MCID: GRS015
MIFTS: 10

Gars1-Associated Axonal Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Gars1-Associated Axonal Neuropathy

MalaCards integrated aliases for Gars1-Associated Axonal Neuropathy:

Name: Gars1-Associated Axonal Neuropathy 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance is incomplete in this disorder, although specific data are not available.

Classifications:



Summaries for Gars1-Associated Axonal Neuropathy

MalaCards based summary : Gars1-Associated Axonal Neuropathy is related to neuronopathy, distal hereditary motor, type va and charcot-marie-tooth disease, axonal, type 2d. An important gene associated with Gars1-Associated Axonal Neuropathy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin). Affiliated tissues include testes.

GeneReviews: NBK1242

Related Diseases for Gars1-Associated Axonal Neuropathy

Diseases related to Gars1-Associated Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type va 10.3
2 charcot-marie-tooth disease, axonal, type 2d 10.3
3 spinal muscular atrophy 10.3
4 axonal neuropathy 10.3
5 muscular atrophy 10.3
6 neuropathy 10.3
7 charcot-marie-tooth hereditary neuropathy 10.3
8 foot drop 10.3

Graphical network of the top 20 diseases related to Gars1-Associated Axonal Neuropathy:



Diseases related to Gars1-Associated Axonal Neuropathy

Symptoms & Phenotypes for Gars1-Associated Axonal Neuropathy

Drugs & Therapeutics for Gars1-Associated Axonal Neuropathy

Search Clinical Trials , NIH Clinical Center for Gars1-Associated Axonal Neuropathy

Genetic Tests for Gars1-Associated Axonal Neuropathy

Anatomical Context for Gars1-Associated Axonal Neuropathy

MalaCards organs/tissues related to Gars1-Associated Axonal Neuropathy:

41
Testes

Publications for Gars1-Associated Axonal Neuropathy

Articles related to Gars1-Associated Axonal Neuropathy:

(show all 28)
# Title Authors PMID Year
1
Updating the classification of inherited neuropathies: Results of an international survey. 4
29429969 2018
2
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. 4
29415205 2018
3
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. 4
28633377 2017
4
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. 4
28675565 2017
5
Timing, rates and spectra of human germline mutation. 4
26656846 2016
6
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 4
26392352 2015
7
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 4
25168514 2014
8
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 4
25614874 2014
9
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. 4
23279345 2012
10
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. 4
22462675 2012
11
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. 4
20169446 2010
12
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. 4
19329989 2009
13
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. 4
17663003 2007
14
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. 4
17101916 2006
15
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 4
16982418 2006
16
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. 4
16769947 2006
17
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 4
16534118 2006
18
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. 4
16014653 2005
19
Molecular genetics of distal hereditary motor neuropathies. 4
15358725 2004
20
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 4
15122253 2004
21
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 4
12690580 2003
22
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 4
10400924 1999
23
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. 4
9879677 1998
24
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 4
8872480 1996
25
Glycyl-tRNA synthetase. 4
8839980 1996
26
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 4
8541851 1995
27
Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis. 4
7961834 1994
28
GARS1-Associated Axonal Neuropathy 38
20301420 2006

Variations for Gars1-Associated Axonal Neuropathy

Expression for Gars1-Associated Axonal Neuropathy

Search GEO for disease gene expression data for Gars1-Associated Axonal Neuropathy.

Pathways for Gars1-Associated Axonal Neuropathy

GO Terms for Gars1-Associated Axonal Neuropathy

Sources for Gars1-Associated Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
45 MESH via Orphanet
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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