ORPHA:98764
Spinocerebellar ataxia type 27A
Synonyms: SCA27A
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 27A | SCA27A |
| fr | Ataxie spinocérébelleuse type 27A | = en |
| de | Ataxie, spinozerebelläre, Typ 27A | = en |
| es | Ataxia espinocerebelosa tipo 27A | = en |
| it | Atassia spinocerebellare tipo 27A | SCA27A · SCA27 |
| nl | Spinocerebellaire ataxie type 27A | = en |
| pt | Ataxia espinocerebelosa tipo 27A | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 27 | SCA27 |
| cs | Spinocerebelární ataxie, typ 27 | SCA27 |
| uk | Спіноцеребеллярна атаксія, тип 27 | SCA27 |
| zh | 脊髓小脑共济失调27型 | SCA27 |
| tr | Spinoserebellar ataksi tip 27 | SCA27 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193003 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012247 | E | validated | |
| MeSH | C537204 | E | validated | |
| UMLS | C1836383 | E | validated | |
| GARD | 9963 | 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 |
|---|---|---|---|---|---|---|---|---|
| FGF14 | Disease-causing germline mutation(s) in | Assessed | HGNC:3671 | ENSG00000102466 | 601515 | 13q33.1 | fibroblast growth factor 14 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | [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
20 annotations · validated 2018-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0001337 | Tremor | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0001288 | Gait disturbance | |
| HP:0002070 | Limb ataxia | |
| HP:0002354 | Memory impairment | |
| HP:0001761 | Pes cavus | |
| HP:0003390 | Sensory axonal neuropathy | |
| HP:0002078 | Truncal ataxia | |
| Occasional (29-5%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0000716 | Depression | |
| HP:0002378 | Hand tremor | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000642 | Red-green dyschromatopsia | |
| HP:0000486 | Strabismus | |
| Very rare (<4-1%) | ||
| HP:0002304 | Akinesia | |
| HP:0010526 | Dysgraphia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 15470364[PMID]_12489043[PMID]_22579694[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98764
- This record as JSON: /data/d/98764.json