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 54 71
Ataxia, Spastic, 3, Autosomal Recessive 29 13 69
Spax3 56 71
Autosomal Recessive Spastic Ataxia with Leukoencephalopathy 56
Autosomal Recessive Spastic Ataxia Type 3 56
Arsal 56

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive spastic ataxia with leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
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 : 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 spastic ataxia 3, and has symptoms including scoliosis, dystonia and dysarthria. 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 3, Autosomal Recessive Spastic Ataxia 4, Autosomal Recessive
Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 2, Autosomal Recessive
Spastic Ataxia 5, Autosomal Recessive Spastic Ataxia 7, Autosomal Dominant
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:

id Related Disease Score Top Affiliating Genes
1 spastic ataxia 3 11.2

Symptoms & Phenotypes for Spastic Ataxia 3, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

54

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

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 very rare (1%) HP:0002650
2 dystonia 32 HP:0001332
3 dysarthria 32 very rare (1%) HP:0001260
4 horizontal nystagmus 32 HP:0000666
5 hyperreflexia 32 HP:0001347
6 spasticity 32 HP:0001257
7 cognitive impairment 32 HP:0100543
8 urinary urgency 32 very rare (1%) HP:0000012
9 cerebral cortical atrophy 32 HP:0002120
10 gait ataxia 32 HP:0002066
11 cerebellar atrophy 32 HP:0001272
12 leukoencephalopathy 32 very rare (1%) HP:0002352
13 dysmetria 32 HP:0001310
14 spastic ataxia 32 HP:0002497
15 hearing impairment 32 HP:0000365
16 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:


id 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:

id Genetic test Affiliating Genes
1 Ataxia, Spastic, 3, Autosomal Recessive 29

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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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