GAN
MCID: GNT009
MIFTS: 55

Giant Axonal Neuropathy (GAN) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Giant Axonal Neuropathy

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Genetics Home Reference:21 Giant axonal neuropathy is an inherited condition involving dysfunction of a specific type of protein in nerve cells (neurons). The protein is essential for normal nerve function because it forms neurofilaments. Neurofilaments make up a structural framework that helps to define the shape and size of the neurons. This condition is characterized by abnormally large and dysfunctional axons, which are the specialized extensions of nerve cells that are required for the transmission of nerve impulses.

MalaCards based summary: Giant Axonal Neuropathy, also known as neuropathy, giant axonal, is related to neuroaxonal dystrophy and axonal neuropathy, and has symptoms including An important gene associated with Giant Axonal Neuropathy is GAN (gigaxonin), and among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Cytoplasmic microtubules. The compounds formate and malate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotype muscle.

NINDS:43 Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems.

Wikipedia:65 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

Description from OMIM:46 256850

GeneReviews summary for gan

Aliases & Classifications for Giant Axonal Neuropathy

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Giant Axonal Neuropathy, Aliases & Descriptions:

Name: Giant Axonal Neuropathy 19 42 21 43 48
Neuropathy, Giant Axonal 42 20 22 21 44
Giant Axonal Neuropathy 1 42 62
 
Gan 42 21
Giant Axonal Neuropathy-1 46
Gan1 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
giant axonal neuropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 256850
MESH via Orphanet35 D056768
ICD10 via Orphanet26 G60.8

Related Diseases for Giant Axonal Neuropathy

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



Diseases related to giant axonal neuropathy

Symptoms for Giant Axonal Neuropathy

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Symptoms by clinical synopsis from OMIM:

256850

Clinical features from OMIM:

256850

HPO human phenotypes related to Giant Axonal Neuropathy:

(show all 28)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 nystagmus HP:0000639
3 abnormality of the hand HP:0001155
4 intellectual disability HP:0001249
5 spastic paraplegia HP:0001258
6 dysarthria HP:0001260
7 abnormality of the cerebellum HP:0001317
8 hyperreflexia HP:0001347
9 pes cavus HP:0001761
10 talipes equinovarus HP:0001762
11 pes planus HP:0001763
12 morphological abnormality of the pyramidal tract HP:0002062
13 curly hair HP:0002212
14 distal muscle weakness HP:0002460
15 areflexia of lower limbs HP:0002522
16 hyporeflexia of lower limbs HP:0002600
17 scoliosis HP:0002650
18 distal sensory impairment HP:0002936
19 steppage gait HP:0003376
20 decreased number of peripheral myelinated nerve fibers HP:0003380
21 sensory axonal neuropathy HP:0003390
22 juvenile onset HP:0003621
23 slow progression HP:0003677
24 distal amyotrophy HP:0003693
25 proximal muscle weakness HP:0003701
26 phenotypic variability HP:0003812
27 motor axonal neuropathy HP:0007002
28 facial palsy HP:0010628

Drugs & Therapeutics for Giant Axonal Neuropathy

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Drug clinical trials:

Search ClinicalTrials for Giant Axonal Neuropathy

Search NIH Clinical Center for Giant Axonal Neuropathy

Genetic Tests for Giant Axonal Neuropathy

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Genetic tests related to Giant Axonal Neuropathy:

id Genetic test Affiliating Genes
1 Giant Axonal Neuropathy20 22 GAN

Anatomical Context for Giant Axonal Neuropathy

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MalaCards organs/tissues related to Giant Axonal Neuropathy:

32
Skin, Bone marrow, Bone, Brain, Testes, Endothelial, Globus pallidus

Animal Models for Giant Axonal Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Giant Axonal Neuropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7GAN, BAG3, VIM

Publications for Giant Axonal Neuropathy

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Articles related to Giant Axonal Neuropathy:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Giant Axonal Neuropathy. (25213662)
2014
2
Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues. (25216920)
2014
3
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis. (24947478)
2014
4
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy. (23890932)
2014
5
Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. (25040701)
2014
6
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. (24758703)
2014
7
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
8
Explaining intermediate filament accumulation in giant axonal neuropathy. (25003002)
2013
9
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family. (23332420)
2013
10
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. (23585478)
2013
11
Giant axonal neuropathy. (23931822)
2013
12
Involvement of the globus pallidus in giant axonal neuropathy. (23044025)
2012
13
Clinicogenetical features of a Japanese patient with giant axonal neuropathy. (21356581)
2012
14
Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. (20949505)
2010
15
Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies. (19439850)
2009
16
Clinical and genetic studies in a Chinese family with giant axonal neuropathy. (19295179)
2009
17
Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. (18595793)
2008
18
Anesthesia for a child with giant axonal neuropathy. (17181534)
2007
19
Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. (17331252)
2007
20
Giant axonal neuropathy. (17256086)
2007
21
Giant axonal neuropathy in two siblings: clinical histopathological findings. (15696785)
2005
22
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. (12536033)
2003
23
Giant axonal neuropathy and anaesthesia. (12790832)
2003
24
Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. (12398836)
2002
25
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
26
Giant axonal neuropathy locus refinement to a &lt; 590 kb critical interval. (10909853)
2000
27
Localization of the giant axonal neuropathy gene to chromosome 16q24. (9450783)
1998
28
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. (10732815)
1997
29
Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. (8072681)
1994
30
Giant axonal neuropathy with predominant central nervous system manifestations. (1310292)
1992
31
Giant axonal neuropathy: progressive clinical and radiologic CNS involvement. (1436544)
1992
32
Giant axonal neuropathy: report on a case with focal fiber loss. (1621511)
1992
33
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
34
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
35
Giant axonal neuropathy: studies with sulfhydryl donor compounds. (2324766)
1990
36
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
37
Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. (3204412)
1988
38
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
39
Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. (3010802)
1986
40
Giant axonal neuropathy. Endocrinological and histological studies. (4054168)
1985
41
Giant axonal neuropathy: intermediate filament aggregates in cultured skin fibroblasts. (6273766)
1981
42
Canine giant axonal neuropathy; some aspects of its clinical, pathological and comparative features. (7031366)
1981
43
Melanocytic involvement in giant axonal neuropathy. (6273462)
1981
44
Clinical progression of giant-axonal neuropathy over a twelve year period. (7326612)
1981
45
Giant axonal neuropathy: combined central and peripheral nervous system disease. (217319)
1979
46
The central nervous system in canine giant axonal neuropathy. (223361)
1979
47
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. (602684)
1977
48
Giant axonal neuropathy: a childhood disorder of microfilaments. (214018)
1977
49
Giant axonal neuropathy -- a third case. (4377753)
1974
50
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. (5044004)
1972

Variations for Giant Axonal Neuropathy

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UniProtKB/Swiss-Prot genetic disease variations for Giant Axonal Neuropathy:

64 (show all 19)
id Symbol AA change Variation ID SNP ID
1GANp.Glu486LysVAR_010757
2GANp.Arg15SerVAR_010759
3GANp.Ser52GlyVAR_010760
4GANp.Ser79LeuVAR_010761
5GANp.Val82PheVAR_010762
6GANp.Arg138HisVAR_010763
7GANp.Arg269GlnVAR_010764
8GANp.Leu309ArgVAR_010765
9GANp.Arg545CysVAR_010766
10GANp.Cys570TyrVAR_010767
11GANp.Ile423ThrVAR_015560
12GANp.Ile86PheVAR_015680
13GANp.Gly368ArgVAR_015681
14GANp.Ala51ProVAR_054113
15GANp.Tyr89CysVAR_054114
16GANp.Val195PheVAR_054115
17GANp.Pro315LeuVAR_054116rs144486241
18GANp.Gly474ArgVAR_054117
19GANp.Arg545HisVAR_054118

Clinvar genetic disease variations for Giant Axonal Neuropathy:

6
id Gene Name Type Significance SNP ID Assembly Location
1GANNM_022041.3(GAN): c.1456G> A (p.Glu486Lys)single nucleotide variantPathogenicrs119485088GRCh37Chr 16, 81399037: 81399037
2GANNM_022041.3(GAN): c.1447C> T (p.Gln483Ter)single nucleotide variantPathogenicrs119485089GRCh37Chr 16, 81399028: 81399028
3GANGAN, 1-BP INS, 18AinsertionPathogenic
4GANNM_022041.3(GAN): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs119485090GRCh37Chr 16, 81388328: 81388328
5GANNM_022041.3(GAN): c.1268T> C (p.Ile423Thr)single nucleotide variantPathogenicrs119485091GRCh37Chr 16, 81398610: 81398610
6GANNM_022041.3(GAN): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs119485092GRCh37Chr 16, 81388140: 81388140
7GANNM_022041.3(GAN): c.43C> A (p.Arg15Ser)single nucleotide variantPathogenicrs119485093GRCh37Chr 16, 81348761: 81348761
8GANNM_022041.3(GAN): c.1429C> T (p.Arg477Ter)single nucleotide variantPathogenicrs119485094GRCh37Chr 16, 81399010: 81399010
9GANNM_022041.3(GAN): c.505G> A (p.Glu169Lys)single nucleotide variantPathogenicrs119485095GRCh37Chr 16, 81388232: 81388232

Expression for genes affiliated with Giant Axonal Neuropathy

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Expression patterns in normal tissues for genes affiliated with Giant Axonal Neuropathy

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Pathways for genes affiliated with Giant Axonal Neuropathy

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Pathways related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3RPS27A, TUBB
2
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.1VIM, TUBB
39.1VIM, TUBB

Compounds for genes affiliated with Giant Axonal Neuropathy

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Compounds related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1formate449.7RPS27A, TUBB
2malate449.7RPS27A, TUBB
3sodium dodecylsulfate449.6RPS27A, TUBB
4phalloidin449.5VIM, TUBB
5vinblastine44 50 1111.4VIM, TUBB
6colchicine44 61 2 28 1113.4VIM, TUBB
7fluorochrome449.4RPS27A, VIM
8nocodazole44 1110.4TUBB, VIM
9carbon449.4RPS27A, TUBB
10n-(4-hydroxyphenyl)retinamide449.4VIM, RPS27A
11streptozotocin449.4RPS27A, VIM
12hematoxylin449.4RPS27A, VIM
13vincristine44 50 1111.4TUBB, VIM
14bromodeoxyuridine449.3TUBB, VIM
15biotin44 24 1111.3RPS27A, VIM
16okadaic acid44 6110.1VIM, TUBB
175-aza-2deoxycytidine449.0RPS27A, VIM
18glycerol44 24 1111.0RPS27A, TUBB
19gdp449.0TUBB, VIM
20thymidylate448.9RPS27A, VIM, TUBB
21formaldehyde44 249.9TUBB, VIM, RPS27A
22valine448.9RPS27A, VIM, TUBB
23gaba448.9TUBB, VIM, RPS27A
24paraffin448.9TUBB, VIM, RPS27A
25glutamine448.9TUBB, VIM, RPS27A
26lysine448.9RPS27A, VIM, TUBB
27lactate448.9TUBB, VIM, RPS27A
28creatinine448.9RPS27A, VIM, TUBB
29adenylate448.9RPS27A, VIM, TUBB
30h2o2448.8TUBB, VIM, RPS27A
31testosterone44 61 24 1111.8TUBB, VIM, RPS27A
32glutamate448.8RPS27A, VIM, TUBB
33alanine448.8TUBB, VIM, RPS27A
34estrogen448.7RPS27A, VIM, TUBB
35atp44 289.7RPS27A, VIM, TUBB
36cysteine448.6TUBB, VIM, RPS27A

GO Terms for genes affiliated with Giant Axonal Neuropathy

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Cellular components related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:0058568.4GAN, VIM, TUBB
2cytosolGO:0058298.0BAG3, RPS27A, VIM, TUBB

Biological processes related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G2/M transition of mitotic cell cycleGO:0000869.3RPS27A, TUBB
2cellular component movementGO:0069288.8VIM, TUBB

Molecular functions related to Giant Axonal Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:0324039.4BAG3, TUBB
2structural constituent of cytoskeletonGO:0052008.8VIM, TUBB

Products for genes affiliated with Giant Axonal Neuropathy

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Sources for Giant Axonal Neuropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet