GAN
MCID: GNT009
MIFTS: 55

Giant Axonal Neuropathy (GAN) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Giant Axonal Neuropathy

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22Genetics Home Reference, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 neuroaxonal dystrophy and axonal neuropathy. An important gene associated with Giant Axonal Neuropathy is GAN (gigaxonin), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cytoplasmic microtubules. The compounds formate and malate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related mouse phenotype muscle.

NINDS:45 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:66 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

Description from OMIM:48 256850

GeneReviews summary for gan

Aliases & Classifications for Giant Axonal Neuropathy

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20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 50Orphanet, 63UMLS, 21GeneTests, 23GTR, 46Novoseek, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
giant axonal neuropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

giant axonal neuropathy 20 44 22 45 50
neuropathy, giant axonal 44 21 23 22 46
giant axonal neuropathy 1 44 63
gan 44 22
giant axonal neuropathy-1 48
gan1 44


External Ids:

MESH via Orphanet37 D056768
ICD10 via Orphanet27 G60.8
SNOMED-CT via Orphanet60 128207002
OMIM48 256850

Related Diseases for Giant Axonal Neuropathy

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Giant Axonal Neuropathy:



Diseases related to giant axonal neuropathy

Symptoms for Giant Axonal Neuropathy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

256850

Clinical features from OMIM:

256850

Drugs & Therapeutics for Giant Axonal Neuropathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy21 23 GAN

Anatomical Context for Giant Axonal Neuropathy

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34MalaCards
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MalaCards organs/tissues related to Giant Axonal Neuropathy:

34
Skin, Brain, Bone, Bone marrow, Endothelial, Globus pallidus

Animal Models for Giant Axonal Neuropathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7GAN, BAG3, VIM

Publications for Giant Axonal Neuropathy

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53PubMed
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Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 104)
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-associated gigaxonin mutations impair intermediate filament protein degradation. (23585478)
2013
5
Giant axonal neuropathy. (23931822)
2013
6
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
7
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. (21356581)
2012
8
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
9
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
10
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
11
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
12
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
13
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
14
Giant axonal neuropathy. (17256086)
2007
15
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
16
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
17
Giant axonal neuropathy and anaesthesia. (12790832)
2003
18
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. (12398836)
2002
19
The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case. (11594505)
2001
20
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
21
Giant axonal neuropathy locus refinement to a &lt; 590 kb critical interval. (10909853)
2000
22
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
23
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. (10732815)
1997
24
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
25
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
26
Giant axonal neuropathy: progressive clinical and radiologic CNS involvement. (1436544)
1992
27
Giant axonal neuropathy: report on a case with focal fiber loss. (1621511)
1992
28
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
29
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
30
Giant axonal neuropathy: studies with sulfhydryl donor compounds. (2324766)
1990
31
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
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: central abnormalities demonstrated by evoked potentials. (3010802)
1986
36
Congenital giant axonal neuropathy. (2990373)
1985
37
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
38
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
39
Canine giant axonal neuropathy; some aspects of its clinical, pathological and comparative features. (7031366)
1981
40
Melanocytic involvement in giant axonal neuropathy. (6273462)
1981
41
Clinical progression of giant-axonal neuropathy over a twelve year period. (7326612)
1981
42
Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. (6801537)
1981
43
Giant axonal neuropathy: combined central and peripheral nervous system disease. (217319)
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
Giant axonal neuropathy: a childhood disorder of microfilaments. (214018)
1977
48
Giant axonal neuropathy -- a third case. (4377753)
1974
49
Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. (4153361)
1974
50
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. (5044004)
1972

Variations for Giant Axonal Neuropathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Giant Axonal Neuropathy:

65 (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

Clinvar genetic disease variations for Giant Axonal Neuropathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1GANNM_022041.3(GAN): c.1456G> A (p.Glu486Lys)single nucleotide variantPathogenicrs119485088GRCh37Chr 16, 81399037: 81399037
2GANNM_022041.3(GAN): c.1447C> T (p.Gln483Ter)single nucleotide variantPathogenicrs119485089GRCh37Chr 16, 81399028: 81399028
3GANGAN, 1-BP INS, 18AinsertionPathogenic
4GANNM_022041.3(GAN): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs119485090GRCh37Chr 16, 81388328: 81388328
5GANNM_022041.3(GAN): c.1268T> C (p.Ile423Thr)single nucleotide variantPathogenicrs119485091GRCh37Chr 16, 81398610: 81398610
6GANNM_022041.3(GAN): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs119485092GRCh37Chr 16, 81388140: 81388140
7GANNM_022041.3(GAN): c.43C> A (p.Arg15Ser)single nucleotide variantPathogenicrs119485093GRCh37Chr 16, 81348761: 81348761
8GANNM_022041.3(GAN): c.1429C> T (p.Arg477Ter)single nucleotide variantPathogenicrs119485094GRCh37Chr 16, 81399010: 81399010
9GANNM_022041.3(GAN): c.505G> A (p.Glu169Lys)single nucleotide variantPathogenicrs119485095GRCh37Chr 16, 81388232: 81388232

Expression for genes affiliated with Giant Axonal Neuropathy

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 13EMD Millipore, 61Thomson Reuters
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Pathways related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3RPS27A, TUBB
2
Show member pathways
Cytoskeleton remodeling Neurofilaments61
9.1VIM, TUBB
39.1VIM, TUBB

Compounds for genes affiliated with Giant Axonal Neuropathy

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 3BitterDB, 30IUPHAR, 25HMDB
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Compounds related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1formate469.7RPS27A, TUBB
2malate469.7RPS27A, TUBB
3sodium dodecylsulfate469.6RPS27A, TUBB
4phalloidin469.5VIM, TUBB
5vinblastine46 52 1211.4VIM, TUBB
6colchicine46 62 3 30 1213.4VIM, TUBB
7fluorochrome469.4RPS27A, VIM
8nocodazole46 1210.4TUBB, VIM
9carbon469.4RPS27A, TUBB
10n-(4-hydroxyphenyl)retinamide469.4VIM, RPS27A
11streptozotocin469.4RPS27A, VIM
12hematoxylin469.4RPS27A, VIM
13vincristine46 52 1211.4TUBB, VIM
14bromodeoxyuridine469.3TUBB, VIM
15biotin46 25 1211.3RPS27A, VIM
16okadaic acid46 6210.1VIM, TUBB
175-aza-2deoxycytidine469.0RPS27A, VIM
18glycerol46 25 1211.0RPS27A, TUBB
19gdp469.0TUBB, VIM
20thymidylate468.9RPS27A, VIM, TUBB
21formaldehyde46 259.9TUBB, VIM, RPS27A
22valine468.9RPS27A, VIM, TUBB
23gaba468.9TUBB, VIM, RPS27A
24paraffin468.9TUBB, VIM, RPS27A
25glutamine468.9TUBB, VIM, RPS27A
26lysine468.9RPS27A, VIM, TUBB
27lactate468.9TUBB, VIM, RPS27A
28creatinine468.9RPS27A, VIM, TUBB
29adenylate468.9RPS27A, VIM, TUBB
30h2o2468.8TUBB, VIM, RPS27A
31testosterone46 62 25 1211.8TUBB, VIM, RPS27A
32glutamate468.8RPS27A, VIM, TUBB
33alanine468.8TUBB, VIM, RPS27A
34estrogen468.7RPS27A, VIM, TUBB
35atp46 309.7RPS27A, VIM, TUBB
36cysteine468.6TUBB, VIM, RPS27A

GO Terms for genes affiliated with Giant Axonal Neuropathy

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17Gene Ontology
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Cellular components related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:0058568.4GAN, VIM, TUBB
2cytosolGO:0058298.0BAG3, RPS27A, VIM, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1G2/M transition of mitotic cell cycleGO:0000869.3RPS27A, TUBB
2cellular component movementGO:0069288.8VIM, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.4BAG3, TUBB
2structural constituent of cytoskeletonGO:0052008.8VIM, TUBB

Products for genes affiliated with Giant Axonal Neuropathy

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Sources for Giant Axonal Neuropathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet