GAN
MCID: GNT009
MIFTS: 55

Giant Axonal Neuropathy (GAN) malady

Neuronal diseases category

Summaries for Giant Axonal Neuropathy

About this section
Sources:
43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses.

MalaCards: Giant Axonal Neuropathy, also known as neuropathy, giant axonal, is related to neuropathy and neuroaxonal dystrophy. An important gene associated with Giant Axonal Neuropathy is GAN (gigaxonin), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeleton remodeling Keratin filaments. The compounds fluorochrome and n-(4-hydroxyphenyl)retinamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain.

NINDS:43 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:63 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

Description from OMIM:46 256850

GeneReviews summary for gan

Aliases & Classifications for Giant Axonal Neuropathy

About this section
Sources:
19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
giant axonal neuropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

giant axonal neuropathy 19 42 21 43 48
neuropathy, giant axonal 42 20 22 21 44
giant axonal neuropathy 1 42 60
gan 42 21
giant axonal neuropathy-1 46
gan1 42


External Ids:

MESH via Orphanet35 D056768
ICD10 via Orphanet26 G60.8
SNOMED-CT via Orphanet57 128207002
OMIM46 256850

Related Diseases for Giant Axonal Neuropathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to giant axonal neuropathy

Clinical Features for Giant Axonal Neuropathy

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

256850

Clinical synopsis from OMIM:

256850

Drugs & Therapeutics for Giant Axonal Neuropathy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Giant Axonal Neuropathy

Drug clinical trials:

Search ClinicalTrials for Giant Axonal Neuropathy

Search NIH Clinical Center for Giant Axonal Neuropathy

Search CenterWatch for Giant Axonal Neuropathy

Genetic Tests for Giant Axonal Neuropathy

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy20 22 GAN

Anatomical Context for Giant Axonal Neuropathy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Giant Axonal Neuropathy:

32
Skin, Bone, Brain, Bone marrow, Skeletal muscle, Endothelial, Globus pallidus

Animal Models for Giant Axonal Neuropathy or affiliated genes

About this section

Publications for Giant Axonal Neuropathy

About this section
Sources:
50PubMed
See all sources

Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
2
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
3
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. (23332420)
2013
4
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. (23248352)
2013
5
Giant axonal neuropathy diagnosed on skin biopsy. (24211141)
2013
6
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
7
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
8
Genotype-phenotype analysis in patients with giant axonal neuropathy. (18343115)
2008
9
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
10
Giant axonal neuropathy. (17256086)
2007
11
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (17578852)
2007
12
Giant axonal neuropathy: diffusion-weighted imaging features of the brain. (17005115)
2006
13
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
14
Giant axonal neuropathy. (15473179)
2004
15
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). (14718689)
2004
16
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
17
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. (12398836)
2002
18
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. (11971098)
2002
19
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
20
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. (11062483)
2000
21
Giant axonal neuropathy with subclinical involvement of the central nervous system: case report. (9702697)
1998
22
A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments. (9865543)
1998
23
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. (10732815)
1997
24
Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy. (8635201)
1996
25
Gingival biopsy in the diagnosis of giant axonal neuropathy. (7745548)
1995
26
Giant Axonal Neuropathy (20301315)
1993
27
Giant axonal neuropathy: report on a case with focal fiber loss. (1621511)
1992
28
Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. (1517757)
1992
29
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
30
Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments. (2015839)
1991
31
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
32
Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. (1703388)
1990
33
Giant axonal neuropathy: observations on a further patient. (2849642)
1988
34
Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. (3010802)
1986
35
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
36
Giant axonal neuropathy: acceleration of neurofilament transport in optic axons. (2579382)
1985
37
Immunocytochemical studies of intermediate filament aggregates and their relationship to microtubules in cultured skin fibroblasts from patients with giant axonal neuropathy. (6315439)
1983
38
Giant axonal neuropathy: an inborn error of organization of intermediate filaments. (6280044)
1982
39
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
40
Canine giant axonal neuropathy; some aspects of its clinical, pathological and comparative features. (7031366)
1981
41
Melanocytic involvement in giant axonal neuropathy. (6273462)
1981
42
Clinical progression of giant-axonal neuropathy over a twelve year period. (7326612)
1981
43
Further studies of the central nervous system in canine giant axonal neuropathy. (7453946)
1980
44
The central nervous system in canine giant axonal neuropathy. (223361)
1979
45
Generalized giant axonal neuropathy-a case with features of Fazio-Londe disease. (581901)
1979
46
Giant axonal neuropathy: a childhood disorder of microfilaments. (214018)
1977
47
Giant axonal neuropathy. Report of a case with normal hair. (190356)
1977
48
Giant axonal neuropathy. Involvement of peripheral nerve, myenteric plexus and extra-neuronal area. (199032)
1977
49
Giant axonal neuropathy -- a third case. (4377753)
1974
50
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. (5044004)
1972

