GAN1
MCID: GNT049
MIFTS: 46

Giant Axonal Neuropathy 1, Autosomal Recessive (GAN1)

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

Aliases & Classifications for Giant Axonal Neuropathy 1, Autosomal Recessive

MalaCards integrated aliases for Giant Axonal Neuropathy 1, Autosomal Recessive:

Name: Giant Axonal Neuropathy 1, Autosomal Recessive 57 72
Giant Axonal Neuropathy 1 12 29 6 15 70
Gan 57 58 72
Giant Axonal Neuropathy-1 57 13
Giant Axonal Neuropathy 58 44
Gan1 57 72
Neuropathy, Axonal, Giant, Type 1 39

Characteristics:

Orphanet epidemiological data:

58
giant axonal neuropathy
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in childhood
slowly progressive
some patients may lose independent ambulation
see also autosomal dominant giant axonal neuropathy


HPO:

31
giant axonal neuropathy 1, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090068
OMIM® 57 256850
OMIM Phenotypic Series 57 PS256850
MESH via Orphanet 45 D056768
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA643
MedGen 41 C1850386
UMLS 70 C1850386

Summaries for Giant Axonal Neuropathy 1, Autosomal Recessive

OMIM® : 57 Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by Berg et al., 1972; Igisu et al., 1975; Carpenter et al., 1974). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder (Tazir et al., 2009). (256850) (Updated 05-Apr-2021)

MalaCards based summary : Giant Axonal Neuropathy 1, Autosomal Recessive, also known as giant axonal neuropathy 1, is related to giant axonal neuropathy 2, autosomal dominant and giant axonal neuropathy, and has symptoms including neuralgia, facial paresis and abnormal pyramidal signs. An important gene associated with Giant Axonal Neuropathy 1, Autosomal Recessive is GAN (Gigaxonin). Affiliated tissues include cerebellum, pituitary and skin, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.

UniProtKB/Swiss-Prot : 72 Giant axonal neuropathy 1, autosomal recessive: A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder.

Related Diseases for Giant Axonal Neuropathy 1, Autosomal Recessive

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 1, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 giant axonal neuropathy 2, autosomal dominant 11.8
2 giant axonal neuropathy 11.4
3 axonal neuropathy 11.3
4 neuropathy 11.3
5 charcot-marie-tooth disease 11.1
6 charcot-marie-tooth disease, axonal, type 2e 11.1
7 tooth disease 11.0
8 retinitis pigmentosa 11.0
9 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.0
10 disease of mental health 11.0
11 hereditary spastic paraplegia 11.0
12 spastic paraplegia 76, autosomal recessive 10.9
13 peripheral nervous system disease 10.9
14 alacrima, achalasia, and mental retardation syndrome 10.9
15 alexander disease 10.8
16 cohen syndrome 10.8
17 spinal muscular atrophy, x-linked 2 10.8
18 charcot-marie-tooth disease, type 4b2 10.8
19 charcot-marie-tooth disease, axonal, type 2p 10.8
20 ataxia-oculomotor apraxia 3 10.8
21 charcot-marie-tooth disease, axonal, type 2cc 10.8
22 charcot-marie-tooth disease, axonal, type 2t 10.8
23 cold-induced sweating syndrome 10.8
24 giant axonal neuropathy 2 10.8
25 alcoholic neuropathy 10.8
26 inflammatory and toxic neuropathy 10.8
27 neuromuscular disease 10.8
28 overgrowth syndrome 10.5
29 triiodothyronine receptor auxiliary protein 10.5
30 neuroaxonal dystrophy 10.3
31 hypotonia 10.3
32 hepatitis b 10.2
33 amyotrophic lateral sclerosis 1 10.2
34 neurodegeneration with brain iron accumulation 2a 10.2
35 scoliosis 10.2
36 lateral sclerosis 10.2
37 rapidly involuting congenital hemangioma 10.2
38 non-alcoholic fatty liver disease 10.2
39 irritable bowel syndrome 10.2
40 microvascular complications of diabetes 3 10.1
41 microvascular complications of diabetes 4 10.1
42 microvascular complications of diabetes 6 10.1
43 microvascular complications of diabetes 7 10.1
44 fatty liver disease 10.1
45 paraplegia 10.1
46 precocious puberty 10.1
47 prostatic hypertrophy 10.1
48 fibrosis of extraocular muscles, congenital, 1 10.1
49 prostatic hyperplasia, benign 10.1
50 borderline personality disorder 10.1

