ORPHA:98759
Spinocerebellar ataxia type 17
Synonyms: HDL4 · Huntington disease-like 4 · SCA17
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 17 | HDL4 · Huntington disease-like 4 · SCA17 |
| fr | Ataxie spinocérébelleuse type 17 | HDL4 · Maladie de Huntington-like 4 · SCA17 |
| de | Ataxie, spinozerebelläre, Typ 17 | Chorea Huntington-ähnliche Krankheit 4 · HDL4 · SCA17 |
| es | Ataxia espinocerebelosa tipo 17 | Enfermedad similar a Huntington, tipo 4 · HDL4 · SCA17 |
| it | Atassia spinocerebellare, tipo 17 | HDL4 · Malattia Huntington-simile 4 · SCA17 |
| nl | Spinocerebellaire ataxie type 17 | HDL4 · SCA17 · Ziekte van Huntington-achtig 4 |
| pt | Ataxia espinocerebelosa tipo 17 | Doença de Huntington-like 4 · HDL4 · SCA17 |
| pl | Ataksja rdzeniowo-móżdżkowa typu 17 | Choroba podobna do choroby Huntingtona 4 · HDL4 · SCA17 |
| cs | Spinocerebelární ataxie, typ 17 | HDL4 · Huntingtonská fenokopie 4 · SCA17 |
| uk | Спіноцеребеллярна атаксія, тип 17 | HDL4 · Гентингтон-подібна хвороба 4 · SCA17 |
| zh | 脊髓小脑共济失调17型 | 亨廷顿病样疾病4型 |
| tr | Spinoserebellar ataksi tip 17 | HDL4 · SCA17 · Huntington hastalığı-benzeri 4 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607136 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0011781 | E | validated | |
| MeSH | C564616 | E | validated | |
| UMLS | C1846707 | E | validated | |
| GARD | 10469 | 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:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBP | Disease-causing germline mutation(s) in | Assessed | HGNC:11588 | ENSG00000112592 | 600075 | 6q27 | TATA-box binding protein |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.047 / 100 000 | Japan | Value and class | Validated | 12116198[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | United Kingdom | Value and class | Validated | 16223509[PMID]_[EXPERT] |
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
19 annotations · validated 2017-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001288 | Gait disturbance | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0000708 | Atypical behavior | |
| HP:0000643 | Blepharospasm | |
| HP:0012082 | Cerebellar Purkinje layer atrophy | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002072 | Chorea | |
| HP:0001332 | Dystonia | |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia | |
| HP:0004305 | Involuntary movements | |
| HP:0001268 | Mental deterioration | |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0001300 | Parkinsonism | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| HP:0000473 | Torticollis | |
| HP:0002356 | Writer's cramp | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301611[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98759
- This record as JSON: /data/d/98759.json