ORPHA:458798
Spinocerebellar ataxia type 41
Synonyms: SCA41
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 41 | SCA41 |
| fr | Ataxie spinocérébelleuse type 41 | = en |
| de | Ataxie, spinozerebelläre, Typ 41 | = en |
| es | Ataxia espinocerebelosa tipo 41 | |
| it | Atassia spinocerebellare tipo 41 | |
| nl | Spinocerebellaire ataxie type 41 | = en |
| pt | Ataxia espinocerebelosa tipo 41 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typ 41 | SCA typ 41 |
| cs | Spinocerebelární ataxie, typ 41 | = en |
| uk | Спіноцеребеллярна атаксія, тип 41 | = en |
| zh | 脊髓小脑共济失调41型 | = en |
| tr | Spinoserebellar ataksi tip 41 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616410 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| MONDO | 0014626 | E | validated | |
| UMLS | C4225158 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12335 | ENSG00000138741 | 602345 | 4q27 | transient receptor potential cation channel subfamily C member 3 | 25477146[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 25477146[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25477146[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.
6
HPO phenotypes
3 annotations · validated 2018-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0002066 | Gait ataxia | |
| HP:0002172 | Postural instability | |
Annotation source: 25477146[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/458798
- This record as JSON: /data/d/458798.json