MCID: GNT009
MIFTS: 45

Giant Axonal Neuropathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Giant Axonal Neuropathy

About this section

Aliases & Descriptions for Giant Axonal Neuropathy:

Name: Giant Axonal Neuropathy 23 48 24 25 49
Neuropathy, Giant Axonal 48 27 50
Gan 48 24 25
 
Giant Axonal Neuropathy 1 48 68
Giant Axonal Disease 25
Gan1 48

Classifications:



Summaries for Giant Axonal Neuropathy

About this section
NIH Rare Diseases:48 Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures. Giant axonal neuropathy is caused by mutations in the GAN gene. It follows and autosomal dominant pattern of inheritance. Management is directed by a multidisciplinary team with the goal of optimizing intellectual and physical development. Last updated: 6/18/2015

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.

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.

NINDS:49 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:71 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

GeneReviews for NBK1136

Related Diseases for Giant Axonal Neuropathy

About this section

Graphical network of diseases related to Giant Axonal Neuropathy:



Diseases related to giant axonal neuropathy

Symptoms & Phenotypes for Giant Axonal Neuropathy

About this section

UMLS symptoms related to Giant Axonal Neuropathy:


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

MGI Mouse Phenotypes related to Giant Axonal Neuropathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2ACTG1, ARHGEF1, ARHGEF12, BAG3, GAN, VIM
2MP:00053867.7ACTG1, ALMS1, BAG3, BCLAF1, GAN, MAP1B

Drugs & Therapeutics for Giant Axonal Neuropathy

About this section

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

About this section

Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy27 24 GAN

Anatomical Context for Giant Axonal Neuropathy

About this section

MalaCards organs/tissues related to Giant Axonal Neuropathy:

36
Brain, Spinal cord, Skin, Globus pallidus, Endothelial, Testes, Bone

Publications for Giant Axonal Neuropathy

About this section

Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. (26700320)
2016
2
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. (27023907)
2016
3
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. (27000625)
2016
4
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. (27369358)
2016
5
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). (26330398)
2015
6
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (26460568)
2015
7
A mild case of giant axonal neuropathy without central nervous system manifestation. (26381321)
2015
8
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
9
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
10
Giant axonal neuropathy: a clinicoradiopathologic diagnosis. (24590247)
2014
11
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy. (26693541)
2014
12
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. (25398950)
2014
13
Giant Axonal Neuropathy. (25213662)
2014
14
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
15
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. (25040701)
2014
16
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. (24758703)
2014
17
Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design. (25186661)
2014
18
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. (24860645)
2014
19
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
20
Explaining intermediate filament accumulation in giant axonal neuropathy. (25003002)
2013
21
Giant axonal neuropathy. (23931822)
2013
22
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. (23248352)
2013
23
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. (23332420)
2013
24
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. (23585478)
2013
25
Giant axonal neuropathy diagnosed on skin biopsy. (24211141)
2013
26
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. (23316953)
2013
27
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. (21356581)
2012
28
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
29
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. (22806374)
2012
30
BAG3 mutations: another cause of giant axonal neuropathy. (22734908)
2012
31
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
32
Giant axonal neuropathy: a pictorial essay and review of literature. (24148344)
2010
33
Application of autologous bone marrow stem cells in giant axonal neuropathy. (22301809)
2010
34
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
35
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
36
Phenotypic variability in giant axonal neuropathy. (19231187)
2009
37
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
38
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
39
Genotype-phenotype analysis in patients with giant axonal neuropathy. (18343115)
2008
40
3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy. (18581347)
2008
41
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
42
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (17578852)
2007
43
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). (17587580)
2007
44
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
45
Giant axonal neuropathy. (17256086)
2007
46
Giant axonal neuropathy: diffusion-weighted imaging features of the brain. (17005115)
2006
47
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
48
Giant axonal neuropathy: clinical and genetic study in six cases. (15897506)
2005
49
Giant axonal neuropathy. (15473179)
2004
50
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). (14718689)
2004

Variations for Giant Axonal Neuropathy

About this section

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

About this section
Search GEO for disease gene expression data for Giant Axonal Neuropathy.

Pathways for genes affiliated with Giant Axonal Neuropathy

About this section

GO Terms for genes affiliated with Giant Axonal Neuropathy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.6ACTG1, GAN, MIR4720, TUBB, VIM
2cytoplasmGO:00057376.9ALMS1, ARHGEF1, ARHGEF12, BAG3, BCLAF1, DCAF8
3cytosolGO:00058296.2ACTG1, ALMS1, ARHGEF1, ARHGEF12, BAG3, MAP1B

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

idNameGO IDScoreTop Affiliating Genes
1cellular processGO:000998710.5MAP1B, TUBB
2movement of cell or subcellular componentGO:000692810.0ACTG1, 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 constituent of cytoskeletonGO:000520010.0ACTG1, TUBB, VIM
2structural molecule activityGO:00051989.6MAP1B, TUBB, VIM
3protein bindingGO:00055156.2ACTG1, ALMS1, ARHGEF1, ARHGEF12, BAG3, BCLAF1

Sources for Giant Axonal Neuropathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet