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

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Drug clinical trials:

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

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:00036319.9TDP1, KIF5A, VIM, MFN2, GAN, GARS
2MP:00053769.9TDP1, AAAS, ACADS, KIF5A, LIG3, TRPV4
3MP:00053869.9ACADS, AAAS, TDP1, TRPV4, LIG3, ATL1
4MP:00053849.8MPZ, TDP1, AAAS, ACADS, KIF5A, HINT1
5MP:00053699.8TRPV4, LIG3, GARS, GAN, MFN2, ACADS

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
Increased nerve vascularization detected by color Doppler sonography in patients with ulnar neuropathy at the elbow indicates axonal damage. (23168608)
2013
2
Sensomotor axonal peripheral neuropathy as a first complication of polycythemia rubra vera: A report of 3 cases. (24116263)
2013
3
Motor Axonal Neuropathy Associated With Idiopathic CD4(+) T-Lymphocytopenia. (23526179)
2013
4
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. (23585478)
2013
5
Critical illness polyneuropathy/critical illness myopathy and acute motor-sensory axonal neuropathy. (23373568)
2013
6
Ultrasonography of ulnar neuropathy at the elbow: axonal involvement leads to greater nerve swelling than demyelinating nerve lesion. (23068559)
2013
7
Anti-ganglioside antibody internalization attenuates motor nerve terminal injury in a mouse model of acute motor axonal neuropathy. (22307327)
2012
8
TRPV4 axonal neuropathy spectrum disorder. (22617546)
2012
9
Report of a novel mutation in the PMP22 gene causing an axonal neuropathy. (21337347)
2011
10
Severe outcome of pharyngeal-cervical-brachial pure motor axonal neuropathy. (20309392)
2010
11
Acute motor axonal neuropathy in association with SjAPgren syndrome. (20976785)
2010
12
Reversible encephalopathy and axonal neuropathy in Parkinson's disease during duodopa therapy. (19795477)
2009
13
Neuroleptic malignant syndrome and acute motor axonal neuropathy after Campylobacter jejuni infection. (19716463)
2009
14
Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy. (19398414)
2009
15
The role of different neurophysiological tests in the differential diagnosis of diabetic axonal neuropathy and lumbosacral radiculopathy. (21048569)
2009
16
Childhood steroid-responsive acute erythromelalgia with axonal neuropathy of large myelinated fibers: a dysimmune neuropathy? (19056270)
2009
17
Pharmacologic intervention in axonal excitability: in vivo assessment of nodal persistent sodium currents in human neuropathies. (20021424)
2008
18
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. (18957892)
2008
19
3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy. (18581347)
2008
20
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. (18458227)
2008
21
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. (18628786)
2008
22
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
23
Giant axonal neuropathy. (17256086)
2007
24
Neuropathy, axonal Na+/K+ pump function and activity-dependent excitability changes in end-stage kidney disease. (16516547)
2006
25
Benign symmetric lipomatosis with axonal neuropathy and abnormalities in specific mitochondrial tRNA regions. (17182368)
2006
26
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
27
Progressive idiopathic axonal neuropathy--a comparative clinical and histopathological study with vasculitic neuropathy. (15015005)
2004
28
Chronic axonal neuropathy with triosephosphate isomerase deficiency. (14984912)
2004
29
Axonal multifocal motor neuropathy without conduction block or other features of demyelination. (11865141)
2002
30
Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy. (10918266)
2000
31
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. (11053687)
2000
32
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. (11062483)
2000
33
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (10071104)
1999
34
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. (10732815)
1997
35
Acute motor axonal neuropathy in childhood: clinical and MRI findings. (9090692)
1997
36
Gingival biopsy in the diagnosis of giant axonal neuropathy. (7745548)
1995
37
Evidence of peripheral axonal neuropathy in primary restless legs syndrome. (7885351)
1995
38
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
39
Overt diabetic neuropathy: repair of axo-glial dysjunction and axonal atrophy by aldose reductase inhibition and its correlation to improvement in nerve conduction velocity. (8458187)
1993
40
Giant Axonal Neuropathy (20301315)
1993
41
Multiple sclerosis associated with axonal neuropathy. (2100156)
1990
42
Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. (1703388)
1990
43
Abnormalities of sympathetic vasomotor tone in distal axonal neuropathy. (2544682)
1989
44
Delayed onset of distal axonal neuropathy in primates after prolonged low-level administration of a neurotoxin. (2817831)
1989
45
Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. (3631924)
1987
46
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
47
Giant axonal neuropathy: an inborn error of organization of intermediate filaments. (6280044)
1982
48
Giant axonal neuropathy: neurofilaments isolated from diseased dogs have a normal polypeptide composition. (7195344)
1981
49
Inherited canine giant axonal neuropathy. (6264288)
1981
50
Giant axonal neuropathy -- a third case. (4377753)
1974

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
10.3RPS27A, LIG3, TDP1
2
Hide members
10.3VIM, TUBB, NEFL, KIF5A
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:00588310.1GAN, NEFL
2cytosolGO:00582910.1RPS27A, VIM, TUBB, MFN2, GARS, NEFL

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