Gars1-Associated Axonal Neuropathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GRS015 MIFTS: 8	Gars1-Associated Axonal Neuropathy Categories: Neuronal diseases
Genes Related diseases Publications Expand all tables

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Aliases & Classifications for Gars1-Associated Axonal Neuropathy

MalaCards integrated aliases for Gars1-Associated Axonal Neuropathy:

Name: Gars1-Associated Axonal Neuropathy ²⁵

Characteristics:

GeneReviews:

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

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

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Summaries for Gars1-Associated Axonal Neuropathy

MalaCards based summary : Gars1-Associated Axonal Neuropathy is related to spinal muscular atrophy and axonal neuropathy. An important gene associated with Gars1-Associated Axonal Neuropathy is GARS1 (Glycyl-TRNA Synthetase 1).

GeneReviews: NBK1242

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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
1	spinal muscular atrophy	10.2
2	axonal neuropathy	10.2
3	muscular atrophy	10.2
4	neuropathy	10.2
5	charcot-marie-tooth hereditary neuropathy	10.2
6	foot drop	10.2

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

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Symptoms & Phenotypes for Gars1-Associated Axonal Neuropathy

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Drugs & Therapeutics for Gars1-Associated Axonal Neuropathy

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

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Genetic Tests for Gars1-Associated Axonal Neuropathy

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Anatomical Context for Gars1-Associated Axonal Neuropathy

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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. ²⁵	Magy L...Vallat JM	29429969	2018
2	HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. ²⁵	Benoy V...Van Den Bosch L	29415205	2018
3	Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. ²⁵	Oprescu SN...Antonellis A	28675565	2017
4	Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. ²⁵	Meyer-Schuman R...Antonellis A	28633377	2017
5	Timing, rates and spectra of human germline mutation. ²⁵	Rahbari R...Hurles ME	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. ²⁵	Antoniadi T...Burton-Jones S	26392352	2015
7	The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. ²⁵	DiVincenzo C...Higgins JJ	25614874	2014
8	Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. ²⁵	Griffin LB...Antonellis A	25168514	2014
9	Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ²⁵	Lee HJ...Chung KW	23279345	2012
10	Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. ²⁵	Eskuri JM...Mathews KD	22462675	2012
11	Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. ²⁵	Hamaguchi A...Yamada M	20169446	2010
12	The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. ²⁵	Abe A...Hayasaka K	19329989	2009
13	Severe neurotoxicities in a case of Charcot-Marie-Tooth disease type 2 caused by vincristine for acute lymphoblastic leukemia. ²⁵	Nishikawa T...Kawano Y	18797198	2008
14	Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. ²⁵	Rohkamm B...Auer-Grumbach M	17663003	2007
15	Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. ²⁵	James PA...Talbot K	17101916	2006
16	An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. ²⁵	Seburn KL...Burgess RW	16982418	2006
17	The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ²⁵	Dubourg O...LeGuern E	16769947	2006
18	Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. ²⁵	Del Bo R...Comi GP	16534118	2006
19	Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. ²⁵	Sivakumar K...Goldfarb LG	16014653	2005
20	Molecular genetics of distal hereditary motor neuropathies. ²⁵	Irobi J...Timmerman V	15358725	2004
21	Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. ²⁵	Irobi J...Timmerman V	15122253	2004
22	Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. ²⁵	Antonellis A...Green ED	12690580	2003
23	The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. ²⁵	Ellsworth RE...Green ED	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. ²⁵	Sambuughin N...Goldfarb LG	9879677	1998
25	Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). ²⁵	Ionasescu V...Ionasescu R	8872480	1996
26	Glycyl-tRNA synthetase. ²⁵	Freist W...Gauss DH	8839980	1996
27	Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. ²⁵	Christodoulou K...Middleton LT	8541851	1995
28	Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis. ²⁵	Ge Q...Targoff IN	7961834	1994
29	GARS1-Associated Axonal Neuropathy ⁶¹	Antonellis A...Sivakumar K	20301420	2006

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Genes for Gars1-Associated Axonal Neuropathy

Genes related to Gars1-Associated Axonal Neuropathy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)

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Variations for Gars1-Associated Axonal Neuropathy

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Expression for Gars1-Associated Axonal Neuropathy

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

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Pathways for Gars1-Associated Axonal Neuropathy

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GO Terms for Gars1-Associated Axonal Neuropathy

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Sources for Gars1-Associated Axonal Neuropathy

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