MCID: SPS136
MIFTS: 23

Spastic Ataxia 3, Autosomal Recessive

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

Aliases & Classifications for Spastic Ataxia 3, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 3, Autosomal Recessive:

Name: Spastic Ataxia 3, Autosomal Recessive 57 75
Ataxia, Spastic, 3, Autosomal Recessive 29 13 6 73
Spax3 57 59 75
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy 57 59
Arsal 57 59
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy; Arsal 57
Autosomal Recessive Spastic Ataxia Type 3 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic ataxia with leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
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:

32
spastic ataxia 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Ataxia 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, is also known as ataxia, spastic, 3, autosomal recessive, and has symptoms including cerebellar ataxia, muscle spasticity and gait ataxia. An important gene associated with Spastic Ataxia 3, Autosomal Recessive is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are spasticity and hyperreflexia

Description from OMIM: 611390

Related Diseases for Spastic Ataxia 3, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 3, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysmetria
cerebellar atrophy
cerebellar ataxia
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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 Frequent (79-30%) HP:0001257
2 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
3 scoliosis 59 32 very rare (1%) Frequent (79-30%) HP:0002650
4 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
5 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
6 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
9 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
10 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
11 horizontal nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000666
12 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
13 spastic ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002497
14 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
15 urinary urgency 59 32 very rare (1%) Frequent (79-30%) HP:0000012
16 leukoencephalopathy 59 32 very rare (1%) Frequent (79-30%) HP:0002352
17 dysarthria 32 very rare (1%) HP:0001260
18 cognitive impairment 32 HP:0100543
19 cerebellar atrophy 32 HP:0001272
20 mild hearing impairment 32 HP:0012712

UMLS symptoms related to Spastic Ataxia 3, Autosomal Recessive:


cerebellar ataxia, muscle spasticity, gait 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 29 MARS2

Anatomical Context for Spastic Ataxia 3, Autosomal Recessive

Publications for Spastic Ataxia 3, Autosomal Recessive

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.682_949del268 (p.Gly228Profs) deletion Pathogenic GRCh38 Chromosome 2, 197706087: 197706354
3 MARS2 NM_138395.3(MARS2): c.1_1782dup1782 copy number gain Pathogenic GRCh38 Chromosome 2, 197705406: 197707187
4 MARS2 NM_138395.3(MARS2): c.1_1782dup1782 copy number gain Pathogenic GRCh37 Chromosome 2, 198570130: 198571911
5 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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