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

Sources

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)

Sources

Summaries for Gars1-Associated Axonal Neuropathy

MalaCards based summary : Gars1-Associated Axonal Neuropathy is related to neuronopathy, distal hereditary motor, type va and spinal 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

Sources

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 19)

#	Related Disease	Score	Top Affiliating Genes
1	neuronopathy, distal hereditary motor, type va	29.9	GARS1 BSCL2
2	spinal muscular atrophy	29.9	GARS1 BSCL2
3	muscular atrophy	29.8	GARS1 BSCL2
4	charcot-marie-tooth disease, axonal, type 2d	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	spastic paraplegia 17, autosomal dominant	9.6	GARS1 BSCL2
15	motor peripheral neuropathy	9.6	GARS1 BSCL2
16	charcot-marie-tooth disease and deafness	9.5	GARS1 BSCL2
17	neuropathy, congenital hypomyelinating, 1, autosomal recessive	9.5	GARS1 BSCL2
18	motor neuron disease	9.4	GARS1 BSCL2
19	charcot-marie-tooth disease, axonal, type 2e	9.2	GARS1 BSCL2

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

Sources

Symptoms & Phenotypes for Gars1-Associated Axonal Neuropathy

Sources

Drugs & Therapeutics for Gars1-Associated Axonal Neuropathy

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

Sources

Genetic Tests for Gars1-Associated Axonal Neuropathy

Sources

Anatomical Context for Gars1-Associated Axonal Neuropathy

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

⁴⁰

Testes

Sources

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	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
4	Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. ²⁴	Meyer-Schuman R...Antonellis A	28633377	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

Sources

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	7.38	GeneCards inferred via : Publications (show sections)
2	GARS1	Glycyl-TRNA Synthetase 1	Protein Coding	7.38	GeneCards inferred via : Publications (show sections)

Sources

Variations for Gars1-Associated Axonal Neuropathy

Sources

Expression for Gars1-Associated Axonal Neuropathy

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

Sources

Pathways for Gars1-Associated Axonal Neuropathy

Sources

GO Terms for Gars1-Associated Axonal Neuropathy

Sources

Sources for Gars1-Associated Axonal Neuropathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia