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 24 53 25 54 37 29 6
Giant Axonal Neuropathy 1 53 73
Neuropathy, Giant Axonal 53 55
Gan 53 25
Giant Axonal Disease 25
Gan1 53

Classifications:



Summaries for Giant Axonal Neuropathy

NINDS : 54 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 charcot-marie-tooth disease, and has symptoms including abnormal pyramidal signs, cerebellar signs and facial paresis. An important gene associated with Giant Axonal Neuropathy is GAN (Gigaxonin), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. 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 genu valgum and intellectual disability

Genetics Home Reference : 25 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 : 53 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 : 76 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 76)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2 33.7 DCAF8 GAN
2 charcot-marie-tooth disease 31.9 GAN NEFH NEFL NEFM
3 charcot-marie-tooth disease, axonal, type 2e 31.6 GAN NEFH NEFL
4 axonal neuropathy 31.3 DCAF8 GAN NEFH
5 giant axonal neuropathy 1, autosomal recessive 12.8
6 giant axonal neuropathy 2, autosomal dominant 12.6
7 crouzon syndrome with acanthosis nigricans 11.1
8 retinitis pigmentosa 42 11.1
9 hereditary spastic paraplegia 11.1
10 charcot-marie-tooth disease type 2a2 11.1
11 jejunal cancer 11.1
12 spastic paraplegia 76, autosomal recessive 11.1
13 neuropathy 11.0
14 neurodegeneration with brain iron accumulation 2a 10.1
15 neuroaxonal dystrophy 10.1
16 peripheral nervous system disease 10.1
17 neuronal migration disorders 10.0 MAP1B VIM
18 hypertension, essential 10.0
19 vertigo, benign recurrent 10.0
20 benign paroxysmal positional nystagmus 10.0
21 dystonia 11, myoclonic 10.0 MAP1B VIM
22 triiodothyronine receptor auxiliary protein 10.0
23 hepatitis 10.0
24 charles bonnet syndrome 10.0
25 degos 'en cocarde' erythrokeratoderma 10.0
26 depression 10.0
27 fazio-londe disease 9.9
28 3-methylglutaconic aciduria, type iii 9.9
29 diabetes mellitus 9.9
30 leukodystrophy 9.9
31 nervous system disease 9.9
32 breast cancer 9.8
33 multiple sclerosis 9.8
34 osteoporosis 9.8
35 schizophrenia 9.8
36 tardive dyskinesia 9.8
37 premature ovarian failure 1 9.8
38 aging 9.8
39 adenomyosis 9.8
40 asthma 9.8
41 congenital cataracts, facial dysmorphism, and neuropathy 9.8
42 peripheral vascular disease 9.8
43 autoimmune hepatitis 9.8
44 hepatitis b 9.8
45 liver disease 9.8
46 spinal stenosis 9.8
47 laryngotracheitis 9.8
48 restless legs syndrome 9.8
49 paraganglioma 9.8
50 estrogen-receptor positive breast 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:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 genu valgum 32 occasional (7.5%) HP:0002857
2 intellectual disability 32 frequent (33%) HP:0001249
3 spasticity 32 frequent (33%) HP:0001257
4 scoliosis 32 frequent (33%) HP:0002650
5 facial palsy 32 frequent (33%) HP:0010628
6 babinski sign 32 occasional (7.5%) HP:0003487
7 pes cavus 32 frequent (33%) HP:0001761
8 falls 32 occasional (7.5%) HP:0002527
9 talipes equinovarus 32 frequent (33%) HP:0001762
10 joint hypermobility 32 hallmark (90%) HP:0001382
11 areflexia 32 hallmark (90%) HP:0001284
12 difficulty walking 32 hallmark (90%) HP:0002355
13 proximal muscle weakness 32 hallmark (90%) HP:0003701
14 woolly hair 32 frequent (33%) HP:0002224
15 generalized hypotonia 32 hallmark (90%) HP:0001290
16 limb muscle weakness 32 occasional (7.5%) HP:0003690
17 abnormal hand morphology 32 frequent (33%) HP:0005922
18 distal muscle weakness 32 frequent (33%) HP:0002460
19 unsteady gait 32 frequent (33%) HP:0002317
20 pili canaliculi 32 hallmark (90%) HP:0002235
21 diffuse axonal swelling 32 hallmark (90%) HP:0003405
22 cns hypomyelination 32 hallmark (90%) HP:0003429
23 abnormality of the achilles tendon 32 hallmark (90%) HP:0005109
24 distal sensory impairment 32 frequent (33%) HP:0002936
25 abnormality of the pituitary gland 32 occasional (7.5%) HP:0012503
26 abnormal cerebellum morphology 32 frequent (33%) HP:0001317

UMLS symptoms related to Giant Axonal Neuropathy:


abnormal pyramidal signs, cerebellar signs, facial paresis, neuralgia

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.72 NEFL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.72 NEFL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 NEFL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.72 VIM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.72 TUBB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.72 TUBB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.72 TUBB VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 NEFL VIM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.72 NEFL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.72 VIM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.72 VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.72 NEFL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 TUBB VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.72 NEFL TUBB VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.72 NEFL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 TUBB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.72 TUBB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 VIM

MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.23 ALMS1 GAN LMNB2 MAP1B NEFH NEFL

Drugs & Therapeutics for Giant Axonal Neuropathy

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

(show all 6)
# 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 Anticholesteremic Agents Phase 1
4 Antimetabolites Phase 1
5 Hypolipidemic Agents Phase 1
6 Lipid Regulating Agents 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 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 29 GAN

Anatomical Context for Giant Axonal Neuropathy

MalaCards organs/tissues related to Giant Axonal Neuropathy:

41
Brain, Spinal Cord, Testes, Eye, Skin, Cerebellum, Liver

Publications for Giant Axonal Neuropathy

Articles related to Giant Axonal Neuropathy:

(show top 50) (show all 133)
# Title Authors Year
1
Two novel mutations in the GAN gene causing giant axonal neuropathy. ( 29876741 )
2018
2
Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy. ( 29766026 )
2018
3
Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene. ( 30246730 )
2018
4
Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features. ( 30532362 )
2018
5
Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair. ( 28424304 )
2017
6
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. ( 27000625 )
2016
7
Pili canaliculi as manifestation of giant axonal neuropathy. ( 28300918 )
2016
8
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. ( 27023907 )
2016
9
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. ( 26700320 )
2016
10
Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27369358 )
2016
11
Erratum to: Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease. ( 27514609 )
2016
12
A mild case of giant axonal neuropathy without central nervous system manifestation. ( 26381321 )
2015
13
Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria). ( 26330398 )
2015
14
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. ( 25398950 )
2014
15
Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy. ( 26693541 )
2014
16
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. ( 25216920 )
2014
17
Giant Axonal Neuropathy. ( 25213662 )
2014
18
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. ( 24860645 )
2014
19
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. ( 24758703 )
2014
20
Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design. ( 25186661 )
2014
21
Giant axonal neuropathy: a clinicoradiopathologic diagnosis. ( 24590247 )
2014
22
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. ( 25040701 )
2014
23
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. ( 24947478 )
2014
24
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. ( 23890932 )
2014
25
Giant axonal neuropathy. ( 23931822 )
2013
26
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. ( 23248352 )
2013
27
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. ( 24273072 )
2013
28
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. ( 23585478 )
2013
29
Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. ( 23316953 )
2013
30
Explaining intermediate filament accumulation in giant axonal neuropathy. ( 25003002 )
2013
31
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. ( 23332420 )
2013
32
Giant axonal neuropathy diagnosed on skin biopsy. ( 24211141 )
2013
33
Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report. ( 28167990 )
2013
34
Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. ( 22806374 )
2012
35
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. ( 21356581 )
2012
36
BAG3 mutations: another cause of giant axonal neuropathy. ( 22734908 )
2012
37
Involvement of the globus pallidus in giant axonal neuropathy. ( 23044025 )
2012
38
Giant axonal neuropathy: a pictorial essay and review of literature. ( 24148344 )
2010
39
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. ( 20949505 )
2010
40
Application of autologous bone marrow stem cells in giant axonal neuropathy. ( 22301809 )
2010
41
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
42
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. ( 19439850 )
2009
43
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. ( 19295179 )
2009
44
Phenotypic variability in giant axonal neuropathy. ( 19231187 )
2009
45
Genotype-phenotype analysis in patients with giant axonal neuropathy. ( 18343115 )
2008
46
3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy. ( 18581347 )
2008
47
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. ( 18595793 )
2008
48
Giant axonal neuropathy. ( 17256086 )
2007
49
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. ( 17331252 )
2007
50
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. ( 17578852 )
2007

Variations for Giant Axonal Neuropathy

ClinVar genetic disease variations for Giant Axonal Neuropathy:

6 (show top 50) (show all 306)
# 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 rs747291494 GRCh37 Chromosome 16, 81390608: 81390608
27 GAN NM_022041.3(GAN): c.851+1G> A single nucleotide variant 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

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 cytoskeleton GO:0005856 9.8 ALMS1 GAN MAP1B MAST2 NEFH TUBB
2 axon GO:0030424 9.67 MAP1B NEFH NEFL NEFM
3 intermediate filament GO:0005882 9.35 LMNB2 NEFH NEFL NEFM VIM
4 neurofibrillary tangle GO:0097418 9.32 NEFH NEFM
5 postsynaptic intermediate filament cytoskeleton GO:0099160 9.16 NEFH NEFL
6 neurofilament GO:0005883 8.8 NEFH NEFL NEFM

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.63 GAN MAST2 TUBB
2 microtubule cytoskeleton organization GO:0000226 9.46 MAP1B NEFH NEFL TUBB
3 intermediate filament organization GO:0045109 9.43 NEFL VIM
4 cellular process GO:0009987 9.4 MAP1B TUBB
5 neurofilament cytoskeleton organization GO:0060052 9.37 NEFH NEFL
6 intermediate filament bundle assembly GO:0045110 9.32 NEFH NEFL
7 postsynaptic intermediate filament cytoskeleton organization GO:0099185 9.26 NEFH NEFL
8 axon development GO:0061564 9.13 NEFH NEFL NEFM
9 neurofilament bundle assembly GO:0033693 8.8 NEFH NEFL NEFM

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 9.56 MAP1B MAST2 NEFH NEFM
2 protein domain specific binding GO:0019904 9.5 NEFL TUBB VIM
3 structural constituent of cytoskeleton GO:0005200 9.35 NEFH NEFL NEFM TUBB VIM
4 structural constituent of postsynaptic intermediate filament cytoskeleton GO:0099184 9.16 NEFH NEFL
5 structural molecule activity GO:0005198 9.1 LMNB2 MAP1B NEFH NEFL TUBB VIM

Sources for Giant Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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