MCID: GNT009
MIFTS: 43

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 22 46 23 24 47
Neuropathy, Giant Axonal 46 25 48
Gan 46 23 24
 
Giant Axonal Neuropathy 1 46 66
Giant Axonal Disease 24
Gan1 46

Classifications:



Summaries for Giant Axonal Neuropathy

About this section
NIH Rare Diseases:46 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 phenotype muscle.

Genetics Home Reference:24 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. The giant axons occur in the peripheral nervous system, which connects 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 can be affected as well.

NINDS:47 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:69 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:


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

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
SimvastatinPhase 150379902-63-954454
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

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 Neuropathy25 23 GAN

Anatomical Context for Giant Axonal Neuropathy

About this section

MalaCards organs/tissues related to Giant Axonal Neuropathy:

34
Brain, Spinal cord, Skin, Globus pallidus, Endothelial, Testes, Bone

Animal Models for Giant Axonal Neuropathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ACTG1, ARHGEF1, ARHGEF12, BAG3, GAN, VIM

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
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
Giant axonal neuropathy: a pictorial essay and review of literature. (24148344)
2010
13
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
14
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
15
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
16
Genotype-phenotype analysis in patients with giant axonal neuropathy. (18343115)
2008
17
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
18
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. (17578852)
2007
19
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
20
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. (11971098)
2002
21
The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case. (11594505)
2001
22
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
23
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
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: report on a case with focal fiber loss. (1621511)
1992
27
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
28
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
29
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
30
Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. (1703388)
1990
31
Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. (3204412)
1988
32
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
33
Giant axonal neuropathy. A neuropathological study. (3604581)
1987
34
Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. (3631924)
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: a conditional mutation affecting cytoskeletal organization. (3880753)
1985
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: 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
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977
46
Giant axonal neuropathy: a childhood disorder of microfilaments. (214018)
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 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

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
1cytoskeletonGO:00058569.3ACTG1, GAN, MIR4720, TUBB, VIM
2extracellular matrixGO:00310129.3ACTG1, RPS5, TUBB, VIM
3cytoplasmGO:00057376.9ALMS1, ARHGEF1, ARHGEF12, BAG3, BCLAF1, DCAF8
4cytosolGO:00058296.3ACTG1, ALMS1, ARHGEF1, ARHGEF12, BAG3, RNF213

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

idNameGO IDScoreTop Affiliating Genes
1movement of cell or subcellular componentGO:00069289.4ACTG1, TUBB, VIM
2protein ubiquitinationGO:00165679.3DCAF8, GAN, MIR4720, RNF213

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.9ACTG1, TUBB, VIM
2protein bindingGO:00055155.3ACTG1, ALMS1, ARHGEF1, ARHGEF12, BAG3, BCLAF1

Sources for Giant Axonal Neuropathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet