MCID: GNT009
MIFTS: 44

Giant Axonal Neuropathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Giant Axonal Neuropathy

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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

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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 giant axonal neuropathy 2, autosomal dominant and giant axonal neuropathy-1. 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

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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 94)
idRelated DiseaseScoreTop Affiliating Genes
1giant axonal neuropathy 2, autosomal dominant12.8
2giant axonal neuropathy-112.0
3leukemia10.3
4prostate cancer10.2
5breast cancer10.2
6gastric cancer10.2
7hepatitis10.2
8prostatitis10.2
9adenoma10.2
10myeloid leukemia10.2
11lupus erythematosus10.2
12hemangioendothelioma10.2
13colorectal cancer10.0
14systemic lupus erythematosus10.0
15lung cancer10.0
16ovarian hyperstimulation syndrome10.0
17hepatocellular carcinoma10.0
18asthma10.0
19bacteremia10.0
20chilblain lupus10.0
21alkaptonuria10.0
22hyperprolactinemia10.0
23keratitis10.0
24avascular necrosis of the femoral head10.0
25rubinstein-taybi syndrome10.0
26potocki-lupski syndrome10.0
27smith-magenis syndrome10.0
28right atrial isomerism10.0
29transient erythroblastopenia of childhood10.0
30creutzfeldt-jakob disease10.0
31kuru10.0
32b-cell lymphomas10.0
33cataract10.0
34diffuse large b-cell lymphoma10.0
35gas gangrene10.0
36liver disease10.0
37lymphomatoid granulomatosis10.0
38neutropenia10.0
39osteoarthritis10.0
40thrombocytopenia10.0
41cutaneous lupus erythematosus10.0
42biotin deficiency10.0
43oral squamous cell carcinoma10.0
44hepatocellular adenoma10.0
45lymphoma10.0
46blepharophimosis10.0
47cystinosis10.0
48choroiditis10.0
49superficial keratitis10.0
50pathological gambling10.0

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 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

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Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy22 GAN

Anatomical Context for Giant Axonal Neuropathy

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MalaCards organs/tissues related to Giant Axonal Neuropathy:

33
Brain, Spinal cord, Liver, Lung, Breast, Prostate, Endothelial

Animal Models for Giant Axonal Neuropathy or affiliated genes

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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

