ORPHA:98762
Spinocerebellar ataxia type 12
Synonyms: SCA12
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 12 | SCA12 |
| fr | Ataxie spinocérébelleuse type 12 | = en |
| de | Ataxie, spinozerebelläre, Typ 12 | = en |
| es | Ataxia espinocerebelosa tipo 12 | = en |
| it | Atassia spinocerebellare, tipo 12 | = en |
| nl | Spinocerebellaire ataxie type 12 | = en |
| pt | Ataxia espinocerebelosa tipo 12 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 12 | = en |
| cs | Spinocerebelární ataxie, typ 12 | = en |
| uk | Спіноцеребеллярна атаксія, тип 12 | = en |
| zh | 脊髓小脑共济失调12型 | = en |
| tr | Spinoserebellar ataksi tip 12 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604326 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011439 | E | validated | |
| MeSH | C565790 | E | validated | |
| UMLS | C1858501 | E | validated | |
| GARD | 10476 | 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:94145Autosomal dominant cerebellar ataxia type I
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 |
|---|---|---|---|---|---|---|---|---|
| PPP2R2B | Disease-causing germline mutation(s) in | Assessed | HGNC:9305 | ENSG00000156475 | 604325 | 5q32 | protein phosphatase 2 regulatory subunit Bbeta |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 families | Worldwide | Family(ies) | Validated | 20301381[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
21 annotations · validated 2018-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002345 | Action tremor | |
| HP:0001251 | Ataxia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001347 | Hyperreflexia | |
| HP:0002406 | Limb dysmetria | |
| HP:0001300 | Parkinsonism | |
| HP:0030188 | Tremor by anatomical site | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000708 | Atypical behavior | |
| HP:0002067 | Bradykinesia | |
| HP:0100543 | Cognitive impairment | |
| HP:0000726 | Dementia | |
| HP:0001288 | Gait disturbance | |
| HP:0002375 | Hypokinesia | |
| HP:0002080 | Intention tremor | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002174 | Postural tremor | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002317 | Unsteady gait | |
Annotation source: 20301381[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98762
- This record as JSON: /data/d/98762.json