GAN
MCID: GNT009
MIFTS: 52

Giant Axonal Neuropathy (GAN)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Giant Axonal Neuropathy

MalaCards integrated aliases for Giant Axonal Neuropathy:

Name: Giant Axonal Neuropathy 25 54 26 55 38 30 6
Giant Axonal Neuropathy 1 54 74
Neuropathy, Giant Axonal 54 56
Gan 54 26
Giant Axonal Disease 26
Gan1 54

Classifications:



Summaries for Giant Axonal Neuropathy

NINDS : 55 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.  The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age.  Signs of GAN usually begin in the peripheral nervous system, which controls movement and sensation in the arms, legs, and other parts of the body.  The typical symptoms of GAN are clumsiness and muscle weakness that progresses from a “waddling gait” to a pronounced difficulty in walking.  Additional symptoms include numbness or lack of feeling in the arms and legs, seizures, nystagmus (rapid back and forth movement of the eyes), and impaired cognitive development.  A characteristic sign of the disease is dull, tightly curled hair that is markedly different from the parents’ in color and texture. Researchers have discovered more than 20 different mutations associated with GAN in a gene, GAN1, which makes a protein called gigaxonin.   These mutations disrupt the regulation or production of gigaxonin in the nervous system.  As a result, axons, which are the long tails of neurons that allow them to communicate with other nerve cells, swell up with tangled filaments and become abnormally large.  Eventually these axons deteriorate and cause problems with movement and sensation since neurons are no longer able to communicate with each other.  Doctors diagnose GAN by using several tests, including one that measures nerve conduction velocity, a brain MRI, and a peripheral nerve biopsy (in which a bit of tissue from a peripheral nerve is removed and examined to look for swollen axons).  A definitive diagnosis using genetic testing is available on a research basis only.  GAN is inherited in an autosomal recessive pattern, which means that both parents of a child with GAN have to carry a copy of the mutated gene.   Parents, typically, will show no signs of the disease. 

MalaCards based summary : Giant Axonal Neuropathy, also known as giant axonal neuropathy 1, is related to giant axonal neuropathy 2 and giant axonal neuropathy 1, autosomal recessive, and has symptoms including abnormal pyramidal signs, neuralgia and facial paresis. An important gene associated with Giant Axonal Neuropathy is GAN (Gigaxonin), and among its related pathways/superpathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Influenza Viral RNA Transcription and Replication. The drugs Simvastatin and Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes, and related phenotypes are joint hypermobility and areflexia

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

Wikipedia : 77 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

GeneReviews: NBK1136

Related Diseases for Giant Axonal Neuropathy

Diseases in the Giant Axonal Neuropathy family:

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

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2 33.8 DCAF8 GAN
2 giant axonal neuropathy 1, autosomal recessive 12.8
3 giant axonal neuropathy 2, autosomal dominant 12.6
4 charcot-marie-tooth disease 11.5
5 charcot-marie-tooth disease, axonal, type 2e 11.3
6 charcot-marie-tooth disease and deafness 11.1
7 retinitis pigmentosa 11.1
8 charcot-marie-tooth disease, x-linked dominant, 1 11.1
9 charcot-marie-tooth disease, axonal, type 2f 11.1
10 retinitis pigmentosa 42 11.1
11 jejunal neoplasm 11.1
12 small intestine benign neoplasm 11.1
13 spastic paraplegia 76, autosomal recessive 11.1
14 axonal neuropathy 11.0
15 neuropathy 11.0
16 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.0
17 streptococcal group a invasive disease 10.1
18 triiodothyronine receptor auxiliary protein 10.1
19 hepatitis 10.1
20 prostatic adenoma 10.1 SLC25A5 SLC25A6
21 neuronal migration disorders 10.1 MAP1B VIM
22 neurodegeneration with brain iron accumulation 2a 10.1
23 neuroaxonal dystrophy 10.1
24 peripheral nervous system disease 10.1
25 hypertension, essential 10.0
26 vertigo, benign recurrent 10.0
27 hepatitis b 10.0
28 benign paroxysmal positional nystagmus 10.0
29 dystonia 11, myoclonic 9.9 MAP1B VIM
30 tetralogy of fallot 9.9
31 intraocular pressure quantitative trait locus 9.9
32 liver cirrhosis 9.9
33 liver disease 9.9
34 nonalcoholic fatty liver disease 9.9
35 diarrhea 9.9
36 constipation 9.9
37 fatty liver disease 9.9
38 irritable bowel syndrome 9.9
39 charles bonnet syndrome 9.9
40 degos 'en cocarde' erythrokeratoderma 9.9
41 spondyloenchondrodysplasia 9.9
42 depression 9.9
43 isolated optic neuritis 9.9
44 nodular lymphocyte predominant hodgkin lymphoma 9.9
45 fazio-londe disease 9.9
46 3-methylglutaconic aciduria, type iii 9.9
47 diabetes mellitus 9.9
48 leukodystrophy 9.9
49 nervous system disease 9.9
50 bladder cancer 9.8

