ORPHA:251282
Autosomal dominant spastic ataxia type 1
Synonyms: SPAX1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant spastic ataxia type 1 | SPAX1 |
| fr | Ataxie spastique autosomique dominante type 1 | = en |
| de | Spastische Ataxie, autosomal-dominante, Typ 1 | ADSA |
| es | Ataxia espástica autosómica dominante tipo 1 | |
| it | Atassia spastica autosomica dominante tipo 1 | |
| nl | Autosomaal dominante spastische ataxie 1 | |
| pt | Ataxia espástica autossómica dominante tipo 1 | ADSA |
| pl | Autosomalna dominująca ataksja spastyczna 1 | = en |
| cs | Autozomálně dominantní spastická ataxie, typ 1 | = en |
| uk | Аутосомно-домінантна спастична атаксія, тип 1 | = en |
| zh | 1型痉挛性共济失调 | = en |
| tr | Otozomal dominant spastik ataksi tip 1 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108600 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0007164 | E | validated | |
| MeSH | C566993 | E | validated | |
| UMLS | C1970107 | 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 (1):
- ORPHA:316235Autosomal dominant spastic ataxia
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 |
|---|---|---|---|---|---|---|---|---|
| VAMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12642 | ENSG00000139190 | 185880 | 12p13.31 | vesicle associated membrane protein 1 | 22958904[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22958904[PMID] |
| Cases/families | 53 cases | Worldwide | Case(s) | Validated | 22958904[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
26 annotations · validated 2018-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000605 | Supranuclear gaze palsy | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0006961 | Jerky head movements | |
| HP:0008969 | Leg muscle stiffness | |
| HP:0002070 | Limb ataxia | |
| HP:0002354 | Memory impairment | |
| HP:0000514 | Slow saccadic eye movements | |
| HP:0002497 | Spastic ataxia | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002064 | Spastic gait | |
| HP:0001258 | Spastic paraplegia | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001332 | Dystonia | |
| HP:0010831 | Impaired proprioception | |
| HP:0002166 | Impaired vibration sensation in the lower limbs | |
| HP:0001761 | Pes cavus | |
| HP:0000508 | Ptosis | |
| HP:0001337 | Tremor | |
| Excluded (0%) | ||
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001250 | Seizure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22958904[PMID]_15523628[PMID]_11774073[PMID]_14083222[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251282
- This record as JSON: /data/d/251282.json