ORPHA:98760
Spinocerebellar ataxia type 8
Synonyms: SCA8
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 8 | SCA8 |
| fr | Ataxie spinocérébelleuse type 8 | = en |
| de | Ataxie, spinozerebelläre, Typ 8 | = en |
| es | Ataxia espinocerebelosa tipo 8 | = en |
| it | Atassia spinocerebellare, tipo 8 | = en |
| nl | Spinocerebellaire ataxie type 8 | = en |
| pt | Ataxia espinocerebelosa tipo 8 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 8 | = en |
| cs | Spinocerebelární ataxie, typ 8 | = en |
| uk | Спіноцеребеллярна атаксія, тип 8 | = en |
| zh | 脊髓小脑共济失调8型 | = en |
| tr | Spinoserebellar ataksi tip 8 | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608768 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0012116 | E | validated | |
| MeSH | C537307 | E | validated | |
| UMLS | C1837454 | E | validated | |
| GARD | 4956 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATXN8 | Disease-causing germline mutation(s) in | Assessed | HGNC:32925 | ENSG00000288330 | 613289 | 13q21.33 | ataxin 8 | |
| ATXN8OS | Disease-causing germline mutation(s) in | Assessed | HGNC:10561 | ENSG00000230223 | 603680 | 13q21.33 | ATXN8 opposite strand lncRNA |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
23 annotations · validated 2018-04-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0002067 | Bradykinesia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0001332 | Dystonia | |
| HP:0002066 | Gait ataxia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000802 | Impotence | |
| HP:0002070 | Limb ataxia | |
| HP:0000639 | Nystagmus | |
| HP:0002172 | Postural instability | |
| HP:0002063 | Rigidity | |
| HP:0002464 | Spastic dysarthria | |
| HP:0001257 | Spasticity | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0002835 | Aspiration | |
| HP:0000716 | Depression | |
| HP:0002015 | Dysphagia | |
| HP:0000273 | Facial grimacing | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0000020 | Urinary incontinence | |
Annotation source: 10192387{PMID]_10690991[PMID]_15732096[PMID]_17060579[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98760
- This record as JSON: /data/d/98760.json