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GAN1
MCID: GNT049
MIFTS: 50

Giant Axonal Neuropathy 1, Autosomal Recessive (GAN1)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Giant Axonal Neuropathy 1, Autosomal Recessive

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

Name: Giant Axonal Neuropathy 1, Autosomal Recessive 56 73
Giant Axonal Neuropathy 1 12 29 6 15 71
Gan 56 58 73
Giant Axonal Neuropathy-1 56 13
Giant Axonal Neuropathy 58 43
Gan1 56 73
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:

56
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Nephrological diseases Cardiovascular diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090068
OMIM 56 256850
OMIM Phenotypic Series 56 PS256850
MESH via Orphanet 44 D056768
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA643
MedGen 41 C1850386
UMLS 71 C1850386
Sources

Summaries for Giant Axonal Neuropathy 1, Autosomal Recessive

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OMIM : 56 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)

MalaCards based summary : Giant Axonal Neuropathy 1, Autosomal Recessive, also known as giant axonal neuropathy 1, is related to eye disease and diabetes mellitus, noninsulin-dependent, 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), and among its related pathways/superpathways are NRF2 pathway and Eicosanoid Synthesis. 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 : 73 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.

Sources

Related Diseases for Giant Axonal Neuropathy 1, Autosomal Recessive

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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 298)
# Related Disease Score Top Affiliating Genes
1 eye disease 28.7 GGTLC3 GGT2 GGT1 ACTB
2 diabetes mellitus, noninsulin-dependent 27.8 SERPINF2 GGTLC3 GGT2 GGT1 FOXM1 ACTB
3 giant axonal neuropathy 2, autosomal dominant 12.8
4 giant axonal neuropathy 12.0
5 neuropathy 11.8
6 axonal neuropathy 11.8
7 charcot-marie-tooth disease 11.6
8 peripheral nervous system disease 11.4
9 charcot-marie-tooth disease, axonal, type 2e 11.3
10 spastic paraplegia 76, autosomal recessive 11.3
11 charcot-marie-tooth disease and deafness 11.2
12 retinitis pigmentosa 11.2
13 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.2
14 hereditary spastic paraplegia 11.2
15 neuropathy, hereditary, with liability to pressure palsies 11.1
16 alexander disease 11.1
17 mucopolysaccharidosis, type iiia 11.1
18 mucopolysaccharidosis, type iiib 11.1
19 myopathy, myofibrillar, 6 11.1
20 ataxia-oculomotor apraxia 3 11.1
21 charcot-marie-tooth disease, axonal, type 2t 11.1
22 giant axonal neuropathy 2 11.1
23 cerebellar ataxia type 48 11.1
24 acute inferolateral myocardial infarction 11.1
25 mucopolysaccharidosis iii 11.1
26 histrionic personality disorder 11.1
27 neuromuscular disease 11.1
28 neurotic disorder 11.1
29 asymmetric motor neuropathy 11.1
30 overgrowth syndrome 10.6
31 triiodothyronine receptor auxiliary protein 10.5
32 irritable bowel syndrome 10.3
33 rapidly involuting congenital hemangioma 10.3
34 microvascular complications of diabetes 3 10.2
35 microvascular complications of diabetes 4 10.2
36 microvascular complications of diabetes 6 10.2
37 microvascular complications of diabetes 7 10.2
38 fatty liver disease 10.2
39 neuroaxonal dystrophy 10.2
40 hypotonia 10.2
41 non-alcoholic fatty liver disease 10.2
42 prostatic hypertrophy 10.2
43 liver disease 10.2
44 prostatic hyperplasia, benign 10.2
45 borderline personality disorder 10.2
46 personality disorder 10.2
47 prostatic adenoma 10.2
48 diabetic neuropathy 10.2
49 amyotrophic lateral sclerosis 1 10.2
50 neurodegeneration with brain iron accumulation 2a 10.2

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



Diseases related to Giant Axonal Neuropathy 1, Autosomal Recessive
Sources

Symptoms & Phenotypes for Giant Axonal Neuropathy 1, Autosomal Recessive

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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 talipes equinovarus 58 31 Frequent (79-30%) HP:0001762
4 facial palsy 58 31 Frequent (79-30%) HP:0010628
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 pes planus 31 HP:0001763
11 abnormal pyramidal sign 31 HP:0007256
12 spasticity 58 Frequent (79-30%)
13 genu valgum 58 Occasional (29-5%)
14 nystagmus 31 HP:0000639
15 hyperreflexia 31 HP:0001347
16 joint hypermobility 58 Very frequent (99-80%)
17 dysarthria 31 HP:0001260
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 distal amyotrophy 31 HP:0003693
23 woolly hair 58 Frequent (79-30%)
24 abnormal hand morphology 58 Frequent (79-30%)
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 abnormality of the achilles tendon 58 Very frequent (99-80%)
31 curly hair 31 HP:0002212
32 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
33 cns hypomyelination 58 Very frequent (99-80%)
34 sensory axonal neuropathy 31 HP:0003390
35 limb muscle weakness 58 Occasional (29-5%)
36 abnormality of the pituitary gland 58 Occasional (29-5%)
37 falls 58 Occasional (29-5%)
38 diffuse axonal swelling 58 Very frequent (99-80%)
39 areflexia of lower limbs 31 HP:0002522
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:

56
Skeletal Spine:
scoliosis

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 Feet:
pes planus
talipes equinovarus
pes cavus
foot deformities

Neurologic Central Nervous System:
hyperreflexia
dysarthria
spastic paraplegia
cerebellar signs
pyramidal signs
more
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

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


neuralgia, facial paresis, abnormal pyramidal signs, cerebellar signs
Sources

Drugs & Therapeutics for Giant Axonal Neuropathy 1, Autosomal Recessive

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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 Intrathecal Delivery of scAAV9/JeT-GAN
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

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Genetic Tests for Giant Axonal Neuropathy 1, Autosomal Recessive

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

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

Anatomical Context for Giant Axonal Neuropathy 1, Autosomal Recessive

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

40
Cerebellum, Pituitary, Skin
Sources

Publications for Giant Axonal Neuropathy 1, Autosomal Recessive

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Articles related to Giant Axonal Neuropathy 1, Autosomal Recessive:

(show all 30)
# Title Authors PMID Year
1
Phenotypic variability in giant axonal neuropathy. 6 56
19231187 2009
2
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. 56 6
11053687 2000
3
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. 56 6
11062483 2000
4
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. 56 6
2153943 1990
5
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. 56
20949505 2010
6
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. 56
18595793 2008
7
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. 56
12668605 2003
8
Giant Axonal Neuropathy 6
20301315 2003
9
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. 6
11971098 2002
10
Giant axonal neuropathy locus refinement to a < 590 kb critical interval. 56
10909853 2000
11
Localization of the giant axonal neuropathy gene to chromosome 16q24. 56
9450783 1998
12
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. 56
10732815 1997
13
Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy. 56
8635201 1996
14
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. 56
8072681 1994
15
Giant axonal neuropathy: observations on a further patient. 56
2849642 1988
16
Childhood giant axonal neuropathy. Case report and review of the literature. 56
2831308 1987
17
Congenital giant axonal neuropathy. 56
2990373 1985
18
Giant axonal neuropathy: an inborn error of organization of intermediate filaments. 56
6280044 1982
19
Clinical progression of giant-axonal neuropathy over a twelve year period. 56
7326612 1981
20
Inherited canine giant axonal neuropathy. 56
6264288 1981
21
Giant axonal neuropathy. Involvement of peripheral nerve, myenteric plexus and extra-neuronal area. 56
199032 1977
22
Giant axonal neuropathy: a childhood disorder of microfilaments. 56
214018 1977
23
Gian axonal neuropathy--a generalized disorder of cytoplasmic microfilament formation. 56
180266 1976
24
Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system. 56
168514 1975
25
Giant axonal neuropathy. A clinically and morphologically distinct neurological disease. 56
4153361 1974
26
Giant axonal neuropathy -- a third case. 56
4377753 1974
27
Giant axonal neuropathy. 56
4339350 1972
28
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. 56
5044004 1972
29
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
30
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. 61
12398836 2002
Sources

Variations for Giant Axonal Neuropathy 1, Autosomal Recessive

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

6 (show top 50) (show all 295) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAN NM_022041.3(GAN):c.1502+1G>TSNV Pathogenic 465389 rs1555511978 16:81399084-81399084 16:81365479-81365479
2 GAN NM_022041.3(GAN):c.1157del (p.Lys386fs)deletion Pathogenic 465385 rs1555511861 16:81397466-81397466 16:81363861-81363861
3 GAN NC_000016.9:g.(?_80623263)_(81411221_?)deldeletion Pathogenic 584186 16:80623263-81411221
4 GAN NM_022041.3(GAN):c.1373+1G>ASNV Pathogenic 689762 16:81398716-81398716 16:81365111-81365111
5 GAN NM_022041.3(GAN):c.806G>A (p.Arg269Gln)SNV Pathogenic 521988 rs759581558 16:81390562-81390562 16:81356957-81356957
6 GAN NC_000016.10:g.(?_81315104)_(81377606_?)deldeletion Pathogenic 832850 16:81348709-81411211
7 GAN NM_022041.3(GAN):c.1456G>A (p.Glu486Lys)SNV Pathogenic 5030 rs119485088 16:81399037-81399037 16:81365432-81365432
8 GAN NM_022041.3(GAN):c.1447C>T (p.Gln483Ter)SNV Pathogenic 5031 rs119485089 16:81399028-81399028 16:81365423-81365423
9 GAN NM_022041.3(GAN):c.601C>T (p.Arg201Ter)SNV Pathogenic 5033 rs119485090 16:81388328-81388328 16:81354723-81354723
10 GAN NM_022041.3(GAN):c.43C>A (p.Arg15Ser)SNV Pathogenic 5036 rs119485093 16:81348761-81348761 16:81315156-81315156
11 GAN NM_022041.3(GAN):c.1429C>T (p.Arg477Ter)SNV Pathogenic 5037 rs119485094 16:81399010-81399010 16:81365405-81365405
12 GAN NM_022041.3(GAN):c.505G>A (p.Glu169Lys)SNV Pathogenic 5038 rs119485095 16:81388232-81388232 16:81354627-81354627
13 GAN NM_022041.3(GAN):c.851+1G>ASNV Pathogenic/Likely pathogenic 246282 rs747291494 16:81390608-81390608 16:81357003-81357003
14 GAN NM_022041.4(GAN):c.633+1G>ASNV Likely pathogenic 873485 16:81388361-81388361 16:81354756-81354756
15 GAN NC_000016.9:g.(81367334_81379355)_(81401689_81410823)deldeletion Likely pathogenic 590797 16:81367334-81410823 16:81333729-81377218
16 GAN NM_022041.4(GAN):c.890C>T (p.Pro297Leu)SNV Likely pathogenic 598941 rs771785420 16:81391453-81391453 16:81357848-81357848
17 GAN NM_022041.3(GAN):c.805C>T (p.Arg269Trp)SNV Likely pathogenic 583275 rs776397915 16:81390561-81390561 16:81356956-81356956
18 GAN NM_022041.3(GAN):c.1323T>C (p.Tyr441=)SNV Conflicting interpretations of pathogenicity 698178 16:81398665-81398665 16:81365060-81365060
19 GAN NM_022041.3(GAN):c.1017G>A (p.Gln339=)SNV Conflicting interpretations of pathogenicity 703695 16:81396147-81396147 16:81362542-81362542
20 GAN NM_022041.3(GAN):c.355A>T (p.Thr119Ser)SNV Conflicting interpretations of pathogenicity 426643 rs141396595 16:81388082-81388082 16:81354477-81354477
21 GAN NM_022041.3(GAN):c.18_19insA (p.Val7fs)insertion Conflicting interpretations of pathogenicity 637533 16:81348736-81348737 16:81315131-81315132
22 GAN NM_022041.3(GAN):c.944C>T (p.Pro315Leu)SNV Conflicting interpretations of pathogenicity 245843 rs144486241 16:81391507-81391507 16:81357902-81357902
23 GAN NM_022041.3(GAN):c.283-14T>CSNV Conflicting interpretations of pathogenicity 261484 rs369700456 16:81387996-81387996 16:81354391-81354391
24 GAN NM_022041.3(GAN):c.634-6C>TSNV Conflicting interpretations of pathogenicity 779783 16:81390384-81390384 16:81356779-81356779
25 GAN NM_022041.3(GAN):c.1445C>T (p.Ala482Val)SNV Conflicting interpretations of pathogenicity 265171 rs146576740 16:81399026-81399026 16:81365421-81365421
26 GAN NM_022041.3(GAN):c.1162C>T (p.Leu388=)SNV Conflicting interpretations of pathogenicity 289457 rs73589395 16:81397474-81397474 16:81363869-81363869
27 GAN NM_022041.3(GAN):c.730A>G (p.Ile244Val)SNV Conflicting interpretations of pathogenicity 157527 rs200749953 16:81390486-81390486 16:81356881-81356881
28 GAN NM_022041.3(GAN):c.413G>A (p.Arg138His)SNV Conflicting interpretations of pathogenicity 5035 rs119485092 16:81388140-81388140 16:81354535-81354535
29 GAN NM_022041.3(GAN):c.1612+12A>GSNV Conflicting interpretations of pathogenicity 320658 rs150344737 16:81410945-81410945 16:81377340-81377340
30 GAN NM_022041.3(GAN):c.1684C>G (p.Pro562Ala)SNV Conflicting interpretations of pathogenicity 374635 rs79901179 16:81411091-81411091 16:81377486-81377486
31 GAN NM_022041.3(GAN):c.*2350T>ASNV Uncertain significance 320713 rs369040399 16:81413551-81413551 16:81379946-81379946
32 GAN NM_022041.3(GAN):c.*2492T>ASNV Uncertain significance 320716 rs886052354 16:81413693-81413693 16:81380088-81380088
33 GAN NM_022041.3(GAN):c.*214C>TSNV Uncertain significance 320666 rs886052338 16:81411415-81411415 16:81377810-81377810
34 GAN NM_022041.3(GAN):c.*1883C>GSNV Uncertain significance 320702 rs76019247 16:81413084-81413084 16:81379479-81379479
35 GAN NM_022041.3(GAN):c.*2280G>CSNV Uncertain significance 320708 rs886052349 16:81413481-81413481 16:81379876-81379876
36 GAN NM_022041.3(GAN):c.*32C>ASNV Uncertain significance 320662 rs200964845 16:81411233-81411233 16:81377628-81377628
37 GAN NM_022041.3(GAN):c.1518C>T (p.Asn506=)SNV Uncertain significance 320657 rs886052333 16:81410839-81410839 16:81377234-81377234
38 GAN NM_022041.3(GAN):c.*291A>GSNV Uncertain significance 320669 rs541752526 16:81411492-81411492 16:81377887-81377887
39 GAN NM_022041.3(GAN):c.*495G>ASNV Uncertain significance 320675 rs558701236 16:81411696-81411696 16:81378091-81378091
40 GAN NM_022041.3(GAN):c.*810C>ASNV Uncertain significance 320680 rs886052342 16:81412011-81412011 16:81378406-81378406
41 GAN NM_022041.3(GAN):c.*544C>GSNV Uncertain significance 320676 rs141552591 16:81411745-81411745 16:81378140-81378140
42 GAN NM_022041.3(GAN):c.*1336G>ASNV Uncertain significance 320690 rs150666164 16:81412537-81412537 16:81378932-81378932
43 GAN NM_022041.3(GAN):c.*1368T>CSNV Uncertain significance 320691 rs568868279 16:81412569-81412569 16:81378964-81378964
44 GAN NM_022041.3(GAN):c.*2019A>GSNV Uncertain significance 320705 rs886052347 16:81413220-81413220 16:81379615-81379615
45 GAN NM_022041.3(GAN):c.*2457T>CSNV Uncertain significance 320714 rs886052352 16:81413658-81413658 16:81380053-81380053
46 GAN NM_022041.3(GAN):c.*2485A>GSNV Uncertain significance 320715 rs886052353 16:81413686-81413686 16:81380081-81380081
47 GAN NM_022041.3(GAN):c.*551C>TSNV Uncertain significance 320677 rs886052341 16:81411752-81411752 16:81378147-81378147
48 GAN NM_022041.3(GAN):c.444C>T (p.His148=)SNV Uncertain significance 320653 rs764605890 16:81388171-81388171 16:81354566-81354566
49 GAN NM_022041.3(GAN):c.-126T>CSNV Uncertain significance 320644 rs886052330 16:81348593-81348593 16:81314988-81314988
50 GAN NM_022041.3(GAN):c.1084G>A (p.Glu362Lys)SNV Uncertain significance 157535 rs587779384 16:81396214-81396214 16:81362609-81362609

