ORPHA:217012
Spinocerebellar ataxia type 31
Synonyms: SCA31
- 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 late-onset of ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 31 | SCA31 |
| fr | Ataxie spinocérébelleuse type 31 | = en |
| de | Ataxie, spinozerebelläre, Typ 31 | = en |
| es | Ataxia espinocerebelosa tipo 31 | = en |
| it | Atassia spinocerebellare tipo 31 | = en |
| nl | Spinocerebellaire ataxie type 31 | = en |
| pt | Ataxia espinocerebelosa tipo 31 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 31 | = en |
| cs | Spinocerebelární ataxie, typ 31 | = en |
| uk | Спіноцеребеллярна атаксія, тип 31 | = en |
| zh | 脊髓小脑共济失调31型 | = en |
| tr | Spinoserebellar ataksi tip 31 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117210 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0007296 | E | validated | |
| MeSH | C566146 | E | validated | |
| UMLS | C1861736 | E | validated | |
| GARD | 9975 | 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 |
|---|---|---|---|---|---|---|---|---|
| BEAN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24160 | ENSG00000166546 | 612051 | 16q21 | brain expressed associated with NEDD4 1 | 17611710[PMID]_19878914[PMID]_22992774[PMID]_20301317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | 22353852[PMID]_24344778[PMID] | |
| Point prevalence | Unknown | — | 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
11 annotations · validated 2018-04-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| Frequent (79-30%) | ||
| HP:0001265 | Hyporeflexia | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001347 | Hyperreflexia | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0001257 | Spasticity | |
| HP:0001337 | Tremor | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 16780885[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217012
- This record as JSON: /data/d/217012.json