MCID: GNT009
MIFTS: 39

Giant Axonal Neuropathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Giant Axonal Neuropathy

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

Aliases & Descriptions for Giant Axonal Neuropathy:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

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

Summaries for Giant Axonal Neuropathy

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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 axonal neuropathy and neuropathy. An important gene associated with Giant Axonal Neuropathy is GAN (Gigaxonin), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include brain, spinal cord and bone.

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 gan

Related Diseases for Giant Axonal Neuropathy

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Diseases in the Giant Axonal Neuropathy family:

Giant Axonal Neuropathy 2, Autosomal Dominant Giant Axonal Neuropathy-1

Diseases related to Giant Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1axonal neuropathy11.2
2neuropathy11.2
3giant axonal neuropathy-110.6
4giant axonal neuropathy 2, autosomal dominant10.5
5neuronitis10.5
6peripheral nervous system disease10.4
7peripheral neuropathy10.4
8roussy-levy syndrome10.3
9charcot-marie-tooth disease10.3
10muscle disorders10.3
11skin disease10.3
12neuroaxonal dystrophy10.3
13sensory peripheral neuropathy10.3
14motor peripheral neuropathy10.3
15critical illness polyneuropathy10.3
16congenital nervous system abnormality10.3
17hereditary sensory neuropathy10.3
18motor neuritis10.3
19muscle tissue disease10.3
20myopathy10.3
21nerve compression syndrome10.3
22nervous system disease10.3
23neuromuscular disease10.3
24polyneuropathy10.3
25genetic brain disorders10.3
26neurologic diseases10.3
27charcot-marie-tooth hereditary neuropathy10.3
28hereditary neuropathy with liability to pressure palsy10.3
29hereditary peripheral nervous disorder10.3
30charcot-marie-tooth neuropathy10.3
31hereditary neuropathies10.3
32stroke, ischemic10.2
33anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
34coronary heart disease 510.2
35coronary heart disease 910.2
36pick disease10.2
37cardiac conduction defect10.2
38fazio-londe disease10.2
39foster-kennedy syndrome10.2
40polyneuropathy due to drug10.2
41cerebritis10.2
42auditory system disease10.2
43blood protein disease10.2
44congenital heart disease10.2
45eating disorder10.2
46gingivitis10.2
47globe disease10.2
48leukodystrophy10.2
49optic nerve disease10.2
50respiratory system disease10.2

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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Drugs & Therapeutics for Giant Axonal Neuropathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 148279902-63-954454
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

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Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy22 24 GAN

Anatomical Context for Giant Axonal Neuropathy

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MalaCards organs/tissues related to Giant Axonal Neuropathy:

33
Brain, Spinal cord, Bone, Skin, Globus pallidus, Endothelial, Testes

Animal Models for Giant Axonal Neuropathy or affiliated genes

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Publications for Giant Axonal Neuropathy

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Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (26460568)
2015
2
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). (26330398)
2015
3
Giant Axonal Neuropathy. (25213662)
2014
4
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
5
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
6
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
7
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. (25040701)
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

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Clinvar genetic disease variations for Giant Axonal Neuropathy:

5
id Gene Variation 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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Search GEO for disease gene expression data for Giant Axonal Neuropathy.

Pathways for genes affiliated with Giant Axonal Neuropathy

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Pathways related to Giant Axonal Neuropathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4TUBB, VIM

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:00058569.0GAN, TUBB, VIM

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

idNameGO IDScoreTop Affiliating Genes
1cellular processGO:00099879.4MAP1B, TUBB
2movement of cell or subcellular componentGO:00069289.4TUBB, VIM

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.4TUBB, VIM
2structural molecule activityGO:00051988.5MAP1B, TUBB, VIM

Sources for Giant Axonal Neuropathy

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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