MCID: AXN001
MIFTS: 45

Axonal Neuropathy malady

Neuronal diseases category

Summaries for Axonal Neuropathy

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32MalaCards
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MalaCards: Axonal Neuropathy is related to neuropathy and giant axonal neuropathy. An important gene associated with Axonal Neuropathy is GAN (gigaxonin), and among its related pathways are Nucleotide Excision Repair and Cytoskeleton remodeling Neurofilaments. The compounds ctab and gaba have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and dorsal root ganglion, and related mouse phenotypes are nervous system and homeostasis/metabolism.

Aliases & Classifications for Axonal Neuropathy

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

axonal neuropathy 8 10 60


External Ids:

Disease Ontology8 DOID:7319
SNOMED-CT56 60703000
NCIt39 C27301

Related Diseases for Axonal Neuropathy

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17GeneCards, 18GeneDecks
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Diseases related to Axonal Neuropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.8TRPV4, NEFL, MPZ, GARS, GAN, MFN2
2giant axonal neuropathy31.5GAN, VIM
3spinocerebellar ataxia30.5PLEKHG4, TDP1
4muscular atrophy30.3TRPV4
5polyneuropathy30.3MPZ, TUBB, GAN
6hereditary spastic paraplegia30.3KIF5A, ATL1
7myopathy30.2MFN2, ACADS, NEFL, GARS, RPS27A, MPZ
8neuroaxonal dystrophy30.2GAN
9charcot-marie-tooth neuropathy type 230.0GARS, NEFL, MPZ, MFN2
10multiple sclerosis29.9MPZ, NEFL, TUBB
11spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
12peripheral neuropathy10.5
13paraplegia10.4
14neuromyotonia and axonal neuropathy, autosomal recessive10.4
15hepatitis10.3
16gars-associated axonal neuropathy10.3
17moebius axonal neuropathy hypogonadism10.3
18myelitis10.3
19neuronitis10.3
20hepatitis a10.3
21infantile axonal neuropathy10.3
22severe infantile axonal neuropathy10.3
23cerebritis10.2
24influenza10.2
25spinal muscular atrophy10.2
26severe early-onset axonal neuropathy due to nefl deficiency10.2
27acute motor axonal neuropathy10.2
28parkinson's disease10.1
29hepatitis c10.1
30restless legs syndrome10.1
31systemic lupus erythematosus10.1
32critical illness polyneuropathy10.1
33cerebellar ataxia10.1
34cervicitis10.1
35diabetic neuropathy10.1
36hypertension10.1
37lupus erythematosus10.1
38ophthalmoplegia10.1
39optic atrophy10.1
40pneumonia10.1
41purpura10.1
42early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.1
43spinal muscular atrophy with respiratory distress 110.1
44möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.1
45severe early-onset axonal neuropathy due to mfn2 deficiency10.1
46acute motor-sensory axonal neuropathy10.1
47lissencephaly - demyelinating axonal neuropathy10.1
48leopard syndrome10.0
49eosinophilia-myalgia syndrome10.0
50alcohol abuse10.0

Graphical network of the top 20 diseases related to Axonal Neuropathy:



Diseases related to axonal neuropathy

Clinical Features for Axonal Neuropathy

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Drugs & Therapeutics for Axonal Neuropathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Axonal Neuropathy

Drug clinical trials:

Search ClinicalTrials for Axonal Neuropathy

Search NIH Clinical Center for Axonal Neuropathy

Search CenterWatch for Axonal Neuropathy

Genetic Tests for Axonal Neuropathy

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Anatomical Context for Axonal Neuropathy

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32MalaCards
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MalaCards organs/tissues related to Axonal Neuropathy:

32
Skin, Brain, Dorsal root ganglion, Globus pallidus, Endothelial, T cells, Testes, Bone marrow, Kidney, Skeletal muscle, Smooth muscle, Spinal cord, Bone, Tongue

Animal Models for Axonal Neuropathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Axonal Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.9GARS, GAN, MFN2, VIM, MPZ, NEFL
2MP:00053769.9MFN2, MPZ, LIG3, TRPV4, HINT1, KIF5A
3MP:00053869.9TDP1, VIM, MFN2, GAN, GARS, MPZ
4MP:00053849.8MPZ, GAN, MFN2, VIM, LIG3, HINT1
5MP:00053699.8VIM, MFN2, GAN, GARS, LIG3, TRPV4