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Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Tobacco smoke induces production of chemokine CCL20 to promote lung cancer. (25864589)
2015
2
Pelvic pleomorphic rhabdomyosarcoma presenting as oliguria in a 61-year-old woman. (25880675)
2015
3
The interplay between the X-DING-CD4, IFN-I+ and IL-8 gene activity in quiescent and mitogen- or HIV-1-exposed PBMCs from HIV-1 elite controllers, AIDS progressors and HIV-negative controls. (23751822)
2014
4
Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program. (23462696)
2013
5
Plasma post-operative miR-21 expression in the prognosis of gastric cancers. (24460332)
2013
6
Diet-induced obesity increases tumor growth and promotes anaplastic change in thyroid cancer in a mouse model. (23748362)
2013
7
Serum carbohydrate deficient transferrin as a sensitive marker in diagnosing alcohol abuse: a case control study. (24392434)
2013
8
Guidelines for pediatric management of severe chronic neutropenia. (22237723)
2012
9
Endoscopic ablative therapy for Barrett's esophagus: a potential cause of eosinophilic esophagitis. (21668572)
2012
10
PINK1 cleavage at position A103 by the mitochondrial protease PARL. (21138942)
2011
11
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. (20157620)
2010
12
Putative tumour-suppressor gene DAB2 is frequently down regulated by promoter hypermethylation in nasopharyngeal carcinoma. (20525238)
2010
13
A prospective evaluation of emergency department bedside ultrasonography for the detection of acute cholecystitis. (20138397)
2010
14
Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer. (19100506)
2009
15
Expression of ERalpha, ERbeta and co-regulator PELP1/MNAR in colorectal cancer: prognostic significance and clinicopathologic correlations. (19478391)
2009
16
Induction of transglutaminase 2 by a liver X receptor/retinoic acid receptor alpha pathway increases the clearance of apoptotic cells by human macrophages. (19628791)
2009
17
Fibrinogen beta-chain tyrosine nitration is a prothrombotic risk factor. (18818200)
2008
18
Effect of FGF-2 on survivin and subcellular location of Smac in human small cell lung cancer cell NCI-H446]. (18772510)
2008
19
Serous papillary adenocarcinoma of the female genital organs and invasive micropapillary carcinoma of the breast. Are WT1, CA125, and GCDFP-15 useful in differential diagnosis? (18339419)
2008
20
Expression of orotate phosphoribosyl transferase in human pancreatic cancer: implication for the efficacy of uracil and tegafur-based adjuvant chemotherapy. (17549346)
2007
21
Pharmacokinetics and pharmacodynamics of glimepiride in type 2 diabetic patients: compared effects of once- versus twice-daily dosing. (17603225)
2007
22
Oncolytic replication-competent adenovirus suppresses tumor angiogenesis through preserved E1A region. (16179928)
2006
23
In-tandem insight from basic science combined with clinical research: CD38 as both marker and key component of the pathogenetic network underlying chronic lymphocytic leukemia. (16621959)
2006
24
Recent developments in the design of orally bioavailable beta3-adrenergic receptor agonists. (16457637)
2006
25
Idiopathic hypereosinophilic syndrome: a rare but fatal condition presenting with common symptoms. (16509562)
2006
26
Disseminated Bacille Calmette-GuAcrin disease as the initial presentation of X-linked severe combined immunodeficiency--a case report. (16572742)
2005
27
Hepatocyte growth factor, its receptor, and their potential value in cancer therapies. (15607934)
2005
28
Clinical significance of neutrophil CD177 mRNA expression in Ph-negative chronic myeloproliferative disorders. (15327515)
2004
29
Implication of prostaglandin E(2) in TNF-alpha-induced release of m-calpain from HCS-2/8 chondrocytes. Inhibition of m-calpain release by NSAIDs. (15501405)
2004
30
Bovine spongiform encephalopathy. (12793773)
2003
31
Localization of IFN-gamma-activated Stat1 and IFN regulatory factors 1 and 2 in breast cancer cells. (14651776)
2003
32
Differential binding mode of diverse cyclooxygenase inhibitors. (11885959)
2002
33
Identification of the protein C/activated protein C binding sites on the endothelial cell protein C receptor. Implications for a novel mode of ligand recognition by a major histocompatibility complex class 1-type receptor. (11099506)
2001
34
Massive cerebral infarction as a feature of pituitary apoplexy. (11447445)
2001
35
The AP-3 complex required for endosomal synaptic vesicle biogenesis is associated with a casein kinase Ialpha-like isoform. (10930456)
2000
36
Isovaleric acidemia with promyelocytic myeloproliferative syndrome. (10191353)
1999
37
Differential monocyte adhesion and adhesion molecule expression in venous and arterial endothelial cells. (9887050)
1999
38
Transient myeloproliferative disorder associated with trisomy 21: is a short course of chemotherapy indicated in patients with liver impairment and severe clinical problems? (10358708)
1999
39
Lens reconstruction after mature cataract in SCR rat. (10580657)
1999
40
Oral terbinafine in the treatment of griseofulvin-resistant Tinea capitis et faciei et corporis in a 10-month-old girl. (9689314)
1998
41
Efficacy of diclofenac in lateral epicondylitis of the elbow also treated with immobilization. The University of Montreal Orthopaedic Research Group. (9161352)
1997
42
Prevalence of peripheral arterial occlusive disease and associated risk factors in a sample of southern Sardinian population. (7822900)
1994
43
Serum protein polymorphisms (HP, TF-, GC- and PI subtypes) in two mountain communities of Sierra de Gredos (central Spain). (7662612)
1994
44
Biological markers of cancer. Critical study]. (8511115)
1993
45
Benign prostatic hyperplasia in a transgenic mouse: a new hormonally sensitive investigatory model. (7679760)
1993
46
Identification of a novel zinc finger protein binding a conserved element critical for Pit-1-dependent growth hormone gene expression. (8370519)
1993
47
Endothelium-derived relaxing factor inhibits thrombin-induced platelet aggregation by inhibiting platelet phospholipase C. (1309423)
1992
48
Insulin resistance in skeletal muscles in patients with NIDDM. (1559409)
1992
49
Fetus-specific expression of a form of cytochrome P-450 in human livers. (2350547)
1990
50
Efficacy of physiatric management of linear scleroderma. (4413188)
1974

Variations for Giant Axonal Neuropathy

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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
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

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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