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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

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

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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

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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 9, Autosomal Recessive	Spastic Ataxia 1
Spastic Ataxia 2	Spastic Ataxia 3
Spastic Ataxia 4	Spastic Ataxia 5
Spastic Ataxia 7	Spastic Ataxia 8
Autosomal Dominant Spastic Ataxia	Autosomal Recessive Spastic Ataxia

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

#	Related Disease	Score
1	leigh syndrome	9.9
2	ataxia and polyneuropathy, adult-onset	9.9
3	spastic ataxia 3	9.9
4	hereditary ataxia	9.9
5	spastic ataxia	9.9
6	autosomal recessive spastic ataxia	9.9

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

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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

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Drugs & Therapeutics for Spastic Ataxia 3, Autosomal Recessive

Search Clinical Trials , 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

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

⁴⁰

Eye

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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	Bayat V...Bellen HJ	22448145	2012
2	A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. ⁵⁷	Thiffault I...Brais B	16672289	2006

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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	PubMed IDs
1	MARS2	Methionyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1357.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ 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	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

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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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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Spastic Ataxia 3, Autosomal Recessive (SPAX3)

Aliases & Classifications for Spastic Ataxia 3, Autosomal Recessive

MalaCards integrated aliases for Spastic Ataxia 3, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spastic Ataxia 3, Autosomal Recessive

Related Diseases for Spastic Ataxia 3, Autosomal Recessive

Diseases in the Spastic Ataxia family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Spastic Ataxia 3, Autosomal Recessive:

Drugs & Therapeutics for Spastic Ataxia 3, Autosomal Recessive

Genetic Tests for Spastic Ataxia 3, Autosomal Recessive

Genetic tests related to Spastic Ataxia 3, Autosomal Recessive:

Anatomical Context for Spastic Ataxia 3, Autosomal Recessive

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

Publications for Spastic Ataxia 3, Autosomal Recessive

Articles related to Spastic Ataxia 3, Autosomal Recessive:

Genes for Spastic Ataxia 3, Autosomal Recessive

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

Variations for Spastic Ataxia 3, Autosomal Recessive

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

Expression 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