MCID: AXN001
MIFTS: 32

Axonal Neuropathy malady

Neuronal diseases, Rare diseases categories

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 9 11 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:7319
SNOMED-CT55 60703000
NCIt38 C27301

Related Diseases for Axonal Neuropathy

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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 170)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy32.0GAN, NEFL
2giant axonal neuropathy31.9GAN
3acute motor axonal neuropathy10.9
4neuromyotonia and axonal neuropathy, autosomal recessive10.7
5acute motor-sensory axonal neuropathy10.6
6spinocerebellar ataxia, autosomal recessive with axonal neuropathy10.6
7ataxia10.6
8spasticity10.5
9paraplegia10.5
10infantile axonal neuropathy10.5
11giant axonal neuropathy-110.4
12spinocerebellar ataxia10.4
13gars-associated axonal neuropathy10.4
14moebius axonal neuropathy hypogonadism10.4
15severe infantile axonal neuropathy10.4
16hepatitis10.4
17neuronitis10.4
18giant axonal neuropathy 2, autosomal dominant10.3
19myelitis10.3
20transverse myelitis10.3
21severe early-onset axonal neuropathy due to nefl deficiency10.3
22ataxia-ocular apraxia-210.3
23neuronopathy, distal hereditary motor, type vi10.3
24hereditary spastic paraplegia10.3
25spinal muscular atrophy10.3
26muscular atrophy10.3
27cerebritis10.3
28influenza10.3
29polyneuropathy10.3
30möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.3
31severe early-onset axonal neuropathy due to mfn2 deficiency10.3
32systemic lupus erythematosus10.2
33hereditary motor and sensory neuropathy v10.2
34ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.2
35neuropathy, hereditary sensory and autonomic, type ia10.2
36mitochondrial dna depletion syndrome 710.2
37spastic paraplegia, optic atrophy, and neuropathy10.2
38cerebellar ataxia10.2
39progressive external ophthalmoplegia, autosomal recessive10.2
40progressive external ophthalmoplegia, autosomal dominant10.2
41hepatitis c10.2
42erythromelalgia10.2
43neuroaxonal dystrophy10.2
44hepatitis a10.2
45restless legs syndrome10.2
46critical illness polyneuropathy10.2
47cervicitis10.2
48guillain-barre syndrome10.2
49lupus erythematosus10.2
50myopathy10.2

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:

31
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:

35
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 320)
idTitleAuthorsYear
1
Acute motor axonal neuropathy in a child with atypical presentation: a case report. (25621680)
2015
2
Elevated blood mercury levels in idiopathic axonal neuropathy. (25867721)
2015
3
Giant Axonal Neuropathy. (25213662)
2014
4
PARK2 presenting as a disabling peripheral axonal neuropathy. (25060649)
2014
5
Compound muscle action potential amplitude and distal potential duration in axonal neuropathy. (24038120)
2014
6
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
7
De novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy and Cerebellar Atrophy. (25265257)
2014
8
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
9
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. (25008398)
2014
10
A case of acute motor and sensory axonal neuropathy following hepatitis a infection. (24339719)
2013
11
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
12
Transverse myelitis and acute motor sensory axonal neuropathy due to Legionella pneumophila: A case report. (24330286)
2013
13
Explaining intermediate filament accumulation in giant axonal neuropathy. (25003002)
2013
14
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
15
Acute transverse myelitis and acute motor axonal neuropathy developed after vaccinations against seasonal and 2009 A/H1N1 influenza. (21372468)
2011
16
A case of congenital axonal neuropathy associated with West syndrome. (21211919)
2011
17
Antiretroviral therapy-associated acute motor and sensory axonal neuropathy. (21327178)
2011
18
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
19
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. (20039262)
2009
20
Reversible encephalopathy and axonal neuropathy in Parkinson's disease during duodopa therapy. (19795477)
2009
21
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
22
Disruption of fibroblast growth factor receptor signaling in nonmyelinating Schwann cells causes sensory axonal neuropathy and impairment of thermal pain sensitivity. (19211868)
2009
23
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (19293842)
2009
24
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
25
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
26
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
27
Acute motor axonal neuropathy presenting with bowel, bladder, and erectile dysfunction. (17334958)
2007
28
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
29
Hereditary spastic paraplegia 3A associated with axonal neuropathy. (17502470)
2007
30
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
31
Cerebellar ataxia and acute motor axonal neuropathy associated with Anti GD1b and Anti GM1 antibodies. (16054817)
2005
32
Overexpression of GD1a ganglioside sensitizes motor nerve terminals to anti-GD1a antibody-mediated injury in a model of acute motor axonal neuropathy. (15716397)
2005
33
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
34
Acute motor axonal neuropathy with selective involvement of the lower limbs. (19078684)
2002
35
Axonal neuropathy in chronic peripheral arterial occlusive disease. (12362411)
2002
36
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
37
Correlation between quantitative EMG and muscle MRI in patients with axonal neuropathy. (10918266)
2000
38
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (10071104)
1999
39
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. (9701481)
1998
40
Moebius syndrome, an axonal neuropathy and hypogonadism. (8905202)
1996
41
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
42
Giant axonal neuropathy: studies with sulfhydryl donor compounds. (2324766)
1990
43
Abnormalities of sympathetic vasomotor tone in distal axonal neuropathy. (2544682)
1989
44
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
45
Congenital giant axonal neuropathy. (2990373)
1985
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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057377.9TDP1, GAN, BAG3, NEFL, HINT1

Biological processes related to Axonal Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082198.8TDP1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet