MCID: GNT009
MIFTS: 45

Giant Axonal Neuropathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Giant Axonal Neuropathy

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Aliases & Descriptions for Giant Axonal Neuropathy:

Name: Giant Axonal Neuropathy 23 47 24 25 48
Neuropathy, Giant Axonal 47 26 49
Gan 47 24 25
 
Giant Axonal Neuropathy 1 47 67
Giant Axonal Disease 25
Gan1 47

Classifications:



Summaries for Giant Axonal Neuropathy

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Genetics Home Reference:25 Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons. Axons are specialized extensions of nerve cells (neurons) that transmit nerve impulses. Symptoms of the disorder first become apparent in the peripheral nervous system, in which long axons connect the brain and spinal cord (central nervous system) to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. However, axons in the central nervous system are affected as well.

MalaCards based summary: Giant Axonal Neuropathy, also known as neuropathy, giant axonal, is related to giant axonal neuropathy 2, autosomal dominant and giant axonal neuropathy-1, and has symptoms including neuralgia, neuralgia and pyramidal sign. An important gene associated with Giant Axonal Neuropathy is GAN (Gigaxonin), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include brain, spinal cord and skin, and related mouse phenotypes are muscle and behavior/neurological.

NINDS:48 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:70 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

GeneReviews for NBK1136

Related Diseases for Giant Axonal Neuropathy

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Graphical network of diseases related to Giant Axonal Neuropathy:



Diseases related to giant axonal neuropathy

Symptoms for Giant Axonal Neuropathy

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UMLS symptoms related to Giant Axonal Neuropathy:


neuralgia, pyramidal sign, facial paresis, gait, drop foot

Drugs & Therapeutics for Giant Axonal Neuropathy

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Drugs for Giant Axonal Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 151079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
2Lipid Regulating AgentsPhase 12702
3Hypolipidemic AgentsPhase 12721
4Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 11956
5AntimetabolitesPhase 111774
6Anticholesteremic AgentsPhase 11983

Interventional clinical trials:

idNameStatusNCT IDPhase
1Simvatstatin Used to Treat Pulmonary HypertensionUnknown statusNCT00538044Phase 1
2Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal NeuropathyRecruitingNCT02362438Phase 1
3Giant Axonal Neuropathy Natural History StudyActive, not recruitingNCT01503125

Search NIH Clinical Center for Giant Axonal Neuropathy

Genetic Tests for Giant Axonal Neuropathy

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Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy26 24 GAN

Anatomical Context for Giant Axonal Neuropathy

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MalaCards organs/tissues related to Giant Axonal Neuropathy:

35
Brain, Spinal cord, Skin, Globus pallidus, Endothelial, Testes, Bone

Animal Models for Giant Axonal Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2ACTG1, ARHGEF1, ARHGEF12, BAG3, GAN, VIM
2MP:00053867.7ACTG1, ALMS1, BAG3, BCLAF1, GAN, MAP1B

Publications for Giant Axonal Neuropathy

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Articles related to Giant Axonal Neuropathy:

(show top 49)    (show all 124)
idTitleAuthorsYear
1
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. (26700320)
2016
2
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). (26330398)
2015
3
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
4
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
5
Giant axonal neuropathy: a clinicoradiopathologic diagnosis. (24590247)
2014
6
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy. (26693541)
2014
7
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
8
Explaining intermediate filament accumulation in giant axonal neuropathy. (25003002)
2013
9
Giant axonal neuropathy. (23931822)
2013
10
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. (21356581)
2012
11
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
12
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
13
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
14
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
15
Genotype-phenotype analysis in patients with giant axonal neuropathy. (18343115)
2008
16
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
17
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (17578852)
2007
18
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
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
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
22
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
23
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
24
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
25
Giant axonal neuropathy: report on a case with focal fiber loss. (1621511)
1992
26
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
27
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
28
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
29
Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. (1703388)
1990
30
Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. (3204412)
1988
31
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
32
Giant axonal neuropathy. A neuropathological study. (3604581)
1987
33
Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. (3631924)
1987
34
Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. (3010802)
1986
35
Congenital giant axonal neuropathy. (2990373)
1985
36
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
37
Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization. (3880753)
1985
38
Canine giant axonal neuropathy; some aspects of its clinical, pathological and comparative features. (7031366)
1981
39
Melanocytic involvement in giant axonal neuropathy. (6273462)
1981
40
Clinical progression of giant-axonal neuropathy over a twelve year period. (7326612)
1981
41
Giant axonal neuropathy: visual and oculomotor deficits. (7192592)
1980
42
The central nervous system in canine giant axonal neuropathy. (223361)
1979
43
Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related? (575280)
1979
44
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977
45
Giant axonal neuropathy: a childhood disorder of microfilaments. (214018)
1977
46
Canine giant axonal neuropathy. (595296)
1977
47
Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system. (168514)
1975
48
Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. (4153361)
1974
49
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. (5044004)
1972

Variations for Giant Axonal Neuropathy

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Clinvar genetic disease variations for Giant Axonal Neuropathy:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1GANNM_022041.3(GAN): c.944C> T (p.Pro315Leu)SNVPathogenicrs144486241GRCh38Chr 16, 81357902: 81357902
2GANNM_022041.3(GAN): c.851+1G> ASNVPathogenicrs747291494GRCh38Chr 16, 81357003: 81357003
3GANNM_022041.3(GAN): c.1456G> A (p.Glu486Lys)SNVPathogenicrs119485088GRCh37Chr 16, 81399037: 81399037
4GANNM_022041.3(GAN): c.1447C> T (p.Gln483Ter)SNVPathogenicrs119485089GRCh37Chr 16, 81399028: 81399028
5GANGAN, 1-BP INS, 18AinsertionPathogenicChr na, -1: -1
6GANNM_022041.3(GAN): c.601C> T (p.Arg201Ter)SNVPathogenicrs119485090GRCh37Chr 16, 81388328: 81388328
7GANNM_022041.3(GAN): c.1268T> C (p.Ile423Thr)SNVPathogenicrs119485091GRCh37Chr 16, 81398610: 81398610
8GANNM_022041.3(GAN): c.413G> A (p.Arg138His)SNVPathogenicrs119485092GRCh37Chr 16, 81388140: 81388140
9GANNM_022041.3(GAN): c.43C> A (p.Arg15Ser)SNVPathogenicrs119485093GRCh37Chr 16, 81348761: 81348761
10GANNM_022041.3(GAN): c.1429C> T (p.Arg477Ter)SNVPathogenicrs119485094GRCh37Chr 16, 81399010: 81399010
11GANNM_022041.3(GAN): c.505G> A (p.Glu169Lys)SNVPathogenicrs119485095GRCh37Chr 16, 81388232: 81388232

Expression for genes affiliated with Giant Axonal Neuropathy

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

Pathways for genes affiliated with Giant Axonal Neuropathy

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GO Terms for genes affiliated with Giant Axonal Neuropathy

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Cellular components related to Giant Axonal Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.0ACTG1, GAN, MIR4720, TUBB, VIM
2cytosolGO:00058296.2ACTG1, ALMS1, ARHGEF1, ARHGEF12, BAG3, MAP1B
3cytoplasmGO:00057376.1ALMS1, ARHGEF1, ARHGEF12, BAG3, BCLAF1, DCAF8

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

idNameGO IDScoreTop Affiliating Genes
1cellular processGO:000998710.0MAP1B, TUBB
2movement of cell or subcellular componentGO:00069289.4ACTG1, TUBB, VIM
3protein ubiquitinationGO:00165678.9DCAF8, GAN, MIR4720, RNF213

Molecular functions related to Giant Axonal Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:000519810.2MAP1B, TUBB, VIM
2structural constituent of cytoskeletonGO:00052009.8ACTG1, TUBB, VIM
3protein bindingGO:00055155.6ACTG1, ALMS1, ARHGEF1, ARHGEF12, BAG3, BCLAF1

Sources for Giant Axonal Neuropathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet