ORPHA:98766
Spinocerebellar ataxia type 5
Synonyms: SCA5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
An autosomal dominant cerebellar ataxia type III that is characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 5 | SCA5 |
| fr | Ataxie spinocérébelleuse type 5 | = en |
| de | Ataxie, spinozerebelläre, Typ 5 | = en |
| es | Ataxia espinocerebelosa tipo 5 | = en |
| it | Atassia spinocerebellare tipo 5 | = en |
| nl | Spinocerebellaire ataxie type 5 | = en |
| pt | Ataxia espinocerebelosa tipo 5 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 5 | = en |
| cs | Spinocerebelární ataxie, typ 5 | = en |
| uk | Спіноцеребеллярна атаксія, тип 5 | = en |
| zh | 脊髓小脑共济失调5型 | = en |
| tr | Spinoserebellar ataksi tip 5 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600224 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0010848 | E | validated | |
| UMLS | C0752123 | E | validated | |
| GARD | 4953 | 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 |
|---|---|---|---|---|---|---|---|---|
| SPTBN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11276 | ENSG00000173898 | 604985 | 11q13.2 | spectrin beta, non-erythrocytic 2 | 20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 25142508[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT]_25142508[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
4 annotations · validated 2017-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002311 | Incoordination | |
| HP:0001350 | Slurred speech | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 7874171[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98766
- This record as JSON: /data/d/98766.json