MCID: AXN001
MIFTS: 38

Axonal Neuropathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Axonal Neuropathy

MalaCards integrated aliases for Axonal Neuropathy:

Name: Axonal Neuropathy 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:7319
NCIt 46 C27301
SNOMED-CT 64 60703000
UMLS 69 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 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 243)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 34.2 ATAD3A DCAF8 GAN
2 giant axonal neuropathy 2 33.8 DCAF8 GAN
3 mitochondrial dna depletion syndrome 7 32.4 SLC25A4 TWNK
4 charcot-marie-tooth disease, demyelinating, type 4f 31.9 GDAP1 TDP1
5 charcot-marie-tooth disease, axonal, type 2b1 31.9 LMNA TRIM2
6 charcot-marie-tooth disease, type 4d 31.8 GDAP1 MFN2 TRPV4
7 charcot-marie-tooth disease, type 4a 31.8 GDAP1 TDP1
8 charcot-marie-tooth disease, demyelinating, type 1a 31.7 GDAP1 MFN2 PMP22
9 hereditary motor and sensory neuropathy, type iic 31.6 GDAP1 MFN2 SPG11 TRPV4
10 spastic paraplegia 15, autosomal recessive 31.2 SPG11 ZFYVE26
11 charcot-marie-tooth disease, axonal, type 2k 31.2 GDAP1 KIF5A MFN2 TRPV4
12 neuropathy 30.6 GAN GDAP1 HINT1 MFN2 PMP22 POLG
13 polyneuropathy 29.8 GDAP1 PMP22 POLG
14 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 29.6 DCAF8 GDAP1 MFN2 PMP22
15 peripheral nervous system disease 29.1 GAN GDAP1 MFN2 PMP22 POLG
16 charcot-marie-tooth disease, axonal, type 2e 29.1 GAN GARS GDAP1 HINT1 LMNA MFN2
17 tooth disease 29.1 GARS GDAP1 LMNA MFN2 PMP22 TRPV4
18 hereditary spastic paraplegia 28.3 C19orf12 GAN KIF5A SPG11 ZFYVE26
19 charcot-marie-tooth disease 27.8 GAN GARS GDAP1 LMNA MFN2 NEFH
20 neuromyotonia and axonal neuropathy, autosomal recessive 12.5
21 giant axonal neuropathy 1, autosomal recessive 12.4
22 acute motor axonal neuropathy 12.3
23 giant axonal neuropathy 2, autosomal dominant 12.3
24 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 12.3
25 spinocerebellar ataxia type 1 with axonal neuropathy 12.2
26 spinocerebellar ataxia with axonal neuropathy type 2 12.2
27 infantile axonal neuropathy 12.1
28 gars-associated axonal neuropathy 12.1
29 severe infantile axonal neuropathy 12.1
30 acute motor and sensory axonal neuropathy 12.1
31 moebius axonal neuropathy hypogonadism 12.0
32 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.9
33 microcephaly-complex motor and sensory axonal neuropathy syndrome 11.9
34 severe early-onset axonal neuropathy due to mfn2 deficiency 11.9
35 charcot-marie-tooth disease, demyelinating, type 1f 11.6
36 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.5
37 spinal muscular atrophy, distal, autosomal recessive, 1 11.3
38 spinocerebellar ataxia, autosomal recessive 1 11.2
39 neurodegeneration with brain iron accumulation 4 11.2
40 spinocerebellar ataxia 4 11.1
41 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.0
42 charcot-marie-tooth disease, x-linked dominant, 1 11.0
43 neuropathy, hereditary motor and sensory, type via 11.0
44 spastic paraplegia 56, autosomal recessive 11.0
45 neuropathy, hereditary motor and sensory, type vib 11.0
46 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 10.9
47 spinocerebellar ataxia 46 10.9
48 keratoderma palmoplantar spastic paralysis 10.9
49 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.9
50 spinal muscular atrophy with respiratory distress type 2 10.9

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ZFYVE26 GAN PMP22 GARS GDAP1 SPG11
2 cellular MP:0005384 10.1 ZFYVE26 PMP22 POLG GDAP1 SLC25A4 HINT1
3 growth/size/body region MP:0005378 9.9 ZFYVE26 GAN PMP22 GARS POLG HINT1
4 muscle MP:0005369 9.56 GAN PMP22 GARS POLG SLC25A4 LMNA
5 nervous system MP:0003631 9.47 ZFYVE26 PMP22 GARS POLG GDAP1 SPG11

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:

38
Skin, Brain, Testes, Tongue, T Cells, Endothelial, Globus Pallidus

Publications for Axonal Neuropathy

Articles related to Axonal Neuropathy:

(show top 50) (show all 380)
# Title Authors Year
1
Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. ( 29212862 )
2018
2
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. ( 28369803 )
2017
3
Atypical Electrophysiological Findings in a Patient with Acute Motor and Sensory Axonal Neuropathy. ( 29167658 )
2017
4
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. ( 28834584 )
2017
5
Atypical acute motor axonal neuropathy following alemtuzumab treatment in multiple sclerosis patient. ( 28567571 )
2017
6
Prospective comparison of acute motor axonal neuropathy and acute inflammatory demyelinating polyradiculoneuropathy in 140 children with Guillain-BarrAc syndrome in India. ( 29053890 )
2017
7
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. ( 28144995 )
2017
8
Acute motor axonal neuropathy and transverse myelitis overlap: the importance of history taking. ( 29143293 )
2017
9
Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. ( 28355569 )
2017
10
Acute nutritional axonal neuropathy. ( 28556429 )
2017
11
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
12
Inflammatory Myopathy and Axonal Neuropathy in a Patient With Melanoma Following Pembrolizumab Treatment. ( 28498142 )
2017
13
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
14
Acute axonal neuropathy subtype of Guillain BarrAc syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies. ( 28754297 )
2017
15
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. ( 28005197 )
2017
16
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
17
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
18
Atypical Acute Motor Axonal Neuropathy with Cerebrospinal Pleocytosis Mimicking Myelitis. ( 28176505 )
2017
19
Acute motor and sensory axonal neuropathy related to treatment with MEK inhibitors in a patient with advanced melanoma. ( 28872488 )
2017
20
Acute Motor Axonal Neuropathy (Aman) With Motor Conduction Blocks In Childhood; Case Report. ( 27057191 )
2016
21
Anti-glycan antibodies halt axon regeneration in a model of Guillain BarrA" Syndrome axonal neuropathy by inducing microtubule disorganization via RhoA-ROCK-dependent inactivation of CRMP-2. ( 26804001 )
2016
22
Unexpected Rapid Improvement and Neurogenic Stunned Myocardium in a Patient With Acute Motor Axonal Neuropathy: A Case Report and Literature Review. ( 26905914 )
2016
23
Severe axonal neuropathy is a late manifestation of SPG11. ( 27544499 )
2016
24
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
25
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
26
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27369358 )
2016
27
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
28
A first case report of HINT1-related axonal neuropathy with neuromyotonia in a Greek family. ( 27428488 )
2016
29
Relapsing Acute Axonal Neuropathy in Hereditary Fructose Intolerance. ( 27720712 )
2016
30
Encephalopathy and Axonal Neuropathy Associated With Mycoplasma Pneumoniae Infection: Response to Intravenous Immunoglobulin Therapy. ( 28503607 )
2016
31
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. ( 27079523 )
2016
32
Poster 48 A Novel Presentation of Acute Motor Axonal Neuropathy: A Case Report. ( 27672816 )
2016
33
Presynaptic Deficits at Neuromuscular Junctions: A Specific Cause and Potential Target of Axonal Neuropathy in Type 2 Charcot-Marie-Tooth Disease. ( 27488627 )
2016
34
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature. ( 27199887 )
2016
35
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
36
Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart. ( 27838833 )
2016
37
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
38
Finger drop sign in a child with acute motor and sensory axonal neuropathy form of Guillain-BarrAc syndrome. ( 27418363 )
2016
39
Axonal neuropathy with neuromyotonia: there is a HINT. ( 28007994 )
2016
40
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. ( 27040688 )
2016
41
Asymmetric Acute Motor Axonal Neuropathy With Unilateral Tongue Swelling Mimicking Stroke. ( 27801771 )
2016
42
C1q-targeted inhibition of the classical complement pathway prevents injury in a novel mouse model of acute motor axonal neuropathy. ( 26936605 )
2016
43
Severe Acute Axonal Neuropathy following Treatment with Arsenic Trioxide for Acute Promyelocytic Leukemia: a Case Report. ( 27158436 )
2016
44
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. ( 25446393 )
2015
45
Acute motor axonal neuropathy in a patient with prolonged CD4 depletion due to HIV: a local variant of macrophage activation syndrome? ( 25988079 )
2015
46
1275: LOCKED IN: A PEDIATRIC CASE OF ACUTE MOTOR AND SENSORY AXONAL NEUROPATHY. ( 26570936 )
2015
47
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. ( 27066569 )
2015
48
Temporary conduction block in acute motor axonal neuropathy. ( 26442689 )
2015
49
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. ( 25846562 )
2015
50
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype. ( 25695920 )
2015

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 9.32 ATAD3A C19orf12 DCAF8 GARS GDAP1 MFN2
2 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 8.96 GDAP1 MFN2
2 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

Sources for Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....