MCID: AXN001
MIFTS: 36

Axonal Neuropathy malady

Neuronal diseases category
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Summaries for Axonal Neuropathy

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MalaCards based summary: Axonal Neuropathy is related to neuropathy and giant axonal neuropathy. An important gene associated with Axonal Neuropathy is GAN (gigaxonin). Affiliated tissues include skin, brain and testes, and related mouse phenotypes are growth/size/body and cellular.

Aliases & Classifications for Axonal Neuropathy

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Axonal Neuropathy, Aliases & Descriptions:

Name: Axonal Neuropathy 8 10 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:7319
SNOMED-CT57 60703000
NCIt39 C27301

Related Diseases for Axonal Neuropathy

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy32.0GAN, NEFL
2giant axonal neuropathy31.9GAN
3acute motor axonal neuropathy10.9
4neuromyotonia and axonal neuropathy, autosomal recessive10.6
5acute motor-sensory axonal neuropathy10.6
6spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.6
7ataxia10.6
8spasticity10.5
9paraplegia10.5
10spinocerebellar ataxia10.4
11infantile axonal neuropathy10.4
12hepatitis10.4
13neuronitis10.4
14gars-associated axonal neuropathy10.4
15moebius axonal neuropathy hypogonadism10.4
16severe infantile axonal neuropathy10.4
17spinal muscular atrophy with respiratory distress 110.3
18myelitis10.3
19transverse myelitis10.3
20hereditary spastic paraplegia10.3
21spinal muscular atrophy10.3
22muscular atrophy10.3
23cerebritis10.3
24influenza10.3
25early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.3
26giant axonal neuropathy 2, autosomal dominant10.3
27severe early-onset axonal neuropathy due to nefl deficiency10.3
28cerebellar ataxia10.2
29hypertension10.2
30parkinson's disease10.2
31systemic lupus erythematosus10.2
32neuroaxonal dystrophy10.2
33hepatitis c10.2
34hepatitis a10.2
35restless legs syndrome10.2
36cervicitis10.2
37guillain-barre syndrome10.2
38lupus erythematosus10.2
39ophthalmoplegia10.2
40optic atrophy10.2
41peripheral neuropathy10.2
42pneumonia10.2
43polyneuropathy10.2
44purpura10.2
45keratoderma palmoplantar spastic paralysis10.2
46spinocerebellar ataxia autosomal recessive 110.2
47möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.2
48severe early-onset axonal neuropathy due to mfn2 deficiency10.2
49west syndrome10.0
50alcohol abuse10.0

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



Diseases related to axonal neuropathy

Symptoms for Axonal Neuropathy

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Drugs & Therapeutics for Axonal Neuropathy

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Drug clinical trials:

Search ClinicalTrials for Axonal Neuropathy

Search NIH Clinical Center for Axonal Neuropathy

Genetic Tests for Axonal Neuropathy

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Anatomical Context for Axonal Neuropathy

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MalaCards organs/tissues related to Axonal Neuropathy:

32
Skin, Brain, Testes, Bone marrow, Bone, Smooth muscle, T cells, Endothelial, Globus pallidus, Tongue

Animal Models for Axonal Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Axonal Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1GAN, BAG3, HINT1, BSCL2
2MP:00053847.3TDP1, GAN, BAG3, HINT1, BSCL2

Publications for Axonal Neuropathy

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Articles related to Axonal Neuropathy:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Giant Axonal Neuropathy. (25213662)
2014
2
PARK2 presenting as a disabling peripheral axonal neuropathy. (25060649)
2014
3
Compound muscle action potential amplitude and distal potential duration in axonal neuropathy. (24038120)
2014
4
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
5
De novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy and Cerebellar Atrophy. (25265257)
2014
6
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
7
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. (25008398)
2014
8
A case of acute motor and sensory axonal neuropathy following hepatitis a infection. (24339719)
2013
9
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
10
Transverse myelitis and acute motor sensory axonal neuropathy due to Legionella pneumophila: A case report. (24330286)
2013
11
Explaining intermediate filament accumulation in giant axonal neuropathy. (25003002)
2013
12
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
13
Acute transverse myelitis and acute motor axonal neuropathy developed after vaccinations against seasonal and 2009 A/H1N1 influenza. (21372468)
2011
14
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
15
Antiretroviral therapy-associated acute motor and sensory axonal neuropathy. (21327178)
2011
16
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
17
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. (20039262)
2009
18
Reversible encephalopathy and axonal neuropathy in Parkinson's disease during duodopa therapy. (19795477)
2009
19
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
20
Disruption of fibroblast growth factor receptor signaling in nonmyelinating Schwann cells causes sensory axonal neuropathy and impairment of thermal pain sensitivity. (19211868)
2009
21
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (19293842)
2009
22
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
23
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
24
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
25
Acute motor axonal neuropathy presenting with bowel, bladder, and erectile dysfunction. (17334958)
2007
26
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
27
Hereditary spastic paraplegia 3A associated with axonal neuropathy. (17502470)
2007
28
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. (16374829)
2006
29
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
30
Cerebellar ataxia and acute motor axonal neuropathy associated with Anti GD1b and Anti GM1 antibodies. (16054817)
2005
31
Overexpression of GD1a ganglioside sensitizes motor nerve terminals to anti-GD1a antibody-mediated injury in a model of acute motor axonal neuropathy. (15716397)
2005
32
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
33
Acute motor axonal neuropathy with selective involvement of the lower limbs. (19078684)
2002
34
Axonal neuropathy in chronic peripheral arterial occlusive disease. (12362411)
2002
35
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
36
Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy. (10918266)
2000
37
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (10071104)
1999
38
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. (9701481)
1998
39
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
40
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
41
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
42
Giant axonal neuropathy: studies with sulfhydryl donor compounds. (2324766)
1990
43
Multiple sclerosis associated with axonal neuropathy. (2100156)
1990
44
Abnormalities of sympathetic vasomotor tone in distal axonal neuropathy. (2544682)
1989
45
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
46
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
47
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
48
Giant axonal neuropathy: combined central and peripheral nervous system disease. (217319)
1979
49
The central nervous system in canine giant axonal neuropathy. (223361)
1979
50
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977

Variations for Axonal Neuropathy

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Expression for genes affiliated with Axonal Neuropathy

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Expression patterns in normal tissues for genes affiliated with Axonal Neuropathy

Search GEO for disease gene expression data for Axonal Neuropathy.

Pathways for genes affiliated with Axonal Neuropathy

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Compounds for genes affiliated with Axonal Neuropathy

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GO Terms for genes affiliated with Axonal Neuropathy

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Cellular components related to Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.9TDP1, GAN, BAG3, NEFL, HINT1

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082198.8TDP1, GAN, BSCL2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet