Spinocerebellar ataxia type 46
Synonyms: SCA46
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 46 | SCA46 |
| fr | Ataxie spinocérébelleuse type 46 | = en |
| de | Ataxie, spinozerebelläre, Typ 46 | = en |
| es | Ataxia espinocerebelosa tipo 46 | = en |
| it | Atassia spinocerebellare tipo 46 | = en |
| nl | Spinocerebellaire ataxie type 46 | = en |
| pt | Ataxia espinocerebelosa tipo 46 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typ 46 | SCA typ 46 |
| cs | Spinocerebelární ataxie typu 46 | = en |
| uk | Спіноцеребеллярна атаксія, тип 46 | = en |
| zh | Spinocerebellar ataxia type 46 | = en |
| tr | Spinocerebellar ataxia type 46 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617770 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 0033481 | E | validated | |
| UMLS | C4540404 | 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 (2):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:207028Cerebellar ataxia with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:17158 | ENSG00000105223 | 615698 | 19q13.2 | phospholipase D family member 3 | 29847346[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 8595484[PMID]_29847346[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8595484[PMID]_29847346[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589522
- This record as JSON: /data/d/589522.json