Publications for Axonal Neuropathy

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50PubMed
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Articles related to Axonal Neuropathy:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
2
Bortezomib-induced neuropathy: Axonal membrane depolarization precedes development of neuropathy. (23973385)
2014
3
Increased nerve vascularization detected by color Doppler sonography in patients with ulnar neuropathy at the elbow indicates axonal damage. (23168608)
2013
4
A case of acute motor and sensory axonal neuropathy following hepatitis a infection. (24339719)
2013
5
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
6
Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons. (23280954)
2013
7
Critical illness polyneuropathy/critical illness myopathy and acute motor-sensory axonal neuropathy. Response. (23667929)
2013
8
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. (23316953)
2013
9
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
10
Reversible isolated sensory axonal neuropathy due to cobalamin deficiency. (22334179)
2012
11
Motor neuron disease and acquired axonal neuropathy association in HIV infection: case report and update. (22998474)
2012
12
Subacute motor axonal neuropathy associated with the IgG anti-GalNAc-GD1a antibody. (22700488)
2011
13
Acute motor axonal neuropathy cases in Van region. (21682081)
2011
14
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie- Tooth neuropathies. (21288981)
2011
15
Corticospinal tract dysfunction in a patient with acute motor axonal neuropathy (AMAN). (21885186)
2011
16
Association between acute motor axonal neuropathy and ophthalmoplegia during pregnancy. (21565505)
2011
17
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
18
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. (20660910)
2010
19
Conduction block in acute motor axonal neuropathy. (20855419)
2010
20
Monospecific high-affinity and complement activating anti-GM1 antibodies are determinants in experimental axonal neuropathy. (20382399)
2010
21
MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy. (20093502)
2010
22
Reversible encephalopathy and axonal neuropathy in Parkinson's disease during duodopa therapy. (19795477)
2009
23
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
24
Genotype-phenotype analysis in patients with giant axonal neuropathy. (18343115)
2008
25
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. (18425620)
2008
26
Axonal neuropathy caused by epothilone B. (17558132)
2007
27
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. (16374829)
2006
28
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. (16775369)
2006
29
Giant axonal neuropathy: diffusion-weighted imaging features of the brain. (17005115)
2006
30
Anti-GM1 antibody-negative acute motor axonal neuropathy after Mycoplasma pneumoniae infection. (16420402)
2006
31
An unusual phenotype of McLeod syndrome with late onset axonal neuropathy. (14638894)
2003
32
Paraneoplastic ophthalmoplegia and subacute motor axonal neuropathy associated with anti-GQ1b antibodies in a patient with malignant melanoma. (12640075)
2003
33
Giant axonal neuropathy: MRS findings. (14569833)
2003
34
Cerebral white matter lesions in acute motor axonal neuropathy. (12874422)
2003
35
Mechanisms of early and late recovery in acute motor axonal neuropathy. (11180213)
2001
36
Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy. (10918266)
2000
37
Unusual pure motor axonal neuropathy in a Burmese family with galactosialidosis. (9870214)
1998
38
A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments. (9865543)
1998
39
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region. (9307259)
1997
40
Axonal neuropathy in a patient receiving interferon-alpha therapy for chronic hepatitis C. (9263170)
1997
41
Axonal neuropathy associated with interferon-alpha treatment for hepatitis C: HLA-DR immunoreactivity in Schwann cells. (9386785)
1997
42
Early nodal changes in the acute motor axonal neuropathy pattern of the Guillain-BarrAc syndrome. (8852937)
1996
43
Acute idiopathic axonal neuropathy (AIAN): a clinical and electrophysiological observation. (8030405)
1994
44
Axonal neurofilamentous accumulations: a comparison between human and canine giant axonal neuropathy and 2,5-HD neuropathy. (8355809)
1993
45
Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments. (2015839)
1991
46
Multiple sclerosis associated with axonal neuropathy. (2100156)
1990
47
Giant axonal neuropathy: observations on a further patient. (2849642)
1988
48
Further studies of the central nervous system in canine giant axonal neuropathy. (7453946)
1980
49
Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related? (575280)
1979
50
Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease. (581901)
1979

Genetic Variations for Axonal Neuropathy

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Expression for genes affiliated with Axonal Neuropathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Axonal Neuropathy

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Pathways for genes affiliated with Axonal Neuropathy

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53Reactome, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Axonal Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3TDP1, LIG3, RPS27A
2
Hide members
10.3KIF5A, NEFL, TUBB, VIM
310.3VIM, TUBB, ATL1, NEFL

Compounds for genes affiliated with Axonal Neuropathy

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Axonal Neuropathy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1ctab4410.5VIM, MPZ
2gaba4410.5RPS27A, VIM, TUBB, GARS
3creatinine4410.4RPS27A, VIM, TUBB, MPZ, NEFL
4Adenosine monophosphate11 2411.4HINT1, LIG3, PRPS1, GARS
5nmda44 2811.4NEFL, GARS, VIM, RPS27A
6biotin44 11 2412.4MPZ, VIM, RPS27A
7glutamate4410.3ACADS, NEFL, MPZ, GARS, TUBB, VIM
8thymidylate4410.3RPS27A, VIM, TUBB
9bromodeoxyuridine4410.3MPZ, TUBB, VIM
10camptothecin44 59 1112.2TDP1, LIG3, RPS27A
11fluorochrome4410.1VIM, RPS27A

GO Terms for genes affiliated with Axonal Neuropathy

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16Gene Ontology
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Cellular components related to Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neurofilamentGO:00588310.1NEFL, GAN
2cytosolGO:00582910.1VIM, TUBB, MFN2, GARS, NEFL, PRPS1

Biological processes related to Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:04510910.4NEFL, VIM
2cell deathGO:0082199.8TDP1, KIF5A, TRPV4, ATL1, GARS, GAN

Molecular functions related to Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00520010.3NEFL, TUBB, VIM

Products for genes affiliated with Axonal Neuropathy

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Sources for Axonal Neuropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet