ORPHA:314603
Autosomal recessive spastic ataxia with leukoencephalopathy
Synonyms: ARSAL · Autosomal recessive spastic ataxia type 3 · SPAX3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic ataxia with leukoencephalopathy | ARSAL · Autosomal recessive spastic ataxia type 3 · SPAX3 |
| fr | Ataxie spastique autosomique récessive avec leucoencéphalopathie | ARSAL · Ataxie spastique autosomique récessive type 3 · SPAX3 |
| de | Autosomal-rezessive spastische Ataxie mit Leukoenzephalopathie | ARSAL · Ataxie, spastische, autosomal-rezessive, Typ 3 · SPAX3 |
| es | Ataxia espástica autosómica recesiva con leucoencefalopatía | ARSAL · Ataxia espástica autosómica recesiva tipo 3 · SPAX3 |
| it | Atassia spastica autosomica recessiva con leucoencefalopatia | ARSAL · Atassia spastica autosomica recessiva, tipo 3 · SPAX3 |
| nl | Autosomaal recessieve spastische ataxie met leuko-encefalopathie | ARSAL · Autosomaal recessieve spastische ataxie type 3 · SPAX3 |
| pt | Ataxia espástica autossómica recessiva com leucoencefalopatia | ARSAL · Ataxia espástica autossómica recessiva tipo 3 · SPAX3 |
| pl | Autosomalna recesywna ataksja spastyczna z leukoencefalopatią | ARSAL · Autosomalna recesywna ataksja spastyczna typu 3 · SPAX3 |
| cs | Autozomálně recesivní spastická ataxie s leukoencefalopatií | ARSAL · SPAX3 · Autozomálně recesivní spastická ataxie, typ 3 |
| uk | Аутосомно-рецесивна спастична атаксія з лейкоенцефалопатією | ARSAL · Аутосомно-рецесивна спастична атаксія типу 3 · SPAX3 |
| zh | 常染色体隐性遗传痉挛性共济失调3型 | 常染色体隐性遗传痉挛性共济失调3型 |
| tr | Lökoensefalopati ile seyreden otozomal resesif spastik ataksi | ARSAL · SPAX3 · Otozomal çekinik spastik ataksi tip 3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611390 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0012664 | E | validated | |
| MeSH | C566956 | E | validated | |
| UMLS | C1969645 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25133 | ENSG00000247626 | 609728 | 2q33.1 | methionyl-tRNA synthetase 2, mitochondrial | 22448145[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 54 cases | Worldwide | Case(s) | Validated | 22448145[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22448145[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2018-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001347 | Hyperreflexia | |
| HP:0002497 | Spastic ataxia | |
| Frequent (79-30%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001310 | Dysmetria | |
| HP:0001332 | Dystonia | |
| HP:0002066 | Gait ataxia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002650 | Scoliosis | |
| HP:0002464 | Spastic dysarthria | |
| HP:0001257 | Spasticity | |
| HP:0000012 | Urinary urgency | |
| Occasional (29-5%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 16672289[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314603
- This record as JSON: /data/d/314603.json