Graphical network of the top 20 diseases related to Giant Axonal Neuropathy 1, Autosomal Recessive:



Diseases related to Giant Axonal Neuropathy 1, Autosomal Recessive

Symptoms & Phenotypes for Giant Axonal Neuropathy 1, Autosomal Recessive

Human phenotypes related to Giant Axonal Neuropathy 1, Autosomal Recessive:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
2 scoliosis 58 31 Frequent (79-30%) HP:0002650
3 facial palsy 58 31 Frequent (79-30%) HP:0010628
4 talipes equinovarus 58 31 Frequent (79-30%) HP:0001762
5 pes cavus 58 31 Frequent (79-30%) HP:0001761
6 abnormal cerebellum morphology 58 31 Frequent (79-30%) HP:0001317
7 distal muscle weakness 58 31 Frequent (79-30%) HP:0002460
8 proximal muscle weakness 58 31 Very frequent (99-80%) HP:0003701
9 distal sensory impairment 58 31 Frequent (79-30%) HP:0002936
10 spasticity 58 Frequent (79-30%)
11 hyperreflexia 31 HP:0001347
12 abnormal pyramidal sign 31 HP:0007256
13 nystagmus 31 HP:0000639
14 dysarthria 31 HP:0001260
15 pes planus 31 HP:0001763
16 genu valgum 58 Occasional (29-5%)
17 joint hypermobility 58 Very frequent (99-80%)
18 areflexia 58 Very frequent (99-80%)
19 spastic paraplegia 31 HP:0001258
20 steppage gait 31 HP:0003376
21 babinski sign 58 Occasional (29-5%)
22 woolly hair 58 Frequent (79-30%)
23 abnormal hand morphology 58 Frequent (79-30%)
24 limb muscle weakness 58 Occasional (29-5%)
25 generalized hypotonia 58 Very frequent (99-80%)
26 unsteady gait 58 Frequent (79-30%)
27 difficulty walking 58 Very frequent (99-80%)
28 abnormality of the hand 31 HP:0001155
29 motor axonal neuropathy 31 HP:0007002
30 distal amyotrophy 31 HP:0003693
31 abnormality of the achilles tendon 58 Very frequent (99-80%)
32 curly hair 31 HP:0002212
33 cns hypomyelination 58 Very frequent (99-80%)
34 abnormality of the pituitary gland 58 Occasional (29-5%)
35 falls 58 Occasional (29-5%)
36 diffuse axonal swelling 58 Very frequent (99-80%)
37 areflexia of lower limbs 31 HP:0002522
38 sensory axonal neuropathy 31 HP:0003390
39 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
40 hyporeflexia of lower limbs 31 HP:0002600
41 pili canaliculi 58 Very frequent (99-80%)
42 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
spastic paraplegia
cerebellar signs
pyramidal signs
more
Head And Neck Eyes:
nystagmus

Neurologic Peripheral Nervous System:
steppage gait
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
areflexia of the lower limbs
more
Skeletal Hands:
hand deformities

Skeletal Spine:
scoliosis

Skeletal Feet:
pes planus
talipes equinovarus
pes cavus
foot deformities

Head And Neck Face:
facial weakness

Skin Nails Hair Hair:
kinky hair (not a consistent finding)
curly hair (not a consistent finding)

Clinical features from OMIM®:

256850 (Updated 05-Apr-2021)

UMLS symptoms related to Giant Axonal Neuropathy 1, Autosomal Recessive:


neuralgia; facial paresis; abnormal pyramidal signs; cerebellar signs

MGI Mouse Phenotypes related to Giant Axonal Neuropathy 1, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACTB GAN IHH MAP1S SMAD6

