MCID: AXN001
MIFTS: 36

Axonal Neuropathy malady

Neuronal diseases category
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Summaries for Axonal Neuropathy

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33MalaCards
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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). Affiliated tissues include skin, brain and endothelial, and related mouse phenotypes are growth/size/body and cellular.

Aliases & Classifications for Axonal Neuropathy

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8Disease Ontology, 10DISEASES, 62UMLS, 40NCIt, 58SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

axonal neuropathy 8 10 62


External Ids:

Disease Ontology8 DOID:7319
SNOMED-CT58 60703000
NCIt40 C27301

Related Diseases for Axonal Neuropathy

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Sources:
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 119)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy31.9GAN, NEFL
2giant axonal neuropathy31.7GAN
3acute motor axonal neuropathy10.9
4acute motor-sensory axonal neuropathy10.6
5spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
6ataxia10.5
7paraplegia10.4
8spasticity10.4
9spinocerebellar ataxia10.4
10infantile axonal neuropathy10.4
11neuromyotonia and axonal neuropathy, autosomal recessive10.4
12hepatitis10.4
13gars-associated axonal neuropathy10.4
14moebius axonal neuropathy hypogonadism10.4
15severe infantile axonal neuropathy10.4
16myelitis10.3
17neuronitis10.3
18transverse myelitis10.3
19hereditary spastic paraplegia10.3
20muscular atrophy10.3
21cerebritis10.3
22influenza10.3
23polyneuropathy10.3
24spinal muscular atrophy10.3
25spinal muscular atrophy with respiratory distress 110.3
26giant axonal neuropathy 2, autosomal dominant10.3
27severe early-onset axonal neuropathy due to nefl deficiency10.3
28hepatitis c10.2
29neuroaxonal dystrophy10.2
30hepatitis a10.2
31restless legs syndrome10.2
32systemic lupus erythematosus10.2
33critical illness polyneuropathy10.2
34parkinson's disease10.2
35cerebellar ataxia10.2
36cervicitis10.2
37hypertension10.2
38lupus erythematosus10.2
39myopathy10.2
40ophthalmoplegia10.2
41optic atrophy10.2
42peripheral neuropathy10.2
43pneumonia10.2
44purpura10.2
45early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.2
46möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.2
47severe early-onset axonal neuropathy due to mfn2 deficiency10.2
48lissencephaly - demyelinating axonal neuropathy10.2
49alcohol abuse10.0
50eosinophilia-myalgia syndrome10.0

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Axonal Neuropathy:

33
Skin, Brain, Endothelial, T cells, Smooth muscle, Bone marrow, Testes, Bone, Tongue, Globus pallidus

Animal Models for Axonal Neuropathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Axonal Neuropathy:

37
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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52PubMed
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Articles related to Axonal Neuropathy:

(show top 50)    (show all 292)
idTitleAuthorsYear
1
Compound muscle action potential amplitude and distal potential duration in axonal neuropathy. (24038120)
2014
2
A case of acute motor and sensory axonal neuropathy following hepatitis a infection. (24339719)
2013
3
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
4
Transverse myelitis and acute motor sensory axonal neuropathy due to Legionella pneumophila: A case report. (24330286)
2013
5
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
6
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. (21356581)
2012
7
Acute transverse myelitis and acute motor axonal neuropathy developed after vaccinations against seasonal and 2009 A/H1N1 influenza. (21372468)
2011
8
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
9
Antiretroviral therapy-associated acute motor and sensory axonal neuropathy. (21327178)
2011
10
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
11
Severe pulmonary hypertension associated with the acute motor sensory axonal neuropathy subtype of Guillain-BarrAc syndrome. (20051787)
2010
12
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. (20039262)
2009
13
Reversible encephalopathy and axonal neuropathy in Parkinson's disease during duodopa therapy. (19795477)
2009
14
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
15
Disruption of fibroblast growth factor receptor signaling in nonmyelinating Schwann cells causes sensory axonal neuropathy and impairment of thermal pain sensitivity. (19211868)
2009
16
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (19293842)
2009
17
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
18
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
19
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
20
Acute motor axonal neuropathy presenting with bowel, bladder, and erectile dysfunction. (17334958)
2007
21
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
22
Hereditary spastic paraplegia 3A associated with axonal neuropathy. (17502470)
2007
23
Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. (16374829)
2006
24
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
25
Cerebellar ataxia and acute motor axonal neuropathy associated with Anti GD1b and Anti GM1 antibodies. (16054817)
2005
26
Overexpression of GD1a ganglioside sensitizes motor nerve terminals to anti-GD1a antibody-mediated injury in a model of acute motor axonal neuropathy. (15716397)
2005
27
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
28
An unusual phenotype of McLeod syndrome with late onset axonal neuropathy. (14638894)
2003
29
Acute motor axonal neuropathy with selective involvement of the lower limbs. (19078684)
2002
30
Axonal neuropathy in chronic peripheral arterial occlusive disease. (12362411)
2002
31
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. (12398836)
2002
32
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
33
Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy. (10918266)
2000
34
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (10071104)
1999
35
Hyperreflexia in Guillain-BarrAc syndrome: relation with acute motor axonal neuropathy and anti-GM1 antibody. (10406985)
1999
36
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. (9701481)
1998
37
Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy. A clinical and electrophysiological study. (9217680)
1997
38
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
39
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
40
Acute motor axonal neuropathy: a frequent cause of acute flaccid paralysis in China. (8489203)
1993
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
Congenital giant axonal neuropathy. (2990373)
1985
47
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
48
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
49
Giant axonal neuropathy: combined central and peripheral nervous system disease. (217319)
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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2BioGPS, 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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Compounds for genes affiliated with Axonal Neuropathy

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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
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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet