ORPHA:675216
Spinocerebellar ataxia type 27B
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 27B | |
| fr | Ataxie spinocérébelleuse type 27B | |
| de | Ataxie, spinozerebelläre, Typ 27B | |
| es | Ataxia espinocerebelosa tipo 27B | |
| it | Atassia spinocerebellare tipo 27B | |
| nl | Spinocerebellaire ataxie type 27B | |
| pt | Ataxia espinocerebelosa tipo 27B | |
| pl | Ataksja rdzeniowo-móżdżkowa typu 27B | |
| cs | Spinocerebelární ataxie, typ 27B | |
| uk | Спіноцеребеллярна атаксія, тип 27B |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620174 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | attributed | validated |
| MONDO | 859340 | E | validated | |
| UMLS | C5925077 | 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:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF14 | Disease-causing germline mutation(s) in | Assessed | HGNC:3671 | ENSG00000102466 | 601515 | 13q33.1 | fibroblast growth factor 14 | 36516086[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/675216
- This record as JSON: /data/d/675216.json