Drugs & Therapeutics for Giant Axonal Neuropathy 1, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study of Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Recruiting NCT02362438 Phase 1
2 Clinical Study of Giant Axonal Neuropathy Terminated NCT01503125

Search NIH Clinical Center for Giant Axonal Neuropathy 1, Autosomal Recessive

Cochrane evidence based reviews: giant axonal neuropathy

Genetic Tests for Giant Axonal Neuropathy 1, Autosomal Recessive

Genetic tests related to Giant Axonal Neuropathy 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Giant Axonal Neuropathy 1 29 GAN

Anatomical Context for Giant Axonal Neuropathy 1, Autosomal Recessive

MalaCards organs/tissues related to Giant Axonal Neuropathy 1, Autosomal Recessive:

40
Cerebellum, Pituitary, Skin

Publications for Giant Axonal Neuropathy 1, Autosomal Recessive

Articles related to Giant Axonal Neuropathy 1, Autosomal Recessive:

(show all 35)
# Title Authors PMID Year
1
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. 57 6
20949505 2010
2
Phenotypic variability in giant axonal neuropathy. 57 6
19231187 2009
3
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. 6 57
12668605 2003
4
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. 6 57
11053687 2000
5
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. 6 57
11062483 2000
6
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. 6 57
2153943 1990
7
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. 6
23890932 2014
8
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene. 6
23248352 2013
9
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. 57
18595793 2008
10
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). 6
17587580 2007
11
Giant axonal neuropathy: clinical and genetic study in six cases. 6
15897506 2005
12
Clinical and molecular findings in patients with giant axonal neuropathy (GAN). 6
14718689 2004
13
Identification of seven novel mutations in the GAN gene. 6
12655563 2003
14
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. 6
11971098 2002
15
Giant axonal neuropathy locus refinement to a < 590 kb critical interval. 57
10909853 2000
16
Localization of the giant axonal neuropathy gene to chromosome 16q24. 57
9450783 1998
17
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. 57
10732815 1997
18
Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy. 57
8635201 1996
19
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. 57
8072681 1994
20
Giant axonal neuropathy: observations on a further patient. 57
2849642 1988
21
Childhood giant axonal neuropathy. Case report and review of the literature. 57
2831308 1987
22
Congenital giant axonal neuropathy. 57
2990373 1985
23
Giant axonal neuropathy: an inborn error of organization of intermediate filaments. 57
6280044 1982
24
Clinical progression of giant-axonal neuropathy over a twelve year period. 57
7326612 1981
25
Inherited canine giant axonal neuropathy. 57
6264288 1981
26
Giant axonal neuropathy. Involvement of peripheral nerve, myenteric plexus and extra-neuronal area. 57
199032 1977
27
Giant axonal neuropathy: a childhood disorder of microfilaments. 57
214018 1977
28
Gian axonal neuropathy--a generalized disorder of cytoplasmic microfilament formation. 57
180266 1976
29
Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system. 57
168514 1975
30
Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. 57
4153361 1974
31
Giant axonal neuropathy -- a third case. 57
4377753 1974
32
Giant axonal neuropathy. 57
4339350 1972
33
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. 57
5044004 1972
34
Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy. 61
19398414 2009
35
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. 61
12398836 2002

Variations for Giant Axonal Neuropathy 1, Autosomal Recessive

ClinVar genetic disease variations for Giant Axonal Neuropathy 1, Autosomal Recessive:

6 (show top 50) (show all 345)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAN NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) SNV Pathogenic 5030 rs119485088 GRCh37: 16:81399037-81399037
GRCh38: 16:81365432-81365432
2 GAN NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) SNV Pathogenic 5031 rs119485089 GRCh37: 16:81399028-81399028
GRCh38: 16:81365423-81365423
3 GAN NM_022041.3(GAN):c.601C>T (p.Arg201Ter) SNV Pathogenic 5033 rs119485090 GRCh37: 16:81388328-81388328
GRCh38: 16:81354723-81354723
4 GAN NM_022041.3(GAN):c.43C>A (p.Arg15Ser) SNV Pathogenic 5036 rs119485093 GRCh37: 16:81348761-81348761
GRCh38: 16:81315156-81315156
5 GAN NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) SNV Pathogenic 5037 rs119485094 GRCh37: 16:81399010-81399010
GRCh38: 16:81365405-81365405
6 GAN NM_022041.3(GAN):c.505G>A (p.Glu169Lys) SNV Pathogenic 5038 rs119485095 GRCh37: 16:81388232-81388232
GRCh38: 16:81354627-81354627
7 GAN NM_022041.3(GAN):c.1157del (p.Lys386fs) Deletion Pathogenic 465385 rs1555511861 GRCh37: 16:81397466-81397466
GRCh38: 16:81363861-81363861
8 overlap with 9 genes NC_000016.9:g.(?_80623263)_(81411221_?)del Deletion Pathogenic 584186 GRCh37: 16:80623263-81411221
GRCh38:
9 GAN NM_022041.3(GAN):c.1012A>T (p.Lys338Ter) SNV Pathogenic 637540 rs1181977802 GRCh37: 16:81396142-81396142
GRCh38: 16:81362537-81362537
10 GAN NM_022041.3(GAN):c.877C>T (p.Arg293Ter) SNV Pathogenic 637536 rs370358470 GRCh37: 16:81391440-81391440
GRCh38: 16:81357835-81357835
11 GAN NM_022041.3(GAN):c.1373+1G>A SNV Pathogenic 689762 rs1597407138 GRCh37: 16:81398716-81398716
GRCh38: 16:81365111-81365111
12 GAN NC_000016.10:g.(?_81315104)_(81377606_?)del Deletion Pathogenic 832850 GRCh37: 16:81348709-81411211
GRCh38:
13 GAN NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer) Deletion Pathogenic 997694 GRCh37: 16:81397474-81397474
GRCh38: 16:81363869-81363869
14 GAN NM_022041.3(GAN):c.1502+1G>T SNV Pathogenic 465389 rs1555511978 GRCh37: 16:81399084-81399084
GRCh38: 16:81365479-81365479
15 GAN NM_022041.4(GAN):c.307C>T (p.Gln103Ter) SNV Pathogenic 1033994 GRCh37: 16:81388034-81388034
GRCh38: 16:81354429-81354429
16 GAN NM_022041.3(GAN):c.851+1G>A SNV Pathogenic/Likely pathogenic 246282 rs747291494 GRCh37: 16:81390608-81390608
GRCh38: 16:81357003-81357003
17 GAN NM_022041.4(GAN):c.633+1G>A SNV Likely pathogenic 873485 GRCh37: 16:81388361-81388361
GRCh38: 16:81354756-81354756
18 GAN NM_022041.3(GAN):c.805C>T (p.Arg269Trp) SNV Likely pathogenic 583275 rs776397915 GRCh37: 16:81390561-81390561
GRCh38: 16:81356956-81356956
19 GAN NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del Deletion Likely pathogenic 590797 GRCh37: 16:81367334-81410823
GRCh38: 16:81333729-81377218
20 GAN NM_022041.4(GAN):c.890C>T (p.Pro297Leu) SNV Likely pathogenic 598941 rs771785420 GRCh37: 16:81391453-81391453
GRCh38: 16:81357848-81357848
21 GAN NM_022041.3(GAN):c.413G>A (p.Arg138His) SNV Conflicting interpretations of pathogenicity 5035 rs119485092 GRCh37: 16:81388140-81388140
GRCh38: 16:81354535-81354535
22 GAN NM_022041.3(GAN):c.18_19insA (p.Val7fs) Insertion Conflicting interpretations of pathogenicity 637533 rs1597385624 GRCh37: 16:81348736-81348737
GRCh38: 16:81315131-81315132
23 GAN NM_022041.3(GAN):c.1323T>C (p.Tyr441=) SNV Conflicting interpretations of pathogenicity 698178 rs368072478 GRCh37: 16:81398665-81398665
GRCh38: 16:81365060-81365060
24 GAN NM_022041.3(GAN):c.1017G>A (p.Gln339=) SNV Conflicting interpretations of pathogenicity 703695 rs201451382 GRCh37: 16:81396147-81396147
GRCh38: 16:81362542-81362542
25 GAN NM_022041.3(GAN):c.1445C>T (p.Ala482Val) SNV Conflicting interpretations of pathogenicity 265171 rs146576740 GRCh37: 16:81399026-81399026
GRCh38: 16:81365421-81365421
26 GAN NM_022041.3(GAN):c.730A>G (p.Ile244Val) SNV Conflicting interpretations of pathogenicity 157527 rs200749953 GRCh37: 16:81390486-81390486
GRCh38: 16:81356881-81356881
27 GAN NM_022041.4(GAN):c.275G>T (p.Ser92Ile) SNV Uncertain significance 1028744 GRCh37: 16:81385295-81385295
GRCh38: 16:81351690-81351690
28 GAN NM_022041.4(GAN):c.642G>A (p.Met214Ile) SNV Uncertain significance 1036479 GRCh37: 16:81390398-81390398
GRCh38: 16:81356793-81356793
29 GAN NM_022041.4(GAN):c.1384G>A (p.Val462Met) SNV Uncertain significance 1036723 GRCh37: 16:81398965-81398965
GRCh38: 16:81365360-81365360
30 GAN NM_022041.4(GAN):c.782C>T (p.Ala261Val) SNV Uncertain significance 1037226 GRCh37: 16:81390538-81390538
GRCh38: 16:81356933-81356933
31 GAN NM_022041.4(GAN):c.14G>C (p.Ser5Thr) SNV Uncertain significance 1037987 GRCh37: 16:81348732-81348732
GRCh38: 16:81315127-81315127
32 GAN NM_022041.4(GAN):c.1412A>T (p.Tyr471Phe) SNV Uncertain significance 1039304 GRCh37: 16:81398993-81398993
GRCh38: 16:81365388-81365388
33 GAN NM_022041.4(GAN):c.417C>G (p.Asp139Glu) SNV Uncertain significance 1041421 GRCh37: 16:81388144-81388144
GRCh38: 16:81354539-81354539
34 GAN NM_022041.4(GAN):c.1382C>T (p.Ala461Val) SNV Uncertain significance 1043475 GRCh37: 16:81398963-81398963
GRCh38: 16:81365358-81365358
35 GAN NM_022041.3(GAN):c.724C>T (p.Arg242Ter) SNV Uncertain significance 637539 rs764816887 GRCh37: 16:81390480-81390480
GRCh38: 16:81356875-81356875
36 GAN NM_022041.4(GAN):c.1123A>T (p.Met375Leu) SNV Uncertain significance 888320 GRCh37: 16:81397435-81397435
GRCh38: 16:81363830-81363830
37 GAN NM_022041.4(GAN):c.625A>G (p.Ile209Val) SNV Uncertain significance 1000079 GRCh37: 16:81388352-81388352
GRCh38: 16:81354747-81354747
38 GAN NM_022041.4(GAN):c.988G>T (p.Val330Leu) SNV Uncertain significance 1000519 GRCh37: 16:81396118-81396118
GRCh38: 16:81362513-81362513
39 GAN NM_022041.4(GAN):c.856C>T (p.Arg286Trp) SNV Uncertain significance 1000875 GRCh37: 16:81391419-81391419
GRCh38: 16:81357814-81357814
40 GAN NM_022041.3(GAN):c.1628A>G (p.Tyr543Cys) SNV Uncertain significance 245810 rs879253958 GRCh37: 16:81411035-81411035
GRCh38: 16:81377430-81377430
41 GAN NM_022041.4(GAN):c.1499A>G (p.Lys500Arg) SNV Uncertain significance 1001625 GRCh37: 16:81399080-81399080
GRCh38: 16:81365475-81365475
42 GAN NM_022041.4(GAN):c.868G>T (p.Ala290Ser) SNV Uncertain significance 1004026 GRCh37: 16:81391431-81391431
GRCh38: 16:81357826-81357826
43 GAN NM_022041.4(GAN):c.282G>A (p.Gln94=) SNV Uncertain significance 1007025 GRCh37: 16:81385302-81385302
GRCh38: 16:81351697-81351697
44 GAN NM_022041.3(GAN):c.1241G>A (p.Gly414Asp) SNV Uncertain significance 245921 rs761827117 GRCh37: 16:81398583-81398583
GRCh38: 16:81364978-81364978
45 GAN NM_022041.4(GAN):c.976G>C (p.Gly326Arg) SNV Uncertain significance 1009747 GRCh37: 16:81396106-81396106
GRCh38: 16:81362501-81362501
46 GAN NM_022041.3(GAN):c.1171A>G (p.Met391Val) SNV Uncertain significance 453094 rs367600164 GRCh37: 16:81397483-81397483
GRCh38: 16:81363878-81363878
47 GAN NM_022041.3(GAN):c.1183G>C (p.Asp395His) SNV Uncertain significance 320656 rs142456623 GRCh37: 16:81397495-81397495
GRCh38: 16:81363890-81363890
48 GAN NM_022041.3(GAN):c.479A>G (p.His160Arg) SNV Uncertain significance 465397 rs373474009 GRCh37: 16:81388206-81388206
GRCh38: 16:81354601-81354601
49 GAN NM_022041.3(GAN):c.1381G>A (p.Ala461Thr) SNV Uncertain significance 581073 rs766155831 GRCh37: 16:81398962-81398962
GRCh38: 16:81365357-81365357
50 GAN NM_022041.3(GAN):c.973+6G>A SNV Uncertain significance 662377 rs372665411 GRCh37: 16:81391542-81391542
GRCh38: 16:81357937-81357937

