Spastic Ataxia 3, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 611390

Orphanet ⁵⁹ ORPHA314603

ICD10 via Orphanet ³⁴ G11.4

UMLS via Orphanet ⁷⁴ C1969645

MedGen ⁴² C1969645

MeSH ⁴⁴ D002524

UMLS ⁷³ C1969645

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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

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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
Spastic Ataxia 8

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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

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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

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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

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Anatomical Context for Spastic Ataxia 3, Autosomal Recessive

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Publications for Spastic Ataxia 3, Autosomal Recessive

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Genes for Spastic Ataxia 3, Autosomal Recessive

Genes related to Spastic Ataxia 3, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MARS2	Methionyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1368.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)	22448145

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Variations for Spastic Ataxia 3, Autosomal Recessive

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

⁶

#	Gene	Variation	Type	Significance	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

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Expression for Spastic Ataxia 3, Autosomal Recessive

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

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Pathways for Spastic Ataxia 3, Autosomal Recessive

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GO Terms for Spastic Ataxia 3, Autosomal Recessive

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Sources for Spastic Ataxia 3, Autosomal Recessive

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