Genetic Variations for Giant Axonal Neuropathy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Giant Axonal Neuropathy:

62 (show all 19)
id Symbol AA change Variation ID SNP ID
1GANp.Glu486LysVAR_010757
2GANp.Arg15SerVAR_010759
3GANp.Ser52GlyVAR_010760
4GANp.Ser79LeuVAR_010761
5GANp.Val82PheVAR_010762
6GANp.Arg138HisVAR_010763
7GANp.Arg269GlnVAR_010764
8GANp.Leu309ArgVAR_010765
9GANp.Arg545CysVAR_010766
10GANp.Cys570TyrVAR_010767
11GANp.Ile423ThrVAR_015560
12GANp.Ile86PheVAR_015680
13GANp.Gly368ArgVAR_015681
14GANp.Ala51ProVAR_054113
15GANp.Tyr89CysVAR_054114
16GANp.Val195PheVAR_054115
17GANp.Pro315LeuVAR_054116rs144486241
18GANp.Gly474ArgVAR_054117
19GANp.Arg545HisVAR_054118

Expression for genes affiliated with Giant Axonal Neuropathy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Giant Axonal Neuropathy

Search GEO for disease gene expression data for Giant Axonal Neuropathy.

Pathways for genes affiliated with Giant Axonal Neuropathy

About this section
Sources:
12EMD Millipore
See all sources

Pathways related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0TUBB, VIM
29.0TUBB, VIM

Compounds for genes affiliated with Giant Axonal Neuropathy

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 2BitterDB, 28IUPHAR, 24HMDB
See all sources

Compounds related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1fluorochrome449.7VIM, RPS27A
2n-(4-hydroxyphenyl)retinamide449.6RPS27A, VIM
3streptozotocin449.6VIM, RPS27A
4hematoxylin449.5VIM, RPS27A
5formate449.5TUBB, RPS27A
6malate449.4TUBB, RPS27A
7phalloidin449.4VIM, TUBB
8vinblastine44 49 1111.2TUBB, VIM
9colchicine59 44 2 28 1113.1TUBB, VIM
10nocodazole44 1110.0VIM, TUBB
11biotin44 11 2411.0VIM, RPS27A
12sodium dodecylsulfate449.0TUBB, RPS27A
13vincristine44 49 1111.0TUBB, VIM
14thymidylate448.9TUBB, VIM, RPS27A
15formaldehyde44 249.9TUBB, VIM, RPS27A
16valine448.9RPS27A, VIM, TUBB
17gaba448.9TUBB, VIM, RPS27A
18paraffin448.8TUBB, VIM, RPS27A
19glutamine448.8RPS27A, VIM, TUBB
20lysine448.8TUBB, VIM, RPS27A
21lactate448.8TUBB, VIM, RPS27A
22creatinine448.8TUBB, VIM, RPS27A
23adenylate448.7RPS27A, VIM, TUBB
24h2o2448.7RPS27A, VIM, TUBB
25testosterone44 59 11 2411.6TUBB, VIM, RPS27A

GO Terms for genes affiliated with Giant Axonal Neuropathy

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.0TUBB, VIM

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

idNameGO IDScoreTop Affiliating Genes
1cellular component movementGO:0069289.0TUBB, VIM

Molecular functions related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.1BAG3, TUBB
2structural constituent of cytoskeletonGO:0052008.7TUBB, VIM

Products for genes affiliated with Giant Axonal Neuropathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Giant Axonal Neuropathy

About this section
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