Graphical network of the top 20 diseases related to Giant Axonal Neuropathy:



Diseases related to Giant Axonal Neuropathy

Symptoms & Phenotypes for Giant Axonal Neuropathy

Human phenotypes related to Giant Axonal Neuropathy:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 joint hypermobility 33 hallmark (90%) HP:0001382
2 areflexia 33 hallmark (90%) HP:0001284
3 difficulty walking 33 hallmark (90%) HP:0002355
4 proximal muscle weakness 33 hallmark (90%) HP:0003701
5 generalized hypotonia 33 hallmark (90%) HP:0001290
6 pili canaliculi 33 hallmark (90%) HP:0002235
7 diffuse axonal swelling 33 hallmark (90%) HP:0003405
8 cns hypomyelination 33 hallmark (90%) HP:0003429
9 abnormality of the achilles tendon 33 hallmark (90%) HP:0005109
10 intellectual disability 33 frequent (33%) HP:0001249
11 spasticity 33 frequent (33%) HP:0001257
12 scoliosis 33 frequent (33%) HP:0002650
13 facial palsy 33 frequent (33%) HP:0010628
14 pes cavus 33 frequent (33%) HP:0001761
15 talipes equinovarus 33 frequent (33%) HP:0001762
16 woolly hair 33 frequent (33%) HP:0002224
17 abnormal hand morphology 33 frequent (33%) HP:0005922
18 distal muscle weakness 33 frequent (33%) HP:0002460
19 unsteady gait 33 frequent (33%) HP:0002317
20 distal sensory impairment 33 frequent (33%) HP:0002936
21 abnormal cerebellum morphology 33 frequent (33%) HP:0001317
22 genu valgum 33 occasional (7.5%) HP:0002857
23 babinski sign 33 occasional (7.5%) HP:0003487
24 falls 33 occasional (7.5%) HP:0002527
25 limb muscle weakness 33 occasional (7.5%) HP:0003690
26 abnormality of the pituitary gland 33 occasional (7.5%) HP:0012503

UMLS symptoms related to Giant Axonal Neuropathy:


abnormal pyramidal signs, neuralgia, facial paresis, cerebellar signs

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 RPS10
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.66 VIM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.66 TUBB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.66 TUBB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 TUBB VIM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.66 RPS10 VIM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.66 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.66 VIM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.66 RPS10 TUBB VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.66 TUBB VIM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 TUBB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 VIM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.66 TUBB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 RPS10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 RPS10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 VIM

Drugs & Therapeutics for Giant Axonal Neuropathy

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 1 79902-63-9 54454
2 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1
3 Antimetabolites Phase 1
4 Hypolipidemic Agents Phase 1
5 Anticholesteremic Agents Phase 1
6 Lipid Regulating Agents Phase 1
7 Antiviral Agents Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Simvatstatin Used to Treat Pulmonary Hypertension Unknown status NCT00538044 Phase 1 simvastatin
2 Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1 Intrathecal Delivery of scAAV9/JeT-GAN
3 Jiu-wei-zhen-xiao Granule for Advanced Hepatocellular Carcinoma Not yet recruiting NCT03851471 Early Phase 1 Jiu-wei-zhen-xiao Granule
4 Giant Axonal Neuropathy Natural History Study Terminated NCT01503125

Search NIH Clinical Center for Giant Axonal Neuropathy

Genetic Tests for Giant Axonal Neuropathy

Genetic tests related to Giant Axonal Neuropathy:

# Genetic test Affiliating Genes
1 Giant Axonal Neuropathy 30 GAN

Anatomical Context for Giant Axonal Neuropathy

MalaCards organs/tissues related to Giant Axonal Neuropathy:

42
Brain, Spinal Cord, Testes, Eye, Skin, Pituitary, Cerebellum

Publications for Giant Axonal Neuropathy

Articles related to Giant Axonal Neuropathy:

(show top 50) (show all 134)
# Title Authors Year
1
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens. ( 30709364 )
2019
2
Two novel mutations in the GAN gene causing giant axonal neuropathy. ( 29876741 )
2018
3
Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy. ( 29766026 )
2018
4
Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene. ( 30246730 )
2018
5
Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features. ( 30532362 )
2018
6
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
7
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
8
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
9
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
10
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
11
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27369358 )
2016
12
Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27514609 )
2016
13
A mild case of giant axonal neuropathy without central nervous system manifestation. ( 26381321 )
2015
14
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). ( 26330398 )
2015
15
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. ( 25398950 )
2014
16
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy. ( 26693541 )
2014
17
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. ( 25216920 )
2014
18
Giant Axonal Neuropathy. ( 25213662 )
2014
19
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. ( 24860645 )
2014
20
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. ( 24758703 )
2014
21
Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design. ( 25186661 )
2014
22
Giant axonal neuropathy: a clinicoradiopathologic diagnosis. ( 24590247 )
2014
23
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. ( 25040701 )
2014
24
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. ( 24947478 )
2014
25
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. ( 23890932 )
2014
26
Giant axonal neuropathy. ( 23931822 )
2013
27
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. ( 23248352 )
2013
28
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. ( 24273072 )
2013
29
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. ( 23585478 )
2013
30
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. ( 23316953 )
2013
31
Explaining intermediate filament accumulation in giant axonal neuropathy. ( 25003002 )
2013
32
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. ( 23332420 )
2013
33
Giant axonal neuropathy diagnosed on skin biopsy. ( 24211141 )
2013
34
Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report. ( 28167990 )
2013
35
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. ( 22806374 )
2012
36
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. ( 21356581 )
2012
37
BAG3 mutations: another cause of giant axonal neuropathy. ( 22734908 )
2012
38
Involvement of the globus pallidus in giant axonal neuropathy. ( 23044025 )
2012
39
Giant axonal neuropathy: a pictorial essay and review of literature. ( 24148344 )
2010
40
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. ( 20949505 )
2010
41
Application of autologous bone marrow stem cells in giant axonal neuropathy. ( 22301809 )
2010
42
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
43
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. ( 19439850 )
2009
44
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. ( 19295179 )
2009
45
Phenotypic variability in giant axonal neuropathy. ( 19231187 )
2009
46
Genotype-phenotype analysis in patients with giant axonal neuropathy. ( 18343115 )
2008
47
3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy. ( 18581347 )
2008
48
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. ( 18595793 )
2008
49
Giant axonal neuropathy. ( 17256086 )
2007
50
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. ( 17331252 )
2007

Variations for Giant Axonal Neuropathy

ClinVar genetic disease variations for Giant Axonal Neuropathy:

