MCID: SPS163
MIFTS: 19

Spastic Ataxia 3

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Ataxia 3

MalaCards integrated aliases for Spastic Ataxia 3:

Name: Spastic Ataxia 3 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050942

Summaries for Spastic Ataxia 3

Disease Ontology : 12 A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has material basis in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.

MalaCards based summary : Spastic Ataxia 3 is related to spastic ataxia 3, autosomal recessive and spastic ataxia. An important gene associated with Spastic Ataxia 3 is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is Selenocompound metabolism.

Related Diseases for Spastic Ataxia 3

Graphical network of the top 20 diseases related to Spastic Ataxia 3:



Diseases related to Spastic Ataxia 3

Symptoms & Phenotypes for Spastic Ataxia 3

Drugs & Therapeutics for Spastic Ataxia 3

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 3

Genetic Tests for Spastic Ataxia 3

Anatomical Context for Spastic Ataxia 3

Publications for Spastic Ataxia 3

Articles related to Spastic Ataxia 3:

# Title Authors PMID Year
1
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. 6
22448145 2012

Variations for Spastic Ataxia 3

ClinVar genetic disease variations for Spastic Ataxia 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MARS2 NM_138395.4(MARS2):c.682_949del (p.Gly228fs) Deletion Pathogenic 100659 rs1553608221 GRCh37: 2:198570810-198571077
GRCh38: 2:197706086-197706353
2 MARS2 GRCh38/hg38 2q33.1(chr2:197705406-197707187) copy number gain Pathogenic 100660 GRCh37: 2:198570130-198571911
GRCh38: 2:197705406-197707187
3 MARS2 MARS2, DUP2 Duplication Pathogenic 100661 GRCh37:
GRCh38:
4 MARS2 NM_138395.4(MARS2):c.376C>T (p.Gln126Ter) SNV Pathogenic 1027710 GRCh37: 2:198570505-198570505
GRCh38: 2:197705781-197705781
5 MARS2 NM_138395.4(MARS2):c.799C>T (p.Pro267Ser) SNV Uncertain significance 638360 rs1574775779 GRCh37: 2:198570928-198570928
GRCh38: 2:197706204-197706204
6 MARS2 NM_138395.4(MARS2):c.341G>T (p.Cys114Phe) SNV Uncertain significance 638464 rs1574775353 GRCh37: 2:198570470-198570470
GRCh38: 2:197705746-197705746

Expression for Spastic Ataxia 3

Search GEO for disease gene expression data for Spastic Ataxia 3.

Pathways for Spastic Ataxia 3

Pathways related to Spastic Ataxia 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.85 MARS2 MARS1

GO Terms for Spastic Ataxia 3

Biological processes related to Spastic Ataxia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial translational termination GO:0070126 9.32 MTRF1L MTRF1
2 tRNA aminoacylation for protein translation GO:0006418 9.26 MARS2 MARS1
3 translation GO:0006412 9.26 MTRF1L MTRF1 MARS2 MARS1
4 translational termination GO:0006415 9.16 MTRF1L MTRF1
5 methionyl-tRNA aminoacylation GO:0006431 8.62 MARS2 MARS1

Molecular functions related to Spastic Ataxia 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminoacyl-tRNA ligase activity GO:0004812 9.16 MARS2 MARS1
2 translation release factor activity GO:0003747 8.96 MTRF1L MTRF1
3 methionine-tRNA ligase activity GO:0004825 8.62 MARS2 MARS1

Sources for Spastic Ataxia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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