-Barré syndrome in India. ( 29053890 )
2018
11
Bilateral spinal anterior horn lesions in acute motor axonal neuropathy. ( 29853225 )
2018
12
Acute motor and sensory axonal neuropathy associated with Sjögren's syndrome. ( 30335268 )
2018
13
An overlapping case of Bickerstaff brainstem encephalitis and acute motor axonal neuropathy variant of Guillain-Barre syndrome associated with Systemic Lupus Erythematosus. ( 30444497 )
2018
14
Treatment of an acute motor and sensory axonal neuropathy with propionate in a 33-year-old male. ( 30542375 )
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
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. ( 30401461 )
2018
19
Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features. ( 30532362 )
2018
20
Acute motor axonal neuropathy and transverse myelitis overlap: the importance of history taking. ( 29143293 )
2017
21
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
22
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
23
Acute nutritional axonal neuropathy. ( 28556429 )
2017
24
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. ( 28005197 )
2017
25
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. ( 28355569 )
2017
26
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. ( 28834584 )
2017
27
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
28
Atypical Electrophysiological Findings in a Patient with Acute Motor and Sensory Axonal Neuropathy. ( 29167658 )
2017
29
Acute axonal neuropathy subtype of Guillain BarrAc syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies. ( 28754297 )
2017
30
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
31
Atypical Acute Motor Axonal Neuropathy with Cerebrospinal Pleocytosis Mimicking Myelitis. ( 28176505 )
2017
32
Acute motor and sensory axonal neuropathy related to treatment with MEK inhibitors in a patient with advanced melanoma. ( 28872488 )
2017
33
Inflammatory Myopathy and Axonal Neuropathy in a Patient With Melanoma Following Pembrolizumab Treatment. ( 28498142 )
2017
34
Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G&amp;gt;a (R457Q). ( 29278894 )
2017
35
Atypical acute motor axonal neuropathy following alemtuzumab treatment in multiple sclerosis patient. ( 28567571 )
2017
36
Poster 48 A Novel Presentation of Acute Motor Axonal Neuropathy: A Case Report. ( 27672816 )
2016
37
Encephalopathy and Axonal Neuropathy Associated With Mycoplasma Pneumoniae Infection: Response to Intravenous Immunoglobulin Therapy. ( 28503607 )
2016
38
Axonal neuropathy with neuromyotonia: there is a HINT. ( 28007994 )
2016
39
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
40
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature. ( 27199887 )
2016
41
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
42
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. ( 27040688 )
2016
43
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
44
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. ( 27838833 )
2016
45
A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family. ( 27428488 )
2016
46
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
47
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27369358 )
2016
48
C1q-targeted inhibition of the classical complement pathway prevents injury in a novel mouse model of acute motor axonal neuropathy. ( 26936605 )
2016
49
Severe Acute Axonal Neuropathy following Treatment with Arsenic Trioxide for Acute Promyelocytic Leukemia: a Case Report. ( 27158436 )
2016
50
Finger drop sign in a child with acute motor and sensory axonal neuropathy form of Guillain-BarrAc syndrome. ( 27418363 )
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 9.28 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 protein targeting to mitochondrion GO:0006626 9.32 GDAP1 MFN2
2 mitochondrial fusion GO:0008053 9.26 GDAP1 MFN2
3 synaptic vesicle transport GO:0048489 9.16 KIF5A SPG11
4 mitochondrion organization GO:0007005 9.13 ATAD3A GDAP1 TWNK
5 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

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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