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

MCID: GRS015 MIFTS: 11	Gars1-Associated Axonal Neuropathy Categories: Neuronal diseases
Genes Tissues 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 ²⁴

Characteristics:

GeneReviews:

²⁴

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 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

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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:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	spinal muscular atrophy	29.9	GARS1 BSCL2
2	muscular atrophy	29.9	GARS1 BSCL2
3	charcot-marie-tooth disease, axonal, type 2d	29.9	GARS1 BSCL2
4	neuronopathy, distal hereditary motor, type va	29.8	GARS1 BSCL2
5	axonal neuropathy	10.3
6	neuropathy	10.3
7	charcot-marie-tooth hereditary neuropathy	10.3
8	foot drop	10.3
9	bscl2-related neurologic disorders/seipinopathy	9.7	GARS1 BSCL2
10	charcot-marie-tooth disease, axonal, type 2l	9.7	GARS1 BSCL2
11	charcot-marie-tooth disease	9.7	GARS1 BSCL2
12	tooth disease	9.7	GARS1 BSCL2
13	spinal muscular atrophy, distal, autosomal recessive, 2	9.7	GARS1 BSCL2
14	charcot-marie-tooth disease, axonal, type 2f	9.7	GARS1 BSCL2
15	spastic paraplegia 17, autosomal dominant	9.6	GARS1 BSCL2
16	distal hereditary motor neuronopathy type 2	9.6	GARS1 BSCL2
17	autosomal dominant distal hereditary motor neuronopathy	9.6	GARS1 BSCL2
18	motor peripheral neuropathy	9.6	GARS1 BSCL2
19	charcot-marie-tooth disease and deafness	9.5	GARS1 BSCL2
20	neuropathy, congenital hypomyelinating, 1, autosomal recessive	9.5	GARS1 BSCL2
21	neuromuscular disease	9.5	GARS1 BSCL2
22	motor neuron disease	9.4	GARS1 BSCL2
23	charcot-marie-tooth disease, axonal, type 2e	9.2	GARS1 BSCL2

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

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

⁴⁰

Testes

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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. ²⁴	Magy L...Vallat JM	29429969	2018
2	HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease. ²⁴	Benoy V...Van Den Bosch L	29415205	2018
3	Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. ²⁴	Meyer-Schuman R...Antonellis A	28633377	2017
4	Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. ²⁴	Oprescu SN...Antonellis A	28675565	2017
5	Timing, rates and spectra of human germline mutation. ²⁴	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. ²⁴	Antoniadi T...Burton-Jones S	26392352	2015
7	The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. ²⁴	DiVincenzo C...Higgins JJ	25614874	2014
8	Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. ²⁴	Griffin LB...Antonellis A	25168514	2014
9	Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V. ²⁴	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. ²⁴	Eskuri JM...Mathews KD	22462675	2012
11	Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation. ²⁴	Hamaguchi A...Yamada M	20169446	2010
12	The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. ²⁴	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. ²⁴	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. ²⁴	Rohkamm B...Auer-Grumbach M	17663003	2007
15	Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. ²⁴	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. ²⁴	Seburn KL...Burgess RW	16982418	2006
17	The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. ²⁴	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. ²⁴	Del Bo R...Comi GP	16534118	2006
19	Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. ²⁴	Sivakumar K...Goldfarb LG	16014653	2005
20	Molecular genetics of distal hereditary motor neuropathies. ²⁴	Irobi J...Timmerman V	15358725	2004
21	Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. ²⁴	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. ²⁴	Antonellis A...Green ED	12690580	2003
23	The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. ²⁴	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. ²⁴	Sambuughin N...Goldfarb LG	9879677	1998
25	Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). ²⁴	Ionasescu V...Ionasescu R	8872480	1996
26	Glycyl-tRNA synthetase. ²⁴	Freist W...Gauss DH	8839980	1996
27	Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. ²⁴	Christodoulou K...Middleton LT	8541851	1995
28	Primary structure and functional expression of human Glycyl-tRNA synthetase, an autoantigen in myositis. ²⁴	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	PubmedIds
1	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	6.96	GeneCards inferred via : Publications (show sections)
2	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	6.96	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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