ORPHA:98767
Spinocerebellar ataxia type 11
Synonyms: SCA11
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 11 | SCA11 |
| fr | Ataxie spinocérébelleuse type 11 | = en |
| de | Ataxie, spinozerebelläre, Typ 11 | = en |
| es | Ataxia espinocerebelosa tipo 11 | = en |
| it | Atassia spinocerebellare, tipo 11 | = en |
| nl | Spinocerebellaire ataxie type 11 | = en |
| pt | Ataxia espinocerebelosa tipo 11 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 11 | = en |
| cs | Spinocerebelární ataxie, typ 11 | = en |
| uk | Спіноцеребеллярна атаксія, тип 11 | = en |
| zh | 脊髓小脑共济失调11型 | = en |
| tr | Spinoserebellar ataksi tip 11 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604432 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011464 | E | validated | |
| MeSH | C565772 | E | validated | |
| UMLS | C1858351 | E | validated | |
| GARD | 10475 | 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:94148Autosomal dominant cerebellar ataxia type III
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 |
|---|---|---|---|---|---|---|---|---|
| TTBK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19141 | ENSG00000128881 | 611695 | 15q15.2 | tau tubulin kinase 2 | 20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 51 cases | Worldwide | Case(s) | Validated | 21827911[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21827911[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
11 annotations · validated 2017-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0002141 | Gait imbalance | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0008003 | Jerky ocular pursuit movements | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0010544 | Vertical nystagmus | |
| Very rare (<4-1%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001332 | Dystonia | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301723[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98767
- This record as JSON: /data/d/98767.json