MCID: SPS136
MIFTS: 24

Spastic Ataxia 3, Autosomal Recessive

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

Aliases & Classifications for Spastic Ataxia 3, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 3, Autosomal Recessive:

Name: Spastic Ataxia 3, Autosomal Recessive 53 71
Ataxia, Spastic, 3, Autosomal Recessive 28 13 69
Spax3 53 55 71
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy 53 55
Arsal 53 55
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy; Arsal 53
Autosomal Recessive Spastic Ataxia Type 3 55

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive spastic ataxia with leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range 2 to 59 years, mean 24 years)
high intrafamilial and interfamilial variability
high frequency among french-canadians
about 50% of patients become wheelchair-bound at an average age of 37 years


HPO:

31
spastic ataxia 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Ataxia 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 Spastic ataxia 3, autosomal recessive: A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.

MalaCards based summary : Spastic Ataxia 3, Autosomal Recessive, also known as ataxia, spastic, 3, autosomal recessive, is related to ataxia and polyneuropathy, adult-onset, and has symptoms including dystonia, gait ataxia and spasticity. An important gene associated with Spastic Ataxia 3, Autosomal Recessive is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial).

Description from OMIM: 611390

Related Diseases for Spastic Ataxia 3, Autosomal Recessive

Diseases in the Spastic Ataxia family:

Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 7, Autosomal Dominant
Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3, Autosomal Recessive
Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5, Autosomal Recessive
Spastic Ataxia 1 Spastic Ataxia 2
Spastic Ataxia 3 Spastic Ataxia 4
Spastic Ataxia 5 Spastic Ataxia 7

Diseases related to Spastic Ataxia 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 9.9

Symptoms & Phenotypes for Spastic Ataxia 3, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
cerebellar ataxia
spasticity
hyperreflexia
dysmetria
cerebellar atrophy
more
Head And Neck Eyes:
nystagmus, horizontal, mild (44%)

Skeletal Spine:
scoliosis (35%)

Head And Neck Ears:
mild hearing impairment (13%)

Genitourinary Bladder:
urinary urgency (57%)


Clinical features from OMIM:

611390

Human phenotypes related to Spastic Ataxia 3, Autosomal Recessive:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dystonia 31 HP:0001332
2 gait ataxia 31 HP:0002066
3 spasticity 31 HP:0001257
4 dysarthria 31 very rare (1%) HP:0001260
5 hyperreflexia 31 HP:0001347
6 scoliosis 31 very rare (1%) HP:0002650
7 hearing impairment 31 HP:0000365
8 cognitive impairment 31 HP:0100543
9 dysmetria 31 HP:0001310
10 cerebral cortical atrophy 31 HP:0002120
11 cerebellar atrophy 31 HP:0001272
12 spastic ataxia 31 HP:0002497
13 horizontal nystagmus 31 HP:0000666
14 urinary urgency 31 very rare (1%) HP:0000012
15 leukoencephalopathy 31 very rare (1%) HP:0002352
16 mild hearing impairment 31 HP:0012712

UMLS symptoms related to Spastic Ataxia 3, Autosomal Recessive:


gait ataxia, muscle spasticity, cerebellar ataxia

Drugs & Therapeutics for Spastic Ataxia 3, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spastic Ataxia 3, Autosomal Recessive

Genetic Tests for Spastic Ataxia 3, Autosomal Recessive

Genetic tests related to Spastic Ataxia 3, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ataxia, Spastic, 3, Autosomal Recessive 28 MARS2

Anatomical Context for Spastic Ataxia 3, Autosomal Recessive

Publications for Spastic Ataxia 3, Autosomal Recessive

Articles related to Spastic Ataxia 3, Autosomal Recessive:

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

Variations for Spastic Ataxia 3, Autosomal Recessive

ClinVar genetic disease variations for Spastic Ataxia 3, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MARS2 NM_138395.3(MARS2): c.682_949del268 (p.Gly228Profs) deletion Pathogenic GRCh37 Chromosome 2, 198570811: 198571078
2 MARS2 NM_138395.3(MARS2): c.1_1782dup1782 copy number gain Pathogenic GRCh38 Chromosome 2, 197705406: 197707187
3 MARS2 MARS2, DUP2 duplication Pathogenic

Expression for Spastic Ataxia 3, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Ataxia 3, Autosomal Recessive.

Pathways for Spastic Ataxia 3, Autosomal Recessive

GO Terms for Spastic Ataxia 3, Autosomal Recessive

Sources for Spastic Ataxia 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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