6 (show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAN NM_022041.3(GAN): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200749953 GRCh38 Chromosome 16, 81356881: 81356881
2 GAN NM_022041.3(GAN): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200749953 GRCh37 Chromosome 16, 81390486: 81390486
3 GAN NM_022041.3(GAN): c.1084G> A (p.Glu362Lys) single nucleotide variant Uncertain significance rs587779384 GRCh38 Chromosome 16, 81362609: 81362609
4 GAN NM_022041.3(GAN): c.1084G> A (p.Glu362Lys) single nucleotide variant Uncertain significance rs587779384 GRCh37 Chromosome 16, 81396214: 81396214
5 GAN NM_022041.3(GAN): c.1456G> A (p.Glu486Lys) single nucleotide variant Pathogenic rs119485088 GRCh37 Chromosome 16, 81399037: 81399037
6 GAN NM_022041.3(GAN): c.1456G> A (p.Glu486Lys) single nucleotide variant Pathogenic rs119485088 GRCh38 Chromosome 16, 81365432: 81365432
7 GAN NM_022041.3(GAN): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic rs119485089 GRCh37 Chromosome 16, 81399028: 81399028
8 GAN NM_022041.3(GAN): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic rs119485089 GRCh38 Chromosome 16, 81365423: 81365423
9 GAN GAN, 1-BP INS, 18A insertion Pathogenic
10 GAN NM_022041.3(GAN): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs119485090 GRCh37 Chromosome 16, 81388328: 81388328
11 GAN NM_022041.3(GAN): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs119485090 GRCh38 Chromosome 16, 81354723: 81354723
12 GAN NM_022041.3(GAN): c.1268T> C (p.Ile423Thr) single nucleotide variant Pathogenic rs119485091 GRCh37 Chromosome 16, 81398610: 81398610
13 GAN NM_022041.3(GAN): c.1268T> C (p.Ile423Thr) single nucleotide variant Pathogenic rs119485091 GRCh38 Chromosome 16, 81365005: 81365005
14 GAN NM_022041.3(GAN): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs119485092 GRCh37 Chromosome 16, 81388140: 81388140
15 GAN NM_022041.3(GAN): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs119485092 GRCh38 Chromosome 16, 81354535: 81354535
16 GAN NM_022041.3(GAN): c.43C> A (p.Arg15Ser) single nucleotide variant Pathogenic rs119485093 GRCh37 Chromosome 16, 81348761: 81348761
17 GAN NM_022041.3(GAN): c.43C> A (p.Arg15Ser) single nucleotide variant Pathogenic rs119485093 GRCh38 Chromosome 16, 81315156: 81315156
18 GAN NM_022041.3(GAN): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic rs119485094 GRCh37 Chromosome 16, 81399010: 81399010
19 GAN NM_022041.3(GAN): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic rs119485094 GRCh38 Chromosome 16, 81365405: 81365405
20 GAN NM_022041.3(GAN): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs119485095 GRCh37 Chromosome 16, 81388232: 81388232
21 GAN NM_022041.3(GAN): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs119485095 GRCh38 Chromosome 16, 81354627: 81354627
22 GAN NM_022041.3(GAN): c.1293C> T (p.Tyr431=) single nucleotide variant Benign rs2608555 GRCh37 Chromosome 16, 81398635: 81398635
23 GAN NM_022041.3(GAN): c.1293C> T (p.Tyr431=) single nucleotide variant Benign rs2608555 GRCh38 Chromosome 16, 81365030: 81365030
24 GAN NM_022041.3(GAN): c.1630G> A (p.Val544Met) single nucleotide variant Uncertain significance rs200071978 GRCh38 Chromosome 16, 81377432: 81377432
25 GAN NM_022041.3(GAN): c.1630G> A (p.Val544Met) single nucleotide variant Uncertain significance rs200071978 GRCh37 Chromosome 16, 81411037: 81411037
26 GAN NM_022041.3(GAN): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144486241 GRCh37 Chromosome 16, 81391507: 81391507
27 GAN NM_022041.3(GAN): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144486241 GRCh38 Chromosome 16, 81357902: 81357902
28 GAN NM_022041.3(GAN): c.283-14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369700456 GRCh37 Chromosome 16, 81387996: 81387996
29 GAN NM_022041.3(GAN): c.283-14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369700456 GRCh38 Chromosome 16, 81354391: 81354391
30 GAN NM_022041.3(GAN): c.1239C> T (p.Ile413=) single nucleotide variant Benign/Likely benign rs61740238 GRCh37 Chromosome 16, 81398581: 81398581
31 GAN NM_022041.3(GAN): c.1239C> T (p.Ile413=) single nucleotide variant Benign/Likely benign rs61740238 GRCh38 Chromosome 16, 81364976: 81364976
32 GAN NM_022041.3(GAN): c.1445C> T (p.Ala482Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146576740 GRCh37 Chromosome 16, 81399026: 81399026
33 GAN NM_022041.3(GAN): c.1445C> T (p.Ala482Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146576740 GRCh38 Chromosome 16, 81365421: 81365421
34 GAN NM_022041.3(GAN): c.-127C> T single nucleotide variant Uncertain significance rs886052329 GRCh38 Chromosome 16, 81314987: 81314987
35 GAN NM_022041.3(GAN): c.-127C> T single nucleotide variant Uncertain significance rs886052329 GRCh37 Chromosome 16, 81348592: 81348592
36 GAN NM_022041.3(GAN): c.-111G> A single nucleotide variant Uncertain significance rs12929567 GRCh38 Chromosome 16, 81315003: 81315003
37 GAN NM_022041.3(GAN): c.-111G> A single nucleotide variant Uncertain significance rs12929567 GRCh37 Chromosome 16, 81348608: 81348608
38 GAN NM_022041.3(GAN): c.-75G> C single nucleotide variant Likely benign rs117642837 GRCh38 Chromosome 16, 81315039: 81315039
39 GAN NM_022041.3(GAN): c.-75G> C single nucleotide variant Likely benign rs117642837 GRCh37 Chromosome 16, 81348644: 81348644
40 GAN NM_022041.3(GAN): c.75G> A (p.Glu25=) single nucleotide variant Uncertain significance rs754548795 GRCh38 Chromosome 16, 81315188: 81315188
41 GAN NM_022041.3(GAN): c.75G> A (p.Glu25=) single nucleotide variant Uncertain significance rs754548795 GRCh37 Chromosome 16, 81348793: 81348793
42 GAN NM_022041.3(GAN): c.801A> G (p.Lys267=) single nucleotide variant Uncertain significance rs746799355 GRCh38 Chromosome 16, 81356952: 81356952
43 GAN NM_022041.3(GAN): c.801A> G (p.Lys267=) single nucleotide variant Uncertain significance rs746799355 GRCh37 Chromosome 16, 81390557: 81390557
44 GAN NM_022041.3(GAN): c.974-11G> C single nucleotide variant Uncertain significance rs753746307 GRCh38 Chromosome 16, 81362488: 81362488
45 GAN NM_022041.3(GAN): c.974-11G> C single nucleotide variant Uncertain significance rs753746307 GRCh37 Chromosome 16, 81396093: 81396093
46 GAN NM_022041.3(GAN): c.1699C> A (p.Arg567Ser) single nucleotide variant Uncertain significance rs886052335 GRCh38 Chromosome 16, 81377501: 81377501
47 GAN NM_022041.3(GAN): c.1699C> A (p.Arg567Ser) single nucleotide variant Uncertain significance rs886052335 GRCh37 Chromosome 16, 81411106: 81411106
48 GAN NM_022041.3(GAN): c.*360G> T single nucleotide variant Uncertain significance rs886052339 GRCh37 Chromosome 16, 81411561: 81411561
49 GAN NM_022041.3(GAN): c.*360G> T single nucleotide variant Uncertain significance rs886052339 GRCh38 Chromosome 16, 81377956: 81377956
50 GAN NM_022041.3(GAN): c.*1268C> T single nucleotide variant Uncertain significance rs182391687 GRCh38 Chromosome 16, 81378864: 81378864

Expression for Giant Axonal Neuropathy

Search GEO for disease gene expression data for Giant Axonal Neuropathy.

Pathways for Giant Axonal Neuropathy

GO Terms for Giant Axonal Neuropathy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.9 CTNNA2 DCAF8 DCDC1 GAN HSPA1L MAP1B
2 ribosome GO:0005840 9.5 RPS10 RPS3 RPSA
3 cytoskeleton GO:0005856 9.43 CTNNA2 GAN MAP1B RPS3 TUBB VIM
4 polysome GO:0005844 9.37 RPS3 VIM
5 small ribosomal subunit GO:0015935 9.26 RPS3 RPSA
6 cytosolic small ribosomal subunit GO:0022627 8.8 RPS10 RPS3 RPSA
7 cytosol GO:0005829 10.06 CTNNA2 DCAF8 GAN HSPA1L MAP1B RPS10

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.76 RPSA SLC25A5 SLC25A6 VIM
2 cytoskeleton organization GO:0007010 9.65 CTNNA2 GAN TUBB
3 translational initiation GO:0006413 9.61 RPS10 RPS3 RPSA
4 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.58 RPS10 RPS3 RPSA
5 ribosomal small subunit assembly GO:0000028 9.37 RPS10 RPSA
6 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.33 RPS10 RPS3 RPSA
7 cellular process GO:0009987 9.32 MAP1B TUBB
8 ATP transport GO:0015867 9.26 SLC25A5 SLC25A6
9 ADP transport GO:0015866 8.96 SLC25A5 SLC25A6
10 adenine transport GO:0015853 8.62 SLC25A5 SLC25A6

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.58 DCDC1 MAP1B RPS3
2 structural molecule activity GO:0005198 9.54 MAP1B TUBB VIM
3 structural constituent of ribosome GO:0003735 9.5 RPS10 RPS3 RPSA
4 protein binding GO:0005515 9.47 CTNNA2 DCAF8 DCDC1 GAN HSPA1L MAP1B
5 structural constituent of cytoskeleton GO:0005200 9.43 CTNNA2 TUBB VIM
6 ATP:ADP antiporter activity GO:0005471 9.16 SLC25A5 SLC25A6
7 adenine transmembrane transporter activity GO:0015207 8.96 SLC25A5 SLC25A6

Sources for Giant Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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