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

73 (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

Sources

Expression for Giant Axonal Neuropathy 1, Autosomal Recessive

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

Pathways for Giant Axonal Neuropathy 1, Autosomal Recessive

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

# Super pathways Score Top Affiliating Genes
1
NRF2 pathway 1
11.09 SLC6A13 SLC6A11 GGT2 GGT1
2
Eicosanoid Synthesis 1
10.64 GGT2 GGT1
3
Aflatoxin activation and detoxification 65
10.52 GGT2 GGT1
4
Benzodiazepine Pathway, Pharmacodynamics 60
Show member pathways
 10.21 SLC6A13 SLC6A11
Sources

GO Terms for Giant Axonal Neuropathy 1, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 SLC6A13 SERPINF2 PSMB8 GGTLC3 GGT2 GGT1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.77 PSMB8 IHH GGTLC3 GGT2 GGT1
2 response to lipopolysaccharide GO:0032496 9.65 SMAD6 GGT2 GGT1
3 response to estradiol GO:0032355 9.58 IHH GGT2 GGT1
4 response to tumor necrosis factor GO:0034612 9.49 GGT2 GGT1
5 positive regulation of collagen biosynthetic process GO:0032967 9.46 SERPINF2 IHH
6 zymogen activation GO:0031638 9.43 GGT2 GGT1
7 regulation of immune system process GO:0002682 9.32 GGT2 GGT1
8 gamma-aminobutyric acid transport GO:0015812 9.26 SLC6A13 SLC6A11
9 peptide modification GO:0031179 9.16 GGT2 GGT1
10 glutathione catabolic process GO:0006751 9.13 GGTLC3 GGT2 GGT1
11 leukotriene D4 biosynthetic process GO:1901750 8.8 GGTLC3 GGT2 GGT1

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter:sodium symporter activity GO:0005328 9.37 SLC6A13 SLC6A11
2 Tat protein binding GO:0030957 9.32 NPM1 ACTB
3 neurotransmitter binding GO:0042165 9.26 SLC6A13 SLC6A11
4 gamma-aminobutyric acid:sodium symporter activity GO:0005332 9.16 SLC6A13 SLC6A11
5 peptidyltransferase activity GO:0000048 8.96 GGT2 GGT1
6 glutathione hydrolase activity GO:0036374 8.8 GGTLC3 GGT2 GGT1
Sources

Sources for Giant Axonal Neuropathy 1, Autosomal Recessive

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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