MCID: GRS015
MIFTS: 11

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 spinal muscular atrophy and muscular atrophy. 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

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:

40
Testes

Publications for Gars1-Associated Axonal Neuropathy

Articles related to Gars1-Associated Axonal Neuropathy:

(show all 29)
# Title Authors PMID Year
1
Updating the classification of inherited neuropathies: Results of an international survey. 24
29429969 2018
2
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. 24
29415205 2018
3
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. 24
28633377 2017
4
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. 24
28675565 2017
5
Timing, rates and spectra of human germline mutation. 24
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. 24
26392352 2015
7
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 24
25614874 2014
8
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. 24
25168514 2014
9
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. 24
23279345 2012
10
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. 24
22462675 2012
11
Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. 24
20169446 2010
12
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. 24
19329989 2009
13
Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. 24
18797198 2008
14
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. 24
17663003 2007
15
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. 24
17101916 2006
16
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 24
16982418 2006
17
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. 24
16769947 2006
18
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. 24
16534118 2006
19
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. 24
16014653 2005
20
Molecular genetics of distal hereditary motor neuropathies. 24
15358725 2004
21
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. 24
15122253 2004
22
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. 24
12690580 2003
23
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. 24
10400924 1999
24
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. 24
9879677 1998
25
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). 24
8872480 1996
26
Glycyl-tRNA synthetase. 24
8839980 1996
27
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. 24
8541851 1995
28
Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis. 24
7961834 1994
29
GARS1-Associated Axonal Neuropathy 61
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 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
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