MCID: AXN001
MIFTS: 44

Axonal Neuropathy malady

Neuronal category

Summaries for Axonal Neuropathy

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Axonal Neuropathy is related to giant axonal neuropathy and spinocerebellar ataxia. 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, tongue and spinal cord, and related mouse phenotypes are nervous system and homeostasis/metabolism.

Aliases & Classifications for Axonal Neuropathy

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 57SNOMED-CT, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

axonal neuropathy 8 10 61


External Ids:

Disease Ontology8 DOID:7319
SNOMED-CT57 60703000
NCIt40 C27301

Related Diseases for Axonal Neuropathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1giant axonal neuropathy31.6GAN, VIM
2spinocerebellar ataxia30.6PLEKHG4, TDP1
3muscular atrophy30.4TRPV4
4hereditary spastic paraplegia30.3KIF5A, ATL1
5neuroaxonal dystrophy30.2GAN
6acute motor axonal neuropathy11.0
7n syndrome10.7
8acute motor-sensory axonal neuropathy10.7
9spinocerebellar ataxia with axonal neuropathy, autosomal recessive10.5
10ataxia10.5
11infantile axonal neuropathy10.5
12guillain-barr� syndrome10.4
13moebius axonal neuropathy hypogonadism10.4
14neuromyotonia and axonal neuropathy, autosomal recessive10.4
15hepatitis c10.4
16hepatitis a10.4
17severe infantile axonal neuropathy10.4
18myelitis10.3
19gars-associated axonal neuropathy10.3
20transverse myelitis10.3
21acute transverse myelitis10.3
22spinal muscular atrophy10.3
23severe early-onset axonal neuropathy due to nefl deficiency10.3
24restless legs syndrome10.2
25systemic lupus erythematosus10.2
26critical illness polyneuropathy10.2
27early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.2
28spinal muscular atrophy with respiratory distress 110.2
29neuroaxonal dystrophy, infantile10.2
30h. pylori infection10.2
31möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism10.2
32severe early-onset axonal neuropathy due to mfn2 deficiency10.2
33lissencephaly - demyelinating axonal neuropathy10.2
34leopard syndrome10.0
35parkinson's disease10.0
36eosinophilia-myalgia syndrome10.0
37machado-joseph disease10.0
38alcohol abuse10.0
39acute diarrhea10.0
40radiculopathy10.0
41hepatitis e10.0
42inclusion body myositis10.0
43lissencephaly10.0
44west syndrome10.0
45rapidly progressive glomerulonephritis10.0
46refsum disease10.0
47wernicke encephalopathy10.0
48microcephaly10.0
49maple syrup urine disease10.0
50motor peripheral neuropathy10.0

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



Diseases related to axonal neuropathy

Clinical Features for Axonal Neuropathy

Drugs & Therapeutics for Axonal Neuropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Axonal Neuropathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Axonal Neuropathy:

33
Skin, Tongue, Spinal cord, Brain, Kidney, Bone marrow, Smooth muscle, T cells, B lymphoblasts, B cells, Endothelial, Globus pallidus

Animal Models for Axonal Neuropathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Axonal Neuropathy:

37
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

Sources:
51PubMed
See all sources

Articles related to Axonal Neuropathy:

(show top 50)    (show all 342)
idTitleAuthorsYear
1
Sensomotor axonal peripheral neuropathy as a first complication of polycythemia rubra vera: A report of 3 cases. (24116263)
2013
2
Critical illness polyneuropathy/critical illness myopathy and acute motor-sensory axonal neuropathy. Response. (23667929)
2013
3
Complicated acute motor axonal neuropathy with delayed acute respiratory distress syndrome and rapidly progressive glomerulonephritis: a case report. (23479243)
2013
4
Increased axonal regeneration and swellings in intraepidermal nerve fibers characterize painful phenotypes of diabetic neuropathy. (23685187)
2013
5
Giant axonal neuropathy diagnosed on skin biopsy. (24211141)
2013
6
Reversible isolated sensory axonal neuropathy due to cobalamin deficiency. (22334179)
2012
7
Acute motor-sensory axonal neuropathy after cervical spine surgery. (22559275)
2012
8
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (21820098)
2011
9
Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice. (21220016)
2011
10
Axonal degeneration in peripheral nerves in a case of Leber hereditary optic neuropathy. (21139512)
2011
11
Report of a novel mutation in the PMP22 gene causing an axonal neuropathy. (21337347)
2011
12
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. (20660910)
2010
13
Conduction block in acute motor axonal neuropathy. (20855419)
2010
14
4-Hydroxy-2-nonenal induces mitochondrial dysfunction and aberrant axonal outgrowth in adult sensory neurons that mimics features of diabetic neuropathy. (19557324)
2010
15
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. (20039262)
2009
16
Phenotypic variability in giant axonal neuropathy. (19231187)
2009
17
Childhood steroid-responsive acute erythromelalgia with axonal neuropathy of large myelinated fibers: a dysimmune neuropathy? (19056270)
2009
18
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
19
Acute motor axonal neuropathy--an atypical presentation. (17437915)
2007
20
Time course of axonal regeneration in acute motor axonal neuropathy. (17221880)
2007
21
Neuropathy, axonal Na+/K+ pump function and activity-dependent excitability changes in end-stage kidney disease. (16516547)
2006
22
Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene. (15607947)
2005
23
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. (15534767)
2004
24
Various immunization protocols for an acute motor axonal neuropathy rabbit model compared. (15342135)
2004
25
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
26
Mechanisms of early and late recovery in acute motor axonal neuropathy. (11180213)
2001
27
Vecuronium-associated axonal motor neuropathy: a variant of critical illness polyneuropathy? (11525888)
2001
28
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
29
Familial inclusion body myositis with histologically confirmed sensorimotor axonal neuropathy. (11151424)
2000
30
Axonal loss in a patient with anterior ischemic optic neuropathy as measured with scanning laser polarimetry. (11124316)
2000
31
Pathogenesis of axonal degeneration: parallels between Wallerian degeneration and vincristine neuropathy. (10901231)
2000
32
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). (10071104)
1999
33
Chronic motor axonal neuropathy: pathological evidence of inflammatory polyradiculoneuropathy. (10024142)
1999
34
Autoantibodies to GM1b and GalNAc-GD1a: relationship to Campylobacter jejuni infection and acute motor axonal neuropathy in China. (10402024)
1999
35
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
36
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region. (9307259)
1997
37
Effects of acyclovir on sensory axonal neuropathy, segmental motor paresis and postherpetic neuralgia in herpes zoster patients. (8864710)
1996
38
Axonal neuropathy and late detection of Refsum's disease. (7538630)
1995
39
Gingival biopsy in the diagnosis of giant axonal neuropathy. (7745548)
1995
40
Giant Axonal Neuropathy (20301315)
1993
41
Multiple sclerosis associated with axonal neuropathy. (2100156)
1990
42
Abnormalities of sympathetic vasomotor tone in distal axonal neuropathy. (2544682)
1989
43
Reversible axonal neuropathy from the treatment of AIDS and related disorders with 2',3'-dideoxycytidine (ddC). (2558314)
1989
44
Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. (3010802)
1986
45
Congenital giant axonal neuropathy. (2990373)
1985
46
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
47
Giant axonal neuropathy: acceleration of neurofilament transport in optic axons. (2579382)
1985
48
Giant axonal neuropathy: an inborn error of organization of intermediate filaments. (6280044)
1982
49
"Giant axonal neuropathy" caused by industrial chemicals: neurofilamentous axonal masses in man. (183168)
1976
50
Giant axonal neuropathy. (4339350)
1972

Genetic Variations for Axonal Neuropathy

Expression for genes affiliated with Axonal Neuropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 4Cell Signaling Technology
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Axonal Neuropathy according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1ctab4510.5VIM, MPZ
2gaba4510.5RPS27A, VIM, TUBB, GARS
3creatinine4510.4RPS27A, VIM, TUBB, MPZ, NEFL
4Adenosine monophosphate11 2411.4HINT1, LIG3, PRPS1, GARS
5nmda45 2911.4NEFL, GARS, VIM, RPS27A
6biotin45 11 2412.4MPZ, VIM, RPS27A
7glutamate4510.3ACADS, NEFL, MPZ, GARS, TUBB, VIM
8thymidylate4510.3RPS27A, VIM, TUBB
9bromodeoxyuridine4510.3MPZ, TUBB, VIM
10camptothecin45 60 1112.2TDP1, LIG3, RPS27A
11fluorochrome4510.1VIM, RPS27A

GO Terms for genes affiliated with Axonal Neuropathy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Axonal Neuropathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet