PUM1-related cerebellar ataxia
Synonyms: Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PUM1-related cerebellar ataxia | Adult-onset SCA47 · Adult-onset spinocerebellar ataxia type 47 |
| fr | Ataxie cérebelleuse associée à PUM1 | Ataxie spinocérébelleuse type 47, forme adulte |
| de | Zerebelläre Ataxie, PUM1-assoziierte | Ataxie, spinozerebelläre, Typ 47 · SCA47 mit Beginn im Erwachsenenalter |
| es | Ataxia cerebelosa asociada a PUM1 | Ataxia espinocerebelosa de inicio en el adulto tipo 47 · SCA47 de inicio en el adulto |
| it | Atassia cerebellare correlata a PUM1 | Atassia spinocerebellare tipo 47 ad esordio nelletà adulta · SCA47 ad esordio nelletà adulta |
| nl | PUM1-gerelateerde cerebellaire ataxie | SCA47 beginnend op volwassen leeftijd · Spinocerebellaire ataxie type 47 beginnend op volwassen leeftijd |
| pt | Ataxia cerebelosa PUM1-relacionada | Ataxia espinhocerebelosa tipo 47 com início na idade adulta · SCA47 com início na idade adulta |
| pl | Ataksja móżdżkowa związana z PUM1 | = en |
| cs | Cerebelární ataxie asociovaná s PUM1 | = en |
| uk | Мозочкова атаксія, повязана з PUM1 | SCA47, що починається у дорослих · Спіноцеребеллярна атаксія, що починається в дорослому віці, тип 47 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617931 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0033482 | E | validated | |
| UMLS | C5816800 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:99Autosomal dominant cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PUM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14957 | ENSG00000134644 | 607204 | 1p35.2 | pumilio RNA binding family member 1 | 31422002[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | United States | Case(s) | Validated | 29474920[PMID] | |
| Cases/families | 2 cases | South East Asia | Case(s) | Validated | 31422002[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29474920[PMID]_31422002 [PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642747
- This record as JSON: /data/d/642747.json