MCID: GNT009
MIFTS: 48

Giant Axonal Neuropathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Giant Axonal Neuropathy

About this section
Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 51Orphanet, 65UMLS, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Giant Axonal Neuropathy:

Name: Giant Axonal Neuropathy 21 45 22 23 46 51
Neuropathy, Giant Axonal 45 23 47 24
Gan 45 22 23
 
Giant Axonal Neuropathy 1 45 65
Gan1 45

Characteristics:

Orphanet epidemiological data:

51
giant axonal neuropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 643
ICD10 via Orphanet28 G60.8
MESH via Orphanet37 D056768
UMLS65 C1850386

Summaries for Giant Axonal Neuropathy

About this section
NIH Rare Diseases:45 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 gait, drop foot, gait, drop foot and facial paresis. 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 Platelet activation. Affiliated tissues include brain, spinal cord and liver, and related mouse phenotype muscle.

Genetics Home Reference:23 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.

NINDS:46 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:68 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

GeneReviews summary 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 for Giant Axonal Neuropathy

About this section

UMLS symptoms related to Giant Axonal Neuropathy:


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

Drugs & Therapeutics for Giant Axonal Neuropathy

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 149379902-63-954454
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
2Hypolipidemic AgentsPhase 12228
3Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 11804
4AntimetabolitesPhase 19454
5Anticholesteremic AgentsPhase 11732

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal NeuropathyRecruitingNCT02362438Phase 1
2Simvatstatin Used to Treat Pulmonary HypertensionNot yet recruitingNCT00538044Phase 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 Neuropathy22 GAN

Anatomical Context for Giant Axonal Neuropathy

About this section

MalaCards organs/tissues related to Giant Axonal Neuropathy:

33
Brain, Spinal cord, Liver, Prostate, Lung, Breast, B cells

Animal Models for Giant Axonal Neuropathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6ACTG1, ARHGEF1, ARHGEF12, CACNA1H, GAN, VIM

Publications for Giant Axonal Neuropathy

About this section

Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 122)
idTitleAuthorsYear
1
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. (26700320)
2016
2
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (26460568)
2015
3
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). (26330398)
2015
4
Giant Axonal Neuropathy. (25213662)
2014
5
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
6
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
7
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
8
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
9
Explaining intermediate filament accumulation in giant axonal neuropathy. (25003002)
2013
10
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. (23332420)
2013
11
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. (23585478)
2013
12
Giant axonal neuropathy. (23931822)
2013
13
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
14
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. (21356581)
2012
15
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
16
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
17
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
18
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
19
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
20
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
21
Giant axonal neuropathy. (17256086)
2007
22
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
23
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
24
Giant axonal neuropathy and anaesthesia. (12790832)
2003
25
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. (12398836)
2002
26
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
27
Giant axonal neuropathy locus refinement to a &lt; 590 kb critical interval. (10909853)
2000
28
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
29
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. (10732815)
1997
30
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
31
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
32
Giant axonal neuropathy: progressive clinical and radiologic CNS involvement. (1436544)
1992
33
Giant axonal neuropathy: report on a case with focal fiber loss. (1621511)
1992
34
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
35
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
36
Giant axonal neuropathy: studies with sulfhydryl donor compounds. (2324766)
1990
37
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
38
Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. (3204412)
1988
39
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
40
Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. (3010802)
1986
41
Congenital giant axonal neuropathy. (2990373)
1985
42
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
43
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
44
Canine giant axonal neuropathy; some aspects of its clinical, pathological and comparative features. (7031366)
1981
45
Melanocytic involvement in giant axonal neuropathy. (6273462)
1981
46
Giant axonal neuropathy: combined central and peripheral nervous system disease. (217319)
1979
47
The central nervous system in canine giant axonal neuropathy. (223361)
1979
48
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977
49
Giant axonal neuropathy: a childhood disorder of microfilaments. (214018)
1977
50
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. (5044004)
1972

Variations for Giant Axonal Neuropathy

About this section

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
1membraneGO:00160207.3ACTG1, CACNA1H, RPL4, RPL8, RPS13, RPS8

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1movement of cell or subcellular componentGO:000692810.1ACTG1, VIM
2translational terminationGO:00064159.2RPL4, RPL8, RPS13
3SRP-dependent cotranslational protein targeting to membraneGO:00066148.4RPL4, RPL8, RPS13, RPS8
4translational initiationGO:00064138.4RPL4, RPL8, RPS13, RPS8
5viral life cycleGO:00190588.0RPL4, RPL8, RPS13, RPS8
6rRNA processingGO:00063648.0RPL4, RPL8, RPS13, RPS8
7viral processGO:00160327.7RPL4, RPL8, RPS13, RPS8

Sources for Giant Axonal Neuropathy

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet