SPAX3
MCID: SPS136
MIFTS: 27

Spastic Ataxia 3, Autosomal Recessive (SPAX3)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 72
Ataxia, Spastic, 3, Autosomal Recessive 29 6 70
Spax3 57 58 72
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy 57 58
Arsal 57 58
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy; Arsal 57
Autosomal Recessive Spastic Ataxia Type 3 58
Ataxia, Spastic 3, Autosomal Recessive 13

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic ataxia with leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 611390
OMIM Phenotypic Series 57 PS108600
MeSH 44 D002524
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 71 C1969645
Orphanet 58 ORPHA314603
MedGen 41 C1969645
UMLS 70 C1969645

Summaries for Spastic Ataxia 3, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 leigh syndrome and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia, muscle spasticity and cerebellar ataxia. An important gene associated with Spastic Ataxia 3, Autosomal Recessive is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include eye, and related phenotypes are hyperreflexia and cerebellar hypoplasia

More information from OMIM: 611390 PS108600

Related Diseases for Spastic Ataxia 3, Autosomal Recessive

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



Diseases related to Spastic Ataxia 3, Autosomal Recessive

Symptoms & Phenotypes for Spastic Ataxia 3, Autosomal Recessive

Human phenotypes related to Spastic Ataxia 3, Autosomal Recessive:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
3 spastic ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002497
4 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
7 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
8 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
9 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
10 leukoencephalopathy 58 31 very rare (1%) Frequent (79-30%) HP:0002352
11 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
12 horizontal nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000666
13 urinary urgency 58 31 very rare (1%) Frequent (79-30%) HP:0000012
14 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
15 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
16 dysarthria 31 very rare (1%) HP:0001260
17 spasticity 58 31 Frequent (79-30%) HP:0001257
18 cognitive impairment 31 HP:0100543
19 cerebellar atrophy 31 HP:0001272
20 mild hearing impairment 31 HP:0012712

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Spastic Ataxia 3, Autosomal Recessive:


gait ataxia; muscle spasticity; cerebellar ataxia

Drugs & Therapeutics for Spastic Ataxia 3, Autosomal Recessive

Search Clinical Trials , 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

MalaCards organs/tissues related to Spastic Ataxia 3, Autosomal Recessive:

40
Eye

Publications for Spastic Ataxia 3, Autosomal Recessive

Articles related to Spastic Ataxia 3, Autosomal Recessive:

# 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. 61 6 57
22448145 2012
2
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. 57
16672289 2006

Variations for Spastic Ataxia 3, Autosomal Recessive

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

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, 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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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