UniProtKB/Swiss-Prot genetic disease variations for Giant Axonal Neuropathy 1, Autosomal Recessive:

72 (show all 19)
# Symbol AA change Variation ID SNP ID
1 GAN p.Glu486Lys VAR_010757 rs119485088
2 GAN p.Arg15Ser VAR_010759 rs119485093
3 GAN p.Ser52Gly VAR_010760
4 GAN p.Ser79Leu VAR_010761 rs131013743
5 GAN p.Val82Phe VAR_010762
6 GAN p.Arg138His VAR_010763 rs119485092
7 GAN p.Arg269Gln VAR_010764 rs759581558
8 GAN p.Leu309Arg VAR_010765
9 GAN p.Arg545Cys VAR_010766 rs112201678
10 GAN p.Cys570Tyr VAR_010767
11 GAN p.Ile423Thr VAR_015560 rs119485091
12 GAN p.Ile86Phe VAR_015680
13 GAN p.Gly368Arg VAR_015681 rs758756818
14 GAN p.Ala51Pro VAR_054113 rs750258209
15 GAN p.Tyr89Cys VAR_054114
16 GAN p.Val195Phe VAR_054115
17 GAN p.Pro315Leu VAR_054116 rs144486241
18 GAN p.Gly474Arg VAR_054117 rs143503557
19 GAN p.Arg545His VAR_054118 rs746486469

Expression for Giant Axonal Neuropathy 1, Autosomal Recessive

Search GEO for disease gene expression data for Giant Axonal Neuropathy 1, Autosomal Recessive.

Pathways for Giant Axonal Neuropathy 1, Autosomal Recessive

GO Terms for Giant Axonal Neuropathy 1, Autosomal Recessive

Cellular components related to Giant Axonal Neuropathy 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.92 NPM1 MAP1S GAN ACTB

Biological processes related to Giant Axonal Neuropathy 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.33 SMAD6 NPM1 IHH
2 axonogenesis GO:0007409 8.96 MAP1S ACTB
3 positive regulation of collagen biosynthetic process GO:0032967 8.62 SERPINF2 IHH

Molecular functions related to Giant Axonal Neuropathy 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Tat protein binding GO:0030957 8.62 NPM1 ACTB

Sources for Giant Axonal Neuropathy 1, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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