GAN
MCID: GNT009
MIFTS: 55

Giant Axonal Neuropathy (GAN) malady

Neuronal diseases category

Summaries for Giant Axonal Neuropathy

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Sources:
21Genetics Home Reference, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 marrow and bone.

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

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

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Giant Axonal Neuropathy:



Diseases related to giant axonal neuropathy

Clinical Features for Giant Axonal Neuropathy

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46OMIM
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Clinical features from OMIM:

256850

Clinical synopsis from OMIM:

256850

Drugs & Therapeutics for Giant Axonal Neuropathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy20 22 GAN

Anatomical Context for Giant Axonal Neuropathy

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32MalaCards
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MalaCards organs/tissues related to Giant Axonal Neuropathy:

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

Animal Models for Giant Axonal Neuropathy or affiliated genes

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Publications for Giant Axonal Neuropathy

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50PubMed
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Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. (23585478)
2013
2
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. (23316953)
2013
3
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
4
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. (22806374)
2012
5
BAG3 mutations: another cause of giant axonal neuropathy. (22734908)
2012
6
Giant axonal neuropathy: a pictorial essay and review of literature. (24148344)
2010
7
Application of autologous bone marrow stem cells in giant axonal neuropathy. (22301809)
2010
8
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
9
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
10
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
11
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
12
3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy. (18581347)
2008
13
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
14
Giant axonal neuropathy: clinical and genetic study in six cases. (15897506)
2005
15
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
16
Giant axonal neuropathy and anaesthesia. (12790832)
2003
17
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. (12668605)
2003
18
Giant axonal neuropathy: MRS findings. (14569833)
2003
19
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. (11971098)
2002
20
The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case. (11594505)
2001
21
Giant axonal neuropathy locus refinement to a &lt; 590 kb critical interval. (10909853)
2000
22
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. (11062483)
2000
23
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
24
Giant axonal neuropathy in a child with insulin-dependent diabetes mellitus. (7642902)
1995
25
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
26
Axonal neurofilamentous accumulations: a comparison between human and canine giant axonal neuropathy and 2,5-HD neuropathy. (8355809)
1993
27
Giant axonal neuropathy. (8413997)
1993
28
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
29
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
30
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
31
Giant axonal neuropathy. A review. (2549797)
1989
32
Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. (3204412)
1988
33
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
34
Giant axonal neuropathy. A neuropathological study. (3604581)
1987
35
Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. (3631924)
1987
36
Childhood giant axonal neuropathy. Case report and review of the literature. (2831308)
1987
37
Congenital giant axonal neuropathy. (2990373)
1985
38
Immunohistochemical study of cultured skin fibroblasts from giant axonal neuropathy. Pathology of the intermediate filament protein. (4061148)
1985
39
Giant axonal neuropathy: normal protein composition of neurofilaments. (6410005)
1983
40
Clinical progression of giant-axonal neuropathy over a twelve year period. (7326612)
1981
41
Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. (6801537)
1981
42
Giant axonal neuropathy: visual and oculomotor deficits. (7192592)
1980
43
The central nervous system in canine giant axonal neuropathy. (223361)
1979
44
Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related? (575280)
1979
45
Peripheral nervous system in a case of canine giant axonal neuropathy. (219382)
1979
46
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977
47
Canine giant axonal neuropathy. (595296)
1977
48
Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system. (168514)
1975
49
Giant axonal neuropathy -- a third case. (4377753)
1974
50
Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. (4153361)
1974

Genetic Variations for Giant Axonal Neuropathy

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Giant Axonal Neuropathy

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Pathways for genes affiliated with Giant Axonal Neuropathy

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12EMD Millipore
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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

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 2BitterDB, 28IUPHAR, 24HMDB
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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

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16Gene Ontology
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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

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  • Antibodies
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Sources for Giant 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet