MCID: GNT009
MIFTS: 53

Giant Axonal Neuropathy

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 neuralgia, facial paresis and abnormal pyramidal signs. An important gene associated with Giant Axonal Neuropathy is GAN (Gigaxonin), and among its related pathways/superpathways are Developmental Biology and Sertoli-Sertoli Cell Junction Dynamics. The drugs Simvastatin and Hypolipidemic Agents 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 108)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2 34.0 DCAF8 GAN
2 giant axonal neuropathy 1, autosomal recessive 12.9
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 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.0
15 axonal neuropathy 11.0
16 neuropathy 11.0
17 neutrophil migration 10.4
18 streptococcal group a invasive disease 10.3
19 neuronal migration disorders 10.2 MAP1B VIM
20 dystonia 11, myoclonic 10.2 MAP1B VIM
21 triiodothyronine receptor auxiliary protein 10.2
22 blood group, gerbich system 10.2
23 hepatitis 10.1
24 spondyloenchondrodysplasia 10.1
25 neurodegeneration with brain iron accumulation 2a 10.1
26 neuroaxonal dystrophy 10.1
27 peripheral nervous system disease 10.1
28 hypertension, essential 10.0
29 vertigo, benign recurrent 10.0
30 hepatitis b 10.0
31 benign paroxysmal positional nystagmus 10.0
32 breast cancer 10.0
33 tetralogy of fallot 10.0
34 intraocular pressure quantitative trait locus 10.0
35 liver cirrhosis 10.0
36 liver disease 10.0
37 nonalcoholic fatty liver disease 10.0
38 patulous eustachian tube 10.0
39 diarrhea 10.0
40 hyperinsulinism 10.0
41 constipation 10.0
42 fatty liver disease 10.0
43 irritable bowel syndrome 10.0
44 charles bonnet syndrome 10.0
45 degos 'en cocarde' erythrokeratoderma 10.0
46 depression 10.0
47 isolated optic neuritis 10.0
48 familial hemiplegic migraine 9.9 SCN1A SCN5A
49 fazio-londe disease 9.9
50 3-methylglutaconic aciduria, type iii 9.9

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:


neuralgia, facial paresis, abnormal pyramidal signs, cerebellar signs

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

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.7 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.7 TUBB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.7 TUBB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 TUBB VIM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 SCN1A VIM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.7 SCN1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.7 SCN1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.7 VIM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.7 VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 SCN1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.7 SCN1A TUBB VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.7 TUBB VIM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.7 TUBB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.7 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.7 TUBB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 VIM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.7 SCN1A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.7 SCN1A

MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 RPSA RTTN SCN1A SCN5A SETD2 SPTA1
2 growth/size/body region MP:0005378 9.9 GAN MAP1B RPSA RTTN SCN1A SCN5A
3 mortality/aging MP:0010768 9.73 GAN MAP1B RPSA RTTN SCN1A SCN5A
4 nervous system MP:0003631 9.36 GAN MAP1B RTTN SCN1A SCN5A SETD2

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 Hypolipidemic Agents Phase 1
3 Antimetabolites Phase 1
4 Lipid Regulating Agents Phase 1
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1
6 Anticholesteremic 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 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, Liver, Skin, 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
Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy. ( 29766026 )
2018
3
Two novel mutations in the GAN gene causing giant axonal neuropathy. ( 29876741 )
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
A mild case of giant axonal neuropathy without central nervous system manifestation. ( 26381321 )
2016
8
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
9
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
10
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
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
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
14
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. ( 25040701 )
2015
15
Measuring disease progression in giant axonal neuropathy: implications for clinical trial design. ( 25186661 )
2015
16
Giant axonal neuropathy. ( 25213662 )
2015
17
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. ( 25398950 )
2015
18
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). ( 26330398 )
2015
19
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. ( 26460568 )
2015
20
Giant axonal neuropathy diagnosed on skin biopsy. ( 24211141 )
2014
21
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. ( 24273072 )
2014
22
Giant axonal neuropathy: a clinicoradiopathologic diagnosis. ( 24590247 )
2014
23
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. ( 24758703 )
2014
24
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. ( 24860645 )
2014
25
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. ( 24947478 )
2014
26
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. ( 25216920 )
2014
27
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy. ( 26693541 )
2014
28
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. ( 23890932 )
2014
29
Giant axonal neuropathy. ( 23931822 )
2013
30
Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report. ( 28167990 )
2013
31
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. ( 23248352 )
2013
32
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. ( 23316953 )
2013
33
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. ( 23332420 )
2013
34
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. ( 23585478 )
2013
35
Explaining intermediate filament accumulation in giant axonal neuropathy. ( 25003002 )
2013
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
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. ( 22806374 )
2012
39
Involvement of the globus pallidus in giant axonal neuropathy. ( 23044025 )
2012
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
Giant axonal neuropathy: a pictorial essay and review of literature. ( 24148344 )
2010
43
Phenotypic variability in giant axonal neuropathy. ( 19231187 )
2009
44
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. ( 19295179 )
2009
45
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
46
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. ( 19439850 )
2009
47
Genotype-phenotype analysis in patients with giant axonal neuropathy. ( 18343115 )
2008
48
3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy. ( 18581347 )
2008
49
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. ( 18595793 )
2008
50
Anesthesia for a child with giant axonal neuropathy. ( 17181534 )
2007

Variations for Giant Axonal Neuropathy

ClinVar genetic disease variations for Giant Axonal Neuropathy:

6 (show top 50) (show all 310)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAN NM_022041.3(GAN): c.1456G> A (p.Glu486Lys) single nucleotide variant Pathogenic rs119485088 GRCh37 Chromosome 16, 81399037: 81399037
2 GAN NM_022041.3(GAN): c.1456G> A (p.Glu486Lys) single nucleotide variant Pathogenic rs119485088 GRCh38 Chromosome 16, 81365432: 81365432
3 GAN NM_022041.3(GAN): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic rs119485089 GRCh37 Chromosome 16, 81399028: 81399028
4 GAN NM_022041.3(GAN): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic rs119485089 GRCh38 Chromosome 16, 81365423: 81365423
5 GAN GAN, 1-BP INS, 18A insertion Pathogenic
6 GAN NM_022041.3(GAN): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs119485090 GRCh37 Chromosome 16, 81388328: 81388328
7 GAN NM_022041.3(GAN): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs119485090 GRCh38 Chromosome 16, 81354723: 81354723
8 GAN NM_022041.3(GAN): c.1268T> C (p.Ile423Thr) single nucleotide variant Pathogenic rs119485091 GRCh37 Chromosome 16, 81398610: 81398610
9 GAN NM_022041.3(GAN): c.1268T> C (p.Ile423Thr) single nucleotide variant Pathogenic rs119485091 GRCh38 Chromosome 16, 81365005: 81365005
10 GAN NM_022041.3(GAN): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs119485092 GRCh37 Chromosome 16, 81388140: 81388140
11 GAN NM_022041.3(GAN): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs119485092 GRCh38 Chromosome 16, 81354535: 81354535
12 GAN NM_022041.3(GAN): c.43C> A (p.Arg15Ser) single nucleotide variant Pathogenic rs119485093 GRCh37 Chromosome 16, 81348761: 81348761
13 GAN NM_022041.3(GAN): c.43C> A (p.Arg15Ser) single nucleotide variant Pathogenic rs119485093 GRCh38 Chromosome 16, 81315156: 81315156
14 GAN NM_022041.3(GAN): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic rs119485094 GRCh37 Chromosome 16, 81399010: 81399010
15 GAN NM_022041.3(GAN): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic rs119485094 GRCh38 Chromosome 16, 81365405: 81365405
16 GAN NM_022041.3(GAN): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs119485095 GRCh37 Chromosome 16, 81388232: 81388232
17 GAN NM_022041.3(GAN): c.505G> A (p.Glu169Lys) single nucleotide variant Pathogenic rs119485095 GRCh38 Chromosome 16, 81354627: 81354627
18 GAN NM_022041.3(GAN): c.1293C> T (p.Tyr431=) single nucleotide variant Benign rs2608555 GRCh37 Chromosome 16, 81398635: 81398635
19 GAN NM_022041.3(GAN): c.1293C> T (p.Tyr431=) single nucleotide variant Benign rs2608555 GRCh38 Chromosome 16, 81365030: 81365030
20 GAN NM_022041.3(GAN): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200749953 GRCh38 Chromosome 16, 81356881: 81356881
21 GAN NM_022041.3(GAN): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200749953 GRCh37 Chromosome 16, 81390486: 81390486
22 GAN NM_022041.3(GAN): c.1084G> A (p.Glu362Lys) single nucleotide variant Uncertain significance rs587779384 GRCh38 Chromosome 16, 81362609: 81362609
23 GAN NM_022041.3(GAN): c.1084G> A (p.Glu362Lys) single nucleotide variant Uncertain significance rs587779384 GRCh37 Chromosome 16, 81396214: 81396214
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.851+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs747291494 GRCh37 Chromosome 16, 81390608: 81390608
27 GAN NM_022041.3(GAN): c.851+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs747291494 GRCh38 Chromosome 16, 81357003: 81357003
28 GAN NM_022041.3(GAN): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144486241 GRCh37 Chromosome 16, 81391507: 81391507
29 GAN NM_022041.3(GAN): c.944C> T (p.Pro315Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144486241 GRCh38 Chromosome 16, 81357902: 81357902
30 GAN NM_022041.3(GAN): c.283-14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369700456 GRCh37 Chromosome 16, 81387996: 81387996
31 GAN NM_022041.3(GAN): c.283-14T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369700456 GRCh38 Chromosome 16, 81354391: 81354391
32 GAN NM_022041.3(GAN): c.1239C> T (p.Ile413=) single nucleotide variant Benign/Likely benign rs61740238 GRCh37 Chromosome 16, 81398581: 81398581
33 GAN NM_022041.3(GAN): c.1239C> T (p.Ile413=) single nucleotide variant Benign/Likely benign rs61740238 GRCh38 Chromosome 16, 81364976: 81364976
34 GAN NM_022041.3(GAN): c.1445C> T (p.Ala482Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146576740 GRCh37 Chromosome 16, 81399026: 81399026
35 GAN NM_022041.3(GAN): c.1445C> T (p.Ala482Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146576740 GRCh38 Chromosome 16, 81365421: 81365421
36 GAN NM_022041.3(GAN): c.-127C> T single nucleotide variant Uncertain significance rs886052329 GRCh38 Chromosome 16, 81314987: 81314987
37 GAN NM_022041.3(GAN): c.-127C> T single nucleotide variant Uncertain significance rs886052329 GRCh37 Chromosome 16, 81348592: 81348592
38 GAN NM_022041.3(GAN): c.-111G> A single nucleotide variant Uncertain significance rs12929567 GRCh38 Chromosome 16, 81315003: 81315003
39 GAN NM_022041.3(GAN): c.-111G> A single nucleotide variant Uncertain significance rs12929567 GRCh37 Chromosome 16, 81348608: 81348608
40 GAN NM_022041.3(GAN): c.-75G> C single nucleotide variant Likely benign rs117642837 GRCh38 Chromosome 16, 81315039: 81315039
41 GAN NM_022041.3(GAN): c.-75G> C single nucleotide variant Likely benign rs117642837 GRCh37 Chromosome 16, 81348644: 81348644
42 GAN NM_022041.3(GAN): c.75G> A (p.Glu25=) single nucleotide variant Uncertain significance rs754548795 GRCh38 Chromosome 16, 81315188: 81315188
43 GAN NM_022041.3(GAN): c.75G> A (p.Glu25=) single nucleotide variant Uncertain significance rs754548795 GRCh37 Chromosome 16, 81348793: 81348793
44 GAN NM_022041.3(GAN): c.801A> G (p.Lys267=) single nucleotide variant Uncertain significance rs746799355 GRCh38 Chromosome 16, 81356952: 81356952
45 GAN NM_022041.3(GAN): c.801A> G (p.Lys267=) single nucleotide variant Uncertain significance rs746799355 GRCh37 Chromosome 16, 81390557: 81390557
46 GAN NM_022041.3(GAN): c.974-11G> C single nucleotide variant Uncertain significance rs753746307 GRCh38 Chromosome 16, 81362488: 81362488
47 GAN NM_022041.3(GAN): c.974-11G> C single nucleotide variant Uncertain significance rs753746307 GRCh37 Chromosome 16, 81396093: 81396093
48 GAN NM_022041.3(GAN): c.1699C> A (p.Arg567Ser) single nucleotide variant Uncertain significance rs886052335 GRCh38 Chromosome 16, 81377501: 81377501
49 GAN NM_022041.3(GAN): c.1699C> A (p.Arg567Ser) single nucleotide variant Uncertain significance rs886052335 GRCh37 Chromosome 16, 81411106: 81411106
50 GAN NM_022041.3(GAN): c.*360G> T single nucleotide variant Uncertain significance rs886052339 GRCh37 Chromosome 16, 81411561: 81411561

Expression for Giant Axonal Neuropathy

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

Pathways for Giant Axonal Neuropathy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 SCN1A SCN5A SPTA1 SPTAN1 SPTB SPTBN5
2
Show member pathways
12.34 SPTA1 SPTAN1 SPTB SPTBN5
3
Show member pathways
11.53 SCN1A SCN5A SPTA1 SPTAN1 SPTB SPTBN5
4 10.58 SCN1A SCN5A SPTA1 SPTAN1 SPTB SPTBN5

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 axon GO:0030424 9.67 MAP1B SCN1A SCN5A SPTA1
2 cell cortex GO:0005938 9.61 SPTA1 SPTAN1 SPTB
3 cytoskeleton GO:0005856 9.61 GAN MAP1B RTTN SPTA1 SPTAN1 SPTB
4 T-tubule GO:0030315 9.46 SCN1A SCN5A
5 voltage-gated sodium channel complex GO:0001518 9.32 SCN1A SCN5A
6 spectrin-associated cytoskeleton GO:0014731 9.26 SPTA1 SPTB
7 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.16 SPTA1 SPTB
8 spectrin GO:0008091 8.92 SPTA1 SPTAN1 SPTB SPTBN5
9 cytoplasm GO:0005737 10.14 DCAF8 GAN MAP1B RPSA SCN5A SPTA1

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.62 SPTA1 SPTAN1 SPTB SPTBN5
2 axon guidance GO:0007411 9.56 SPTA1 SPTAN1 SPTB SPTBN5
3 neuronal action potential GO:0019228 9.46 SCN1A SCN5A
4 ER to Golgi vesicle-mediated transport GO:0006888 9.46 SPTA1 SPTAN1 SPTB SPTBN5
5 cardiac muscle cell action potential involved in contraction GO:0086002 9.43 SCN1A SCN5A
6 membrane depolarization during action potential GO:0086010 9.4 SCN1A SCN5A
7 cellular process GO:0009987 9.37 MAP1B TUBB
8 cytoskeleton organization GO:0007010 9.26 GAN SPTAN1 SPTB TUBB
9 actin filament capping GO:0051693 8.92 SPTA1 SPTAN1 SPTB SPTBN5

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.54 MAP1B TUBB VIM
2 actin binding GO:0003779 9.35 MAP1B SPTA1 SPTAN1 SPTB SPTBN5
3 sodium channel activity GO:0005272 9.32 SCN1A SCN5A
4 ankyrin binding GO:0030506 9.26 SCN5A SPTB
5 voltage-gated sodium channel activity GO:0005248 9.16 SCN1A SCN5A
6 structural constituent of cytoskeleton GO:0005200 9.02 SPTA1 SPTAN1 SPTB TUBB VIM

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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