MCID: GNT009
MIFTS: 43

Giant Axonal Neuropathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Giant Axonal Neuropathy

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Sources:
19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet
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Giant Axonal Neuropathy, Aliases & Descriptions:

Name: Giant Axonal Neuropathy 19 41 21 42 47
Neuropathy, Giant Axonal 41 20 21 43 22
Giant Axonal Neuropathy 1 41 60
 
Gan 41 21
Gan1 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
giant axonal neuropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 643
MESH via Orphanet34 D056768
ICD10 via Orphanet26 G60.8

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

Wikipedia:63 Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization... more...

GeneReviews summary for gan

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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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:

31
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:

35
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 with predominant central nervous system manifestations. (1310292)
1992
30
Giant axonal neuropathy: progressive clinical and radiologic CNS involvement. (1436544)
1992
31
Giant axonal neuropathy: report on a case with focal fiber loss. (1621511)
1992
32
Anaesthesia for a patient with giant axonal neuropathy. (2048666)
1991
33
Giant axonal neuropathy and leukodystrophy. (2029298)
1991
34
Giant axonal neuropathy: studies with sulfhydryl donor compounds. (2324766)
1990
35
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. (2153943)
1990
36
Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. (3204412)
1988
37
Characterization of the intermediate filament apparatus in skin fibroblasts from patients with giant axonal neuropathy: effect of trypsin. (3308126)
1987
38
Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. (3010802)
1986
39
Congenital giant axonal neuropathy. (2990373)
1985
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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Clinvar genetic disease variations for Giant Axonal Neuropathy:

6
id Gene Variation 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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Search GEO for disease gene expression data for Giant Axonal Neuropathy.

Pathways for genes affiliated with Giant Axonal Neuropathy

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Compounds for genes affiliated with Giant Axonal Neuropathy

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

(show all 36)
idCompoundScoreTop Affiliating Genes
1formate439.7RPS27A, TUBB
2malate439.7RPS27A, TUBB
3sodium dodecylsulfate439.6RPS27A, TUBB
4phalloidin439.5VIM, TUBB
5vinblastine43 49 1211.4VIM, TUBB
6colchicine43 59 2 28 1213.4VIM, TUBB
7fluorochrome439.4RPS27A, VIM
8nocodazole43 1210.4TUBB, VIM
9carbon439.4RPS27A, TUBB
10n-(4-hydroxyphenyl)retinamide439.4VIM, RPS27A
11streptozotocin439.4RPS27A, VIM
12hematoxylin439.4RPS27A, VIM
13vincristine43 49 1211.4TUBB, VIM
14bromodeoxyuridine439.3TUBB, VIM
15biotin43 24 1211.3RPS27A, VIM
16okadaic acid43 5910.1VIM, TUBB
175-aza-2deoxycytidine439.0RPS27A, VIM
18glycerol43 24 1211.0RPS27A, TUBB
19gdp439.0TUBB, VIM
20thymidylate438.9RPS27A, VIM, TUBB
21formaldehyde43 249.9TUBB, VIM, RPS27A
22valine438.9RPS27A, VIM, TUBB
23gaba438.9TUBB, VIM, RPS27A
24paraffin438.9TUBB, VIM, RPS27A
25glutamine438.9TUBB, VIM, RPS27A
26lysine438.9RPS27A, VIM, TUBB
27lactate438.9TUBB, VIM, RPS27A
28creatinine438.9RPS27A, VIM, TUBB
29adenylate438.9RPS27A, VIM, TUBB
30h2o2438.8TUBB, VIM, RPS27A
31testosterone43 59 24 1211.8TUBB, VIM, RPS27A
32glutamate438.8RPS27A, VIM, TUBB
33alanine438.8TUBB, VIM, RPS27A
34estrogen438.7RPS27A, VIM, TUBB
35atp43 289.7RPS27A, VIM, TUBB
36cysteine438.6TUBB, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058568.4GAN, VIM, TUBB
2cytosolGO:00058298.0BAG3, RPS27A, VIM, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1G2/M transition of mitotic cell cycleGO:00000869.3RPS27A, TUBB
2cellular component movementGO:00069288.8VIM, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1protein complex bindingGO:00324039.4BAG3, TUBB
2structural constituent of cytoskeletonGO:00052008